research papers on karyotype

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Classical cytogenetics: karyotyping techniques

Affiliation.

• 1 Department of Biology, Beckman Research Institute, City of Hope National Medical Center, Duarte, CA, USA. [email protected]
• PMID: 21822875
• DOI: 10.1007/978-1-61779-201-4_13

Classical cytogenetics by karyotyping has been utilized in clinical research laboratories for more than 50 years and remains the key method used in the stem cell laboratory to assess the genetic stability of stem cell cultures. It is currently the most readily accessible method for detecting chromosomal abnormalities in pluripotent stem cell cultures. This chapter will describe (1) how to prepare a culture to maximize the number of metaphase cells, (2) how to prepare slides containing chromosome spreads (3) methods used to stain chromosomes, and (4) how to interpret the cytogenetic report.

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Karyotype Evolution: Concepts and Applications

• First Online: 10 February 2017

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• Kátia Ferreira Marques de Resende 3  

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4 Citations

The karyotype is the characterization of number, size, and morphology of the set of chromosomes of a species, as seen under the microscope. Studying the karyotypic evolution of a group of organisms is necessary to obtain data such as number of chromosomes, the position of the centromeres, and the number and positions of secondary constrictions and banding patterns. The karyotype study is important to help identify karyotypic polymorphism and interspecific and intraspecific cytogenetic variation and evolution. It also helps us in understanding the relationship between chromosome number, amount of DNA, and complexity of the organisms. Thus, the main application of studies of evolution karyotype is in the (cyto)taxonomy/systematics and phylogeny which will be discussed in the present chapter with examples in plants of the genus Carex (Cyperaceae), which exhibits karyological peculiarities with holocentric chromosomes and continual variation in chromosome number; of the genus Allium , which has polymorphic species with karyotype analysis and size genome described; of the genus Crepis , which has been a model of cytological studies with karyotype evolution; of the Crocus series (Iridaceae), which is characterized by high intra- and interspecific variability of karyotypes; of the genera Cassia , Chamaecrista , and Senna ; and, finally, in epiphytic cacti ( Lepismium ) and species of the Rhipsalis and Delphinium , in species of scorpions ( Androctonus ), and in the genus Oligoryzomys (Rodentia).

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Chromosome change and karyotype differentiation–implications in speciation and plant systematics

A novel indicator of karyotype evolution in the tribe leucocoryneae (allioideae, amaryllidaceae).

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Abbreviations.

A3 chromomycin

4′,6-diamidino-2- phenylindole

Nucleolus organizer regions

Fluorescent in situ hybridization

Genomic in situ hybridization

Metacentric

Submetacentric

Acrocentric

Telocentric

Ratio of arms

Centromeric index

Total length of chromosome i

Total length lot haploid

Relative length of each chromosome

Fundamental number

Intrachromosomal asymmetry index

Interchromosomal asymmetry index

Oligoryzomys moojeni

Abraham A, Ninan CA (1954) The chromosomes of Ophioglossum reticulatum L. Curr Sci 23:213–214

Google Scholar  

Árnason U (1974) Comparative chromosome studies in Cetacea . Hereditas 77(1):1–36

Article   PubMed   Google Scholar  

Babcock EB (ed) (1947a) The genus Crepis I. In: The taxonomy, phylogeny, distribution and evolution of Crepis . University of California Press, Berkeley

Babcock EB (ed) (1947b) The genus I II. In: Systematic treatment. University of California Press, Berkeley

Balmus G, Trifonov VA, Biltueva LS, O’Brien PC, Alkalaeva ES, Fu B, Ferguson-Smith MA (2007) Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative Cetartiodactyla ancestral karyotype. Chromosom Res 15(4):499–514

Article   CAS   Google Scholar  

Bantock CR, Cockayne WC (1975) Chromosomal polymorphism in Nucella lapillus L. Heredity 34:231–235

Bennetzen JL, Kellogg EA (1997) Do plants have a one-way ticket to genomic obesity? Plant Cell 9:1509–1514

Article   CAS   PubMed   PubMed Central   Google Scholar  

Coelho P, Sousa P, Harris DJ, van der Meijden A (2014) Deep intraspecific divergences in the medically relevant fat-tailed scorpions ( Androctonus , Scorpiones). Acta Trop 134:43–51

Article   CAS   PubMed   Google Scholar  

Coluzzi M, Sabatini A, Torre A, Deco MA, Petrarca V (2002) A polytene chromosome analysis of the Anopheles gambiae species complex. Science 298(5597):1415–1418

Correia-da-Silva M, Vasconcelos S, da Costa Soares MDL, Mayo SJ, Benko-Iseppon AM (2014) Chromosomal diversity in Philodendron (Araceae): taxonomic significance and a critical review. Plant Syst Evol 300(5):1111–1122

Article   Google Scholar  

Da Cunha AB, Dobzhansky T (1954) A further study of chromosomal polymorphism in Drosophila willistoni in its relation to the environment. Evolution 8:119–134

Di-Nizo CB, Ventura K, Ferguson-Smith MA, O’Brien PC, Yonenaga-Yassuda Y, Silva MJ (2015) Comparative chromosome painting in six species of Oligoryzomys (Rodentia, Sigmodontinae) and the karyotype evolution of the genus. PLoS One 10(2):e0117579

Article   PubMed   PubMed Central   Google Scholar  

Dutta M, Negi KS, Bandyopadhyay M (2015) Novel cytogenetic resources of wild Allium (Amaryllidaceae) from India. Nucleus:1–7

Eichler EE, Sankoff D (2003) Structural dynamics of eukaryotic chromosome evolution. Science 301:793–797

Enke N, Fuchs J, Gemeinholzer B (2011) Shrinking genomes? Evidence from genome size variation in Crepis (Compositae). Plant Biol 13(1):185–193. doi: 10.1111/j.1438-8677.2010.00341.x

Enke N, Kunze R, Pustahija F et al (2015) Genome size shifts: karyotype evolution in Crepis section Neglectoides (Asteraceae). Plant Biol 17:775–786. doi: 10.1111/plb.12318

Ferreira K, Torres GA, de Sousa SM, dos Santos AC (2010) Karyotype, meiotic behavior and pollen features of Senna occidentalis . Biologia 65(5):789–795

Flavell RB (1980) The molecular characterization and organization of plant chromosomal DNA sequences. Annu Rev Plant Biol 31:569–596

Fontana F, Colombo G (1974) The chromosomes of Italian sturgeons. Experientia 30(7):739–742

Futuyma DJ (ed) (2009) Evolution. Sinauer Associates, Sunderland

Goday C, Pimpinelli S (1986) Cytological analysis of chromosomes in the two species Parascaris univalens and P. equorum . Chromosoma 94(1):1–10

Gomes SSL, Saldanha CW, Neves CS, Trevizani M, Raposo NRB, Notini MM, Viccini LF (2014) Karyotype, genome size, and in vitro chromosome doubling of Pfaffia glomerata (Spreng.) Pedersen. Plant Cell Tissue Organ Cult (PCTOC) 118(1):45–56

Griffiths AJF, Wessler SR, Lewontin RC, Gelbart W, Suzuki DT, Miller JH (eds) (2006) Introdução à Genética. Guanabara

Guerra MS (1986) Reviewing the chromosome nomenclature of Levan et al. Revista Brasileira de Genética 9(4):741–743

Guerra M (ed) (1988) Introdução à Citogenética Geral. Guanabara Koogan, Rio de Janeiro

Guerra M (2000) Chromosome number variation and evolution in monocots. In: Monocots: systematics and evolution. CSIRO, Melbourne, pp 127–136

Guerra M (2008) Chromosome numbers in plant cytotaxonomy: concepts and implications. Cytogenet Genome Res 120:339–350

Guetat A, Rosato M, Rossello JA et al (2015) Karyotype analysis in Allium roseum L. (Alliaceae) using fluorescent in situ hybridization of rDNA sites and conventional stainings. Turk J Bot 39(5):796–807. doi: 10.3906/bot-1402-48

Gurushidze M, Fuchs J, Blattner FR (2012) The evolution of genome size variation in drumstick onions ( Allium subgenus Melanocrommyum ). Syst Bot 37(1):96–104. doi: 10.1600/036364412X616675

Harpke D, Carta A, Tomović G et al (2015) Phylogeny, karyotype evolution and taxonomy of Crocus series Verni (Iridaceae). Plant Syst Evol 301(1):309–325. doi: 10.1007/s00606-014-1074-0

Hizume M, Shibata F, Matsusaki Y, Garajova Z (2002) Chromosome identification and comparative karyotypic analyses of four Pinus species. Theor Appl Genet 105(4):491–497

Hollingshead L (1930) Cytological investigations of hybrids and hybrid derivative Crepis capillaris and Crepis tectorum . Univ Calif Publ Agric Sci 6:55–94

Hoxmark RC (1970) The chromosome dimorphism of Nucella lapillus in relation to wave action. Nytt Mag Zool 18:229–238

Huang L, Wang J, Nie W, Su W, Yang F (2006) Tandem chromosome fusions in karyotypic evolution of Muntiacus : evidence from M. feae and M. gongshanensis . Chromosom Res 14(6):637–647

Jabbour F, Renner SS (2012) A phylogeny of Delphinieae (Ranunculaceae) shows that Aconitum is nested within Delphinium and that late miocene transitions to long life cycles in the Himalayas and Southwest China coincide with bursts in diversification. Mol Phylogenet Evol 62(3):928–942

King RC, Riley SF, Cassidy JD, White PE, Paik YK (1981) Giant polytene chromosomes from the ovaries of a Drosophila mutant. Science 212(4493):441–443

Klug WS, Cummings MR, Spencer CA, Palladino MA (eds) (2014) Concepts of genetics. Benjamin-Cummings Publishing Company

Kolar FR, Gosavi KVC, Chandore AN et al (2012) Comparative karyotype analysis of Delphinium malabaricum var. malabaricum (Huth) Munz. and Delphinium malabaricum var. ghaticum Billore. Cytologia 77(1):113–119

Lawlor TE (1974) Chromosomal evolution in Peromyscus . Evolution 28(4):689–692

Leitch IJ, Bennett MD (1997) Polyploidy in angiosperms. Trends Plant Sci 2(12):470–476

Leitch IJ, Chase MW, Bennett MD (1998) Phylogenetic analysis of DNA C-values provides evidence for a small ancestral genome size in flowering plants. Ann Bot 82:85–94

Levan A, Karl F, Avery AS (1964) Nomenclature for centromeric position on chromosomes. Hereditas 52(2):201–220

Levin DA (ed) (2002) The role of chromosomal change in plant evolution. Oxford University Press, Oxford

Lewis GP (2005) Cassieae. In: Lewis G, Schrire B, Mackinder B, Lock M (eds) Legumes of the world. Royal Botanic Gardens Kew, London, pp 111–125

Lipnerová I, Bureš P, Horová L et al (2013) Evolution of genome size in Carex (Cyperaceae) in relation to chromosome number and genomic base composition. Ann Bot 111(1):79–94. doi: 10.1093/aob/mcs239

Makapedua DM, Barucca M, Forconi M, Antonucci N, Bizzaro D, Amici A, Canapa A (2011) Genome size, GC percentage and 5mC level in the Indonesian coelacanth Latimeria menadoensis . Mar Genomics 4(3):167–172

Mavrodiev EV, Chester M, Suárez‐Santiago VN, Visger CJ, Rodriguez R, Susanna A, Soltis DE (2015) Multiple origins and chromosomal novelty in the allotetraploid Tragopogon castellanus (Asteraceae). New Phytol 206:1172–1183

Moreno NC, Amarilla LD, Las Peñas ML, Bernardello G (2015) Molecular cytogenetic insights into the evolution of the epiphytic genus Lepismium (Cactaceae) and related genera. Bot J Linn Soc 177(2):263–277

Pierre PM, Sousa SM, Davide LC, Machado MA, Viccini LF (2011) Karyotype analysis, DNA content and molecular screening in Lippia alba (Verbenaceae). An Acad Bras Cienc 83(3):993–1006

Rao SR, Pandey R, Chandel KPS (1992) Genetic stability studies in regenerated plants of Allium tuberosum Rottl. ex Spreng. A cytological approach. Cytologia 57(3):339–347

Resende K, Prado C, Davide L, Torres G (2014) Polyploidy and apomixis in accessions of Senna rugosa (G. Don) HS Irwin & Barneby. Turk J Biol 38(4):510–515

Rubes J, Musilova P, Kopecna O, Kubickova S, Cernohorska H, Kulemsina AI (2011) Comparative molecular cytogenetics in Cetartiodactyla . Cytogen Genome Res 137(2–4):194–207

Sacristan MD (1971) Karyotypic changes in callus cultures from haploid and diploid plants of Crepis capillaris (L.) Wallr. Chromosoma 33(3):273–283

Sadílek D, Nguyen P, Koç H, Kovařík F, Yağmur EA, Šťáhlavský F (2015) Molecular cytogenetics of Androctonus scorpions : an oasis of calm in the turbulent karyotype evolution of the diverse family Buthidae. Biol J Linn Soc 115(1):69–76

Schubert I (2007) Chromosome evolution. Curr Opin Plant Biol 10:109–115

Sharma A, Sen S (eds) (2002) Chromosome botany. CRC Press, Boca Raton

Sharma G, Sharma N (2014) Cytology as an important tool for solving evolutionary problems in angiosperms. Proc Natl Acad Sci India Sect B Biol Sci 84(1):1–7. doi: 10.1007/s40011-013-0203-9

Sherman M (1946) Karyotype evolution: a cytogenetic study of seven species and six intraspecific hybrids of Crepis . Univ Calif Publ Bot 18:369–408

Stace CA (1980) Plant taxonomy and biosystematics. Edward Arnold, London

Stebbins GL (1958) Longevity, habitat, e release of genetic variability in the higher plants. In: Cold Spring Harbor symposia quantitative biology, vol 23, pp 365–378

Stebbins GL (1971) Chromosomal evolution in higher plants. Edward Arnold, London

Sturtevant AH (1925) The effects of unequal crossing over at the bar locus in Drosophila. Genetics 10(2):117–147

CAS   PubMed   PubMed Central   Google Scholar  

Tanomtong A, Chaveerach A, Phanjun G, Kaensa W, Khunsook AS (2005) New records of chromosomal features in Indian muntjacs ( Muntiacus muntjak ) and Fea’s muntjacs ( M. feae ) of Thailand. Cytologia 70(1):71–77

Taylor KM, Hungerford DA, Snyder RL, Ulmer JFA (1968) Uniformity of karyotypes in the Camelidae. Cytogenet Genome Res 7(1):8–15

Thomas CA (1971) The genetic organization of chromosomes. Annu Rev Genet 5:237–256

Tobgy HA (1943) A cytological study of Crepis fuliginosa , C. neglecta and their F1 hybrid, and its bearing on the mechanism of phylogenetic reduction in chromosome number. J Genet 45:67–111

Trifonov VA, Stanyon R, Nesterenko AI, Fu B, Perelman PL, O’Brien PC, Yang F (2008) Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla . Chromosom Res 16(1):89–107

Wang AH, Sun Y, Wang FG, Schneider H, Zhai JW, Liu DM, Chen HF (2015) Identification of the relationship between Chinese Adiantum reniforme var. sinense and Canary Adiantum reniforme . BMC Plant Biol 15(1):36

Zarco CR (1986) A new method for estimating karyotype asymmetry. Taxon 35(3):526–530

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Kátia Ferreira Marques de Resende

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Department of Education, Government of Jammu and Kashmir, Srinagar, India

Tariq Ahmad Bhat

Department of Botany, University of Kashmir, Srinagar, Jammu and Kashmir, India

Aijaz Ahmad Wani

Derived character that is present exclusively in a single terminal taxon of a given cladogram

Technique related to the differential staining of all chromosomes of the species, using a pool of differently labeled specific fluorescent probes

Formed by several overlapping chromatids, derived from repeated duplication of DNA strands without cell division, found in the salivary glands of Drosophila melanogaster

Technique for counting, examining, and classifying microscopic particles suspended in a liquid medium through an opto-electronic detection apparatus, for example, determining the amount of DNA/nucleus

Cytogenetic technique used to detect and localize specific DNA sequences in chromosomes using fluorescent probes

Cytogenetic technique like FISH to locate genomic probes, i.e., an entire genome, in chromosomal set of a given species

Has only one chromosome of each pair of homologous chromosome

The cells may have several nucleoli, but there is usually a fusion so they have only one or two

Partially decondensed region that relates to the mechanisms of cell division, presenting the kinetochore, where the spindle fibers attach

Observed in at least one of the chromosomes of each species which is closely related to the organizer regions of the nucleolus presenting ribosomal RNA genes for transcription that constitute most of the nucleolus

Derived character shared by more than one group

Presence of two or more loci genes on the same chromosome

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de Resende, K.F.M. (2017). Karyotype Evolution: Concepts and Applications. In: Bhat, T., Wani, A. (eds) Chromosome Structure and Aberrations. Springer, New Delhi. https://doi.org/10.1007/978-81-322-3673-3_9

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Article Contents

1 introduction, 2 implementation, 3 conclusion.

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CytoGPS: a web-enabled karyotype analysis tool for cytogenetics

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Zachary B Abrams, Lin Zhang, Lynne V Abruzzo, Nyla A Heerema, Suli Li, Tom Dillon, Ricky Rodriguez, Kevin R Coombes, Philip R O Payne, CytoGPS: a web-enabled karyotype analysis tool for cytogenetics, Bioinformatics , Volume 35, Issue 24, December 2019, Pages 5365–5366, https://doi.org/10.1093/bioinformatics/btz520

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Karyotype data are the most common form of genetic data that is regularly used clinically. They are collected as part of the standard of care in many diseases, particularly in pediatric and cancer medicine contexts. Karyotypes are represented in a unique text-based format, with a syntax defined by the International System for human Cytogenetic Nomenclature (ISCN). While human-readable, ISCN is not intrinsically machine-readable. This limitation has prevented the full use of complex karyotype data in discovery science use cases. To enhance the utility and value of karyotype data, we developed a tool named CytoGPS. CytoGPS first parses ISCN karyotypes into a machine-readable format. It then converts the ISCN karyotype into a binary Loss-Gain-Fusion (LGF) model, which represents all cytogenetic abnormalities as combinations of loss, gain, or fusion events, in a format that is analyzable using modern computational methods. Such data is then made available for comprehensive ‘downstream’ analyses that previously were not feasible.

Freely available at http://cytogps.org .

Karyotype data are the most common form of genetic data regularly employed in clinical medicine. They are stored in a text-based standard format with a syntax defined by the International System for human Cytogenetic Nomenclature or ISCN ( McGowan-Jordan et al. , 2016 ). This international standard is updated regularly and dictates how karyotypes should be written and stored. Although trained cytogeneticists are able to read ISCN, the nomenclature is formatted as a semi-context-free and semi-structured language, thus making it incompatible with comprehensive computational analysis. This limitation explains why past attempts to parse karyotype data have only been marginally successful.

To make karyotype more readily available for computational analyses, we developed a rules-based grammar parser called CytoGPS. The parser identifies the relevant cytogenetic information in an ISCN-encoded karyotype, and then uses a mapping system to translate that information into a computer readable format, which we refer to as the Loss-Gain-Fusion (LGF) model ( Abrams et al. , 2015 ). In this note, we describe a website ( http://cytogps.org ) that we built for individual researchers so that they can quickly and easily use CytoGPS. The website provides both single karyotype and batch karyotype processing. It enables researchers to automatically process thousands of karyotypes written in the short form ISCN nomenclature. Further, CytoGPS supports the development of future, structured databases based on the LGF model, which we believe will further cytogenetic research by unlocking the potential currently locked within non-computable ISCN-encoded karyotypes.

The foundation of CytoGPS is a grammar-based parser that was created using Antlr, a system designed to construct grammar sets ( Parr, 2013 ). Using this parser, CytoGPS can translate ISCN-encoded karyotypes into a parse tree that is capable of decomposing a given karyotype into subcomponents. The resulting parse tree can then be traversed to extract relevant information from different branches and leaves of the tree, thus extracting biological information from the ISCN karyotype.

When parsing a karyotype, the most important information that is encoded is the description of cytogenetic abnormalities located on specific chromosome bands. This information can be thought of as the event and its location. These event/location pairs are translated by CytoGP using a rule-based mapper that contains an enumeration of all ISCN cytogenetic abnormalities as well as a biological interpretation of those abnormalities in the context of losses, gains and fusions. This rules-based system ultimately translates the event/location information from the ISCN karyotype into a binary model that represents each such Loss-Gain-Fusion event (what we call the LGF model). In the LGF model, each cytogenetic band is represented three times—once each for loss, gain and fusion, preserving the cytogenetic meaning of the karyotype.

For ease of use, we developed a website to allow researchers and clinicians the ability to access CytoGPS in an easy and highly usable manner ( Fig. 1 ). To facilitate access to the tool, we made a few key design decisions. First, the homepage gives an overview of CytoGPS functionality. Users may then navigate to an interactive set of interface components, where more detailed descriptions about required inputs to the tools are provided. Third, we include detailed examples and example datasets in both the single karyotype analysis and batch karyotype analysis so that users can explore the system to determine whether CytoGPS can help them meet their research needs. All of these components provide clear visual feedback to the user on the options they have selected as well as how the single karyotype analysis results can be shown. Although we only provide data visualization for individual karyotype analysis, users can individually assess each affected chromosome within their input karyotype via an ideogram that presents each chromosome in horizontal view. By clicking on an individual chromosome, users can access a vertical view of that chromosome that displays more detailed information about each cytogenetic band ( Fig. 1 ). This visually demonstrates how the CytoGPS algorithm translates the ISCN data into the LGF model. For batch karyotypes, we return a file containing the results for each individual karyotype in the batch along with statistics summarizing the entire cohort of karyotypes. These statistics include the percentage of the input population that had specific cytogenetic abnormalities, so users can easily determine the defining cytogenetic events for their dataset.

CytoGPS website. This shows the karyotype analysis landing page, which describes general information about how to use the web based analysis tool. The left panel shows how results are displayed after a karyotype has been parsed. The user is shown which chromosomes have cytogenetic abnormalities and is provided with a downloadable file of the results. When a user clicks on a chromosome, they see a table in the right panel that shows each cytogenetic region on that particular chromosome and how those regions were affected

CytoGPS is a unique research tool for the computational analysis of karyotype data. By developing a free, user-friendly website, we hope to improve the dissemination and usability of the CytoGPS algorithm to aid a wider number of research groups in analyzing their cytogenetic data.

This work was supported by the National Library of Medicine (NLM) grant number T15 LM011270, the National Cancer Institute grant number R03 CA235101 and by Pelotonia Intramural Research Funds from the James Cancer Center.

Conflict of Interest : none declared.

Abrams   Z.B.  et al.  ( 2015 ) Text mining and data modeling of karyotypes to aid in drug repurposing efforts . Stud. Health Technol. Inform ., 216 , 1037 .

Google Scholar

McGowan-Jordan   J.  et al.  ( 2016 ) ISCN 2016: An International System for Human Cytogenomic Nomenclature . Karger Medical and Scientific Publishers , Basel .

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Automated analysis of karyotype images.

• Ensieh Khazaei , 
• Ala Emrany , 
• Mostafa Tavassolipour , 
• Foroozandeh Mahjoubi , 
• Ahmad Ebrahimi , and 
• Seyed Abolfazl Motahari

Electrical Engineering Department, Sharif University of Technology, Tehran, Iran

E-mail Address: [email protected]

Search for more papers by this author

Computer Engineering Department, Sharif University of Technology, Tehran, Iran

Electrical and Computer Engineering Department, Tehran University, Tehran, Iran

Corresponding author.

Karyotype is a genetic test that is used for detection of chromosomal defects. In a karyotype test, an image is captured from chromosomes during the cell division. The captured images are then analyzed by cytogeneticists in order to detect possible chromosomal defects. In this paper, we have proposed an automated pipeline for analysis of karyotype images. There are three main steps for karyotype image analysis: image enhancement, image segmentation and chromosome classification. In this paper, we have proposed a novel chromosome segmentation algorithm to decompose overlapped chromosomes. We have also proposed a CNN-based classifier which outperforms all the existing classifiers. Our classifier is trained by a dataset of about 1,62,000 human chromosome images. We also introduced a novel post-processing algorithm which improves the classification results. The success rate of our segmentation algorithm is 95%. In addition, our experimental results show that the accuracy of our classifier for human chromosomes is 92.63% and our novel post-processing algorithm increases the classification results to 94%.

• chromosome classification
• overlap resolving
• 1. Swati , Gupta G, Yadav M, Sharma M, Vig L , Siamese networks for chromosome classification , 2017 IEEE Int Conf Computer Vision Workshops (ICCVW) , Venice, Italy , pp. 72–81, 2017 , https://doi.org/10.1109/ICCVW.2017.17 . Crossref ,  Google Scholar
• 2. Sharma M, Swati, Vig L , Automatic chromosome classification using deep attention based sequence learning of chromosome bands , 2018 International Joint Conference on Neural Networks (IJCNN) , 2018 , pp. 1–8, https://doi.org/10.1109/IJCNN.2018.8489321 . Crossref ,  Google Scholar
• 3. Sharma M, Saha O, Sriraman A, Hebbalaguppe R, Vig L, Karande S , Crowdsourcing for chromosome segmentation and deep classification , 2017 IEEE Conf Computer Vision and Pattern Recognition Workshops (CVPRW) , 2017 , pp. 786–793, https://doi.org/10.1109/CVPRW.2017.109 . Crossref ,  Google Scholar
• 4. Lerner B, Guterman H, Dinstein I , A classification-driven partially occluded object segmentation (CPOOS) method with application to chromosome analysis , IEEE Trans Signal Process 46 (10) :2841–2847, 1998 . Crossref ,  Google Scholar
• 5. Minaee S, Fotouhi M, Khalaj BH , A geometric approach to fully automatic chromosome segmentation , 2014 IEEE Signal Processing in Medicine and Biology Symp (SPMB) , IEEE, pp. 1–6, 2014 . Crossref ,  Google Scholar
• 6. Madian N, Jayanthi K , Overlapped chromosome segmentation and separation of touching chromosome for automated chromosome classification , 2012 Annual Int Conf IEEE Engineering in Medicine and Biology Society , IEEE, 2012 , pp. 5392–5395. Crossref ,  Google Scholar
• 7. Madian N, Jayanthi K, Suresh S , Contour based segmentation of chromosomes in g-band metaphase images , 2015 IEEE Global Conf Signal and Information Processing (GlobalSIP) , IEEE, pp. 943–947, 2015 . Crossref ,  Google Scholar
• 8. Munot MV, Joshi M, Sharma N, Ahuja G , Automated detection of cut-points for disentangling overlapping chromosomes , 2013 IEEE Point-of-Care Healthcare Technologies (PHT) , IEEE, pp. 120–123, 2013 . Crossref ,  Google Scholar
• 9. Munot MV, Mukherjee J, Joshi M , A novel approach for efficient extrication of overlapping chromosomes in automated karyotyping , Med Biol Eng Comput 51 (12) :1325–1338, 2013 . Crossref , Medline ,  Google Scholar
• 10. Joshi MA, Munot MV, Joshi MA, Shah KR, Soni K , Automated detection of the cut-points for the separation of overlapping chromosomes , 2012 IEEE-EMBS Conf Biomedical Engineering and Sciences , IEEE, pp. 820–825, 2012 . Crossref ,  Google Scholar
• 11. Javan Roshtkhari M, Setarehdan K , A novel algorithm for straightening highly curved images of human chromosome , Pattern Recognit Lett 29 :1208–1217, 2008 , https://doi.org/10.1016/j.patrec.2008.01.029 . Crossref ,  Google Scholar
• 12. Qin Y, Song N, Zheng H, Huang X, Yang J, Zhu Y, Yang G, arXiv:1810.05943. Google Scholar
• 13. Swati S, Sharma M, Vig L, Automatic classification of low-resolution chromosomal images: Munich, Germany, September 8-14, 2018, proceedings, part VI, pp. 315–325, 2019, doi:10.1007/978-3-030-11024-6_21. Google Scholar
• 14. Chollet F , Xception: Deep learning with depthwise separable convolutions , 2017 IEEE Conf. Computer Vision and Pattern Recognition (CVPR) , Los Alamitos, CA, USA , 2017 , pp. 1800–1807, https://doi.org/10.1109/CVPR.2017.195 . Crossref ,  Google Scholar
• 15. Jahani S, Setarehdan K , An automatic algorithm for identification and straightening images of curved human chromosomes , Biomed Eng: Appl Basis Commun 24 , 2012 , 503–511. Link ,  Google Scholar
• 16. Sklansky J , Finding the convex hull of a simple polygon , Pattern Recognition Letters 1 (2) :79–83, 1982 . Crossref ,  Google Scholar
• 17. Hu X, Yi W, Jiang L, Wu S, Zhang Y, Du J, Ma T, Wang T, Wu X , Classification of metaphase chromosomes using deep convolutional neural network , J Comput Biol 26 :473–484, 2019 , https://doi.org/10.1089/cmb.2018.0212 . Crossref , Medline ,  Google Scholar
• 18. Hu J, Shen L, Sun G , Squeeze-and-excitation networks , The IEEE Conf Computer Vision and Pattern Recognition (CVPR) , Salt Lake City, UT, USA , 2018 , pp. 7132–7141. Crossref ,  Google Scholar
• 19. Lerner B, Levinstein M, Rosenberg B, Guterman H, Dinstein L, Romem Y , Feature selection and chromosome classification using a multilayer perceptron neural network , Proc 1994 IEEE Int Conf Neural Networks (ICNN’94) , Vol. 6 , Orlando, FL, USA , pp. 3540–3545, 1994 , https://doi.org/10.1109/ICNN.1994.374905 . Crossref ,  Google Scholar
• 20. Yan W , Artificial neural networks used for chromosome classification , 2011 Int Conf Electrical and Control Engineering , Yichang, China , pp. 2907–2909, 2011 , https://doi.org/10.1109/ICECENG.2011.6057254 . Crossref ,  Google Scholar
• 21. Piper J, Granum E , On fully automatic feature measurement for banded chromosome classification , Cytometry 10 (3) :242–255, 1989 . Crossref , Medline ,  Google Scholar
• 22. Roshtkhari MJ, Setarehdan SK , Linear discriminant analysis of the wavelet domain features for automatic classification of human chromosomes , 2008 9th Int Conf Signal Processing , Beijing, China , pp. 849–852, 2008 , https://doi.org/10.1109/ICOSP.2008.4697261 . Crossref ,  Google Scholar
• 23. Khmelinskii A, Ventura R, Sanches J , A novel metric for bone marrow cells chromosome pairing , IEEE Trans Biomed Eng 57 :1420–1429, 2010 . Crossref , Medline ,  Google Scholar
• 24. Nair R , Karyotyping techniques of chromosomes: A survey , International Journal of Computer Trends and Technology (IJCTT) 22 (1):2231–2803, 2015 . Google Scholar
• 25. Huang G, Liu Z, L. Van Der Maaten , Densely connected convolutional networks , 2017 IEEE Conference on Computer Vision and Pattern Recognition (CVPR) , Honolulu, HI, USA , 2017 , pp. 2261–2269. Crossref ,  Google Scholar
• 26. He K, Zhang X, Ren S, Sun J , Deep residual learning for image recognition , 2016 IEEE Conference on Computer Vision and Pattern Recognition (CVPR) , Las Vegas, NV, USA , 2016 , pp. 770–778. Crossref ,  Google Scholar

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Received 11 February 2022 Accepted 4 May 2022 Published: 7 July 2022

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Research on Chromosome Karyotype Analysis of Plumbago auriculata

• Chenyu Zhao , Fan Li , Suping Gao
• Published 30 June 2014
• Agricultural and Food Sciences
• Open Access Library Journal

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5 Citations

Karyological studies in zygophyllum fabago l. (syrian bean caper) in iran, sex-specific karyotyping of garcinia indica (thouars) choisy for differentiation of male and female trees at an early juvenile stage, micropropagation and cytological studies of aole vera linn, karyotype and ploidy of vanda dearei and vanda celebica orchid using flow cytometry analysis, plumbago auriculata (cape leadwort)., 21 references, optimization of chromosome sectioning and karyotype analysis of ficus altissima, chromosome and karyotype analysis of lonicera japonica var.chinensis, optimization of a chromosome mounting technique and karyotype analysis of thymus mongolicus, karyotype analysis of some formosan gymnosperms, study on karyotypical variation of lilium spp., technique for microscopical slides of cassava leaf for chromosome observation, chromosome preparation technique of callus of fast-growing poplar, common methods of karyotype analysis in plant, heterostyly and pollinators in plumbago auriculata (plumbaginaceae), nomenclature for centromeric position on chromosomes, related papers.

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Green Energy Research: Collaboration and Tools for a Sustainable Future

Science Article | Green Energy | 6 Sep 2024

The Urgency of Green Energy Innovation

The recent Climate Change 2023 synthesis report emphasizes the consequences of delayed emission reductions: fewer effective adaptation options for a warming planet 2 . Geopolitical factors like the Russia-Ukraine conflict further underscore the need for a green energy transition, with Europe’s energy security concerns highlighting the reliance on imported fossil fuels.

The Green Energy Research Landscape

Against this backdrop, green energy development has become a critical area of research, reflected in a more than 10-fold increase in related publications from 2010 (1,105) to 2023 (11,346), according to Digital Science’s Dimensions database. Researchers around the world are striving to improve green energy technology and society’s ability to harness renewable energy sources more efficiently.

According to data analysed by Nature Navigator , which uses artificial intelligence to generate comprehensive summaries of research topics, ‘renewable energy systems and technologies’ is the field’s most frequently mentioned subtopic (Fig.1). At a research concept level, wind power generation, grid optimization and resource management all feature as common underlying themes.

Figure 1: Topic anatomy of green energy research First-level nodes denote the research subtopic (highest prevalence themes emerging from green energy research). Second-level nodes denote the research concepts associated with these research subtopics. Note: only the research concepts mentioned in the highest count of outputs within each subtopic are presented here. Credit: Nature Research Intelligence

Of the primary green energy research subtopics presented by Nature Navigator , it is telling that ‘materials for energy storage and conversion’ is the fastest-growing, with a compound annual growth rate (CAGR) of 30.2% over the last five years. This may reflect a growing consensus among researchers and industry that a lack of options to efficiently store electricity generated by intermittent renewable sources for later use is a key bottleneck preventing the greater penetration of these sources into the grid.

Real-World Example: Accelerating Heat Pump Innovation

Changmo Sung, a prominent green energy researcher at Korea University, leveraged Nature Navigator to identify trends, key areas, and potential breakthroughs in heat pump technology. This facilitated a collaborative project with LG Electronics, accelerating their research efforts.

“It also enabled the rapid discovery of researchers and institutions outside Korea working on similar or complementary projects related to heat pumps” Sung says.

• International Energy Agency, Global Energy Review 2021 (2021).
• Intergovernmental Panel on Climate Change, Climate Change 2023 (2023).

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A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment

Xiaoxiao cui.

1 School of Medicine and Life Sciences, University of Ji’nan-Shandong Academy of Medical Science, Ji'nan, China;

2 Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, China.

Xiaoyan Zhou

Jinxiang han.

Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patients height. This article describes the incidence, complications, diagnosis, and treatment of TS.

1. Introduction

Turner syndrome (TS) occurs when the X chromosome is completely or partially missing in females. This is the only monomer syndrome that humans can survive. TS is a relatively common type of human chromosomal aberration ( 1 ) that occurs in 1:2,500 female live births. The features of TS were first described by Turner in 1938, pathogenicity X chromosome monosomy was identified in 1959 ( 2 ). Monosomy 45,X is present in about 45% of cases, the remaining TS patients show a variety of chimeras and structural abnormalitie ( 3 ). The main phenotypic characteristic of patients with TS is a short stature, which is common to all patients. Other characteristics include a short neck, a broad chest, genu valgum, and nail dysplasia. The overall mortality rate for patients with TS is higher than that for normal people because of the higher incidence of cardiovascular disease and autoimmune diseases. This article mainly describes the epidemiology, diagnosis, treatment, and complications of TS.

2. Epidemiology of TS

TS is a disease that affects females. The genetic background of the phenotype is highly variable, and analysis of the karyotype can improve understanding of the disease. The "classic" karyotype for TS is 45,X. In a recent study, the classic karyotype was only found in 45% of patients; the remaining patients had a mosaic karyotype ( i.e . 45,X/46,XX or 45,X/47,XXX), a karyotype with an X chromosome structural abnormality ( e.g . i(Xq) or i(Xp)), or a karyotype that included the Y chromosome or fragments of the Y chromosome ( 4 ). A karyotype analysis of 67 patients with TS in Suzhou, China identified the 45,X karyotype in 44.7%, a mosaic karyotype in 17.9%, a karyotype with a chromosomal structural abnormality in 31.4%, and a karyotype that included the Y chromosome or fragments of the Y chromosome in 6.0% ( 5 ). A karyotype analysis of 62 patients with TS in Linyi identified the 45,X karyotype in 40.3%, a mosaic karyotype in 8.1%, a karyotype with a structural abnormality in 43.5%, and a karyotype that included the Y chromosome or fragments of the Y chromosome in 8.1% ( 6 ). The 45,X karyotype was the main karyotype in those areas. Karyotypes of patients with TS in several Chinese cities are listed in Table 1 .

Based on a number of cytogenetic studies, the incidence of TS is estimated to range from 25 to 210 per 100,000 women ( 13 ). According to study from 1999 to 2004, the incidence of TS in 119,158 births was 1/1,180 or 0.85% ( 14 ). The incidence rate of Chinese (0.90‰ or 1/1,111) is higher than that of Malays (0.72‰ or 1/1,389) and India (0.38‰ or 1/2,632). The incidence of TS has increased according to a study in Denmark ( 15 ), and the known number of surviving patients with TS steadily increased during that study. Mortality due to TS has also increased. In a UK cohort study, the relative risk of death increased to 4.2 due to an increased risk of diseases of the nervous system, digestive system, cardiovascular system, respiratory system, or genitourinary system ( 16 ).

3. Complications of TS

3.1. cardiovascular abnormalities.

An epidemiological study indicated that the overall mortality rate for patients with TS was 3 times that for the normal population ( 17 ). Cardiovascular events are a major risk factor and occur in 41% of patients. Patients with TS have congenital cardiovascular abnormalities more often than normal people. Heart valve disease is a prevalent abnormality, and patients with TS have a significantly higher incidence of aortic bicuspid deformity. Patients with TS have a risk of dying mainly from an aortic dissection aneurysm, young people with TS have a significantly smaller aortic diameter than the general population, and aortic surgery is indicated for patients with TS over the age of 18 with an ascending aortic size index > 2.5 cm/m 2 to prevent aortic dissection ( 18 ). Due to the limited number of patients and ethnic differences, the exact incidence of cardiovascular disease in patients with TS is unclear and needs to be studied further.

3.2. Autoimmune diseasess

Secondary autoimmune disease is one of the most prominent features of TS due to aneuploidy of the X chromosome ( 19 ). TS causes a variety of autoimmune diseases such as thyroiditis, colitis, celiac disease, type 1 diabetes, and psoriasis, though the most common is autoimmune thyroiditis ( 20 ). Follow-up studies have indicated that the incidence of autoimmune thyroiditis in patients with TS is 3.2% ( 21 ). Chinese (Han) patients with TS are prone to Hashimoto's thyroiditis ( 22 ); the prevalence of Hashimoto's thyroiditis in the general population in China is about 0.4-1.5%. The incidence of Hashimoto's thyroiditis in children with TS is significantly higher than that in other regions ( 23 ). Compared to the general population, patients with TS have an increased incidence of celiac disease; depending on the number of patients studied, its prevalence varies from 2.2 to 8.1%. Celiac disease may aggravate the manifestation of short stature, hypogonadism, and osteoporosis ( 24 , 25 ). The incidence of other autoimmune disease impacts the lives of patients with TS to an extent.

3.3. Skeletal abnormalities

Fractures are considered to be one of the major complications of TS. However, there is currently no evidence of an increased risk of fracture in children and adolescents with TS, but there is evidence that women with TS have about a 25% increased risk of fracture, mainly in the form of forearm fractures ( 26 ). However, tomographic data from patients with TS are disputed, and especially those from studies of elderly patients who have never received estrogen or who have received delayed and suboptimal therapy, and the prevalence of fractures may be overestimated ( 15 ). Landin- Wilhelmsen et al . found that osteoporosis and fractures are related to age in patients with TS; of 70 patients with TS, 16% had suffered a fracture and 50% were over the age of 45 ( 27 ). Timely diagnosis and treatment can help to keep bone healthy in patients.

4. Diagnosis of TS

Prenatal counseling is important, and in some countries a fetus diagnosed with TS is electively aborted. An increasing number of patients are diagnosed with TS during a prenatal examination. Some babies are diagnosed with TS in the womb or at birth based on the results of an ultrasound examination or signs of lymphedema or congenital heart disease (such as aortic coarctation) ( 28 , 29 ). Next-generation sequencing technologies (such as genomes, whole exomes, and gene panel sequencing) are likely to identify more diseases during newborn screening than other methods ( 30 , 31 ). However, errors do occur during prenatal examinations, so a complete karyotype analysis needs to be performed to verify those results. The gold standard for diagnosis is karyotype analysis ( 32 ). Real-time polymerase chain reaction (PCR) gene quantification can be used to diagnose TS. CpG methylation sites specific to X-chromosome inactivation that are widely distributed on the X chromosome may be a marker of TS ( 33 ).

Attention should also be paid to other signs of TS: i ) conductive and sensorineural deafness; regular hearing tests should be conducted every 1-3 years; ii ) hyperopia; a regular eye examination should be performed at age 1.0-1.5; iii ) strabismus, a normal eye examination should be performed at 4 months to 5 years of age; iv ) abnormal kidney or liver function; a renal ultrasound should be performed, and at the age of 10 or so urea and creatinine levels, liver function, and the total blood cell count should be measured; v ) hip dislocation and feeding difficulties; these manifestations should be monitored until infancy; vi ) otitis media and delayed adolescence; these manifestations should be monitored throughout childhood; vii ) scoliosis/kyphosis; these manifestations should be monitored during adolescence; and viii ) dysplasia; this manifestation should be monitored during the entire growth process ( 34 ). Methods of diagnosing TS are listed in Table 2 .

In short, timely diagnosis is very important. In addition to genetic testing, manifestations of TS should be monitored during the entire developmental process so that TS can be treated in a timely manner.

5. Treatment of TS

5.1. growth hormone therapy.

A study has indicated that growth hormone therapy can increase the adult height of patients with TS ( 35 ). A study administered growth hormone to 16 girls with TS in India over a prolonged period; the patients' height SD score and body mass index indicated that patients with TS did benefit from growth hormone ( 36 ). A large number of studies have indicated that administration of high doses of biosynthetic human growth hormone can significantly increase the lifelong height of children with TS, so growth hormone therapy is currently the treatment of choice. The sensitivity of an individual to recombinant human growth hormone (r-hGH) is known to vary ( 37 ); it causes significantly accelerated growth in the first year, but the response gradually diminishes over time ( 38 , 39 ). The patient's lifelong height is related to the age at treatment, time, and dose ( 1 ) and the administration of growth hormone ( 40 ). Various combination therapies are better than therapy with growth hormone alone. Long-term growth hormone therapy has a positive effect on craniofacial development in girls with TS, and its greatest impact is on posterior facial height and the height of the mandibular ramus ( 41 ).

5.2. Estrogen therapy

Retarded adolescent growth is related to a deficiency of estrogen in patients with TS, so estrogen is administered ( 42 ). In the past, estrogen replacement therapy started when the patient was 15 years old to avoid premature closure of the epiphysis, thus affecting the patient's lifelong height. The general recommendation is that patients be started on small doses of estrogen at age 12, enabling the patient to begin developing secondary sexual characteristics and the uterus and to improve liver function, cognitive function, and quality of life ( 43 ). A recent trial administered r-hGH and low-dose estrogen to patients with TS for 20 years ( 44 ). Results clearly indicated that administering very low doses of estradiol and r-hGH in adolescence produced estrogen levels close to those of healthy girls in puberty; as adolescent girls with TS mature, increasing the dose of estradiol greatly increases their final adult height. Many forms of estrogen can be used to treat patients, the most common of which is oral estrogen followed by transdermal patches. However, whether young patients with TS should take oral estrogen or use estradiol transdermal patches needs to be verified further ( 43 ).

5.3. Oxandrolone therapy

In 1986, a trial administered r-hGH alone or in combination with androgen for the first time; once the trial was complete and patients with TS reached their final height, this combination therapy significantly increased growth and final adult height ( 45 ). However, the possibility of adverse reactions (such as masculinization ( e.g . an enlarged clitoris, deeper voice, hirsutism, and acne), a delay in breast development, and lower HDL cholesterol levels) has prompted caution in the clinical use of androgens ( 46 ). Currently, oxytocin is seldom used because hormone replacement has proven to be a more effective treatment when using estradiol in combination with r-hGH ( 47 ).

5.4. Other treatments

Liao et al . administered nandrolone phenylpropionate in the early stages of TS to promote the synthesis of protein, and they also administered a traditional Chinese medicine - Liuwei Dihuang pills - to aid the kidneys ( 48 ). This alleviated the lack of estrogen and it also prompted the patient's genital organs and secondary sexual characteristics to develop to an extent, resulting in limited menstruation. Fractures are one of the major complications of TS. The mechanism of bone injury in patients is not clear, but an estrogen deficiency and X chromosome abnormalities are key factors. Several studies have noted a low level of vitamin D in the serum of patients with TS, and this may lead to lower bone mineral density ( 27 , 49 ). Therefore, vitamin D supplementation and an active lifestyle including weight-bearing activities and regular sports are of great benefit to the health of bone in patients with TS ( 50 ). Forms of treatment are listed in Table 3 .

6. Prospects for diagnosis and treatment of TS

TS is a rare disease in which all or part of the X chromosome is missing, and patients' growth and lives are heavily affected. Timely diagnosis and treatment is crucial. The incidence of cardiovascular diseases and bone abnormalities in TS is currently being studied. In addition to unusual physical phenotypes, patients with TS exhibit characteristic neurocognitive features that involve deficits in visual spatial processing. Cognitive deficits that have been found in TS seem to persist into adulthood. Whether this is caused by genetic mechanisms or only by hormones and other biological factors is unclear. Genetic and hormonal effects may need to be studied in the same patient. Further research is needed in this area to determine how genes, karyotypes, and the brain are linked to cognition ( 51 ). The latest structural and molecular biology techniques need to be used in post-mortem studies, modern genomic strategies need to be adopted, and medical histories need to be routinely reported ( 52 ).

Given trends in biomedical development, the next generation of treatment will be based on stem cells and regenerative medicine. Stem cell research has become an area of interest. Stem cells are cells that have the potential to proliferate, differentiate, and self-renew. Somatic cells are dedifferentiated into pluripotent stem cells by introducing foreign genes, and those stem cells are known as induced pluripotent stem (iPS) cells. The major advantage of iPS cells over embryonic stem (ES) cells is that iPS cells can be derived from a patient's own somatic cells, thus avoiding immunological rejection and ethical issues ( 53 ). For rare diseases such as TS, the somatic cells of patients can be extracted and their dedifferentiation into stem cells can be induced to create a model of the disease in order to study its pathogenesis and to develop new methods of studying and treating that disease.

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Critical Writing Program Fall 2024 Critical Writing Seminar in PHIL: The Ethics of Artificial Intelligence: Researching the White Paper

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Research the White Paper

Researching the White Paper:

The process of researching and composing a white paper shares some similarities with the kind of research and writing one does for a high school or college research paper. What’s important for writers of white papers to grasp, however, is how much this genre differs from a research paper.  First, the author of a white paper already recognizes that there is a problem to be solved, a decision to be made, and the job of the author is to provide readers with substantive information to help them make some kind of decision--which may include a decision to do more research because major gaps remain. 

Thus, a white paper author would not “brainstorm” a topic. Instead, the white paper author would get busy figuring out how the problem is defined by those who are experiencing it as a problem. Typically that research begins in popular culture--social media, surveys, interviews, newspapers. Once the author has a handle on how the problem is being defined and experienced, its history and its impact, what people in the trenches believe might be the best or worst ways of addressing it, the author then will turn to academic scholarship as well as “grey” literature (more about that later).  Unlike a school research paper, the author does not set out to argue for or against a particular position, and then devote the majority of effort to finding sources to support the selected position.  Instead, the author sets out in good faith to do as much fact-finding as possible, and thus research is likely to present multiple, conflicting, and overlapping perspectives. When people research out of a genuine desire to understand and solve a problem, they listen to every source that may offer helpful information. They will thus have to do much more analysis, synthesis, and sorting of that information, which will often not fall neatly into a “pro” or “con” camp:  Solution A may, for example, solve one part of the problem but exacerbate another part of the problem. Solution C may sound like what everyone wants, but what if it’s built on a set of data that have been criticized by another reliable source?  And so it goes. 

For example, if you are trying to write a white paper on the opioid crisis, you may focus on the value of  providing free, sterilized needles--which do indeed reduce disease, and also provide an opportunity for the health care provider distributing them to offer addiction treatment to the user. However, the free needles are sometimes discarded on the ground, posing a danger to others; or they may be shared; or they may encourage more drug usage. All of those things can be true at once; a reader will want to know about all of these considerations in order to make an informed decision. That is the challenging job of the white paper author.     
 The research you do for your white paper will require that you identify a specific problem, seek popular culture sources to help define the problem, its history, its significance and impact for people affected by it.  You will then delve into academic and grey literature to learn about the way scholars and others with professional expertise answer these same questions. In this way, you will create creating a layered, complex portrait that provides readers with a substantive exploration useful for deliberating and decision-making. You will also likely need to find or create images, including tables, figures, illustrations or photographs, and you will document all of your sources. 

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• Last Updated: Sep 9, 2024 4:14 PM
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Research: How to Delegate Decision-Making Strategically

• Hayley Blunden
• Mary Steffel

A recent study examined the negative consequences of handing off responsibilities — and how to avoid them.

Delegating work can help free up managers’ time and energy while empowering their employees to take on meaningful tasks. Yet, previous research has shown that delegating decision-making can cause employees to feel overly burdened. In a new paper, researchers examine the negative impact that handing over choice responsibility can have on delegator-delegate relationships. They offer research-backed solutions for delegating decisions more fairly in order to offset some of delegation’s negative interpersonal consequences.

Effective delegation is critical to managerial success : delegating properly can help empower employees , and those who delegate can increase their earnings . Delegation can also be a way for managers to give employees experience and control, especially when they delegate decision-making responsibilities, which allow employees to exhibit agency over important stakes. Yet, some of our recent research has shown that employees can view delegated decision-making as a burden that they would prefer to avoid.

• Hayley Blunden is an assistant professor of management at the Kogod School of Business at American University. Her research focuses on how leaders can make workplace interaction more productive.
• MS Mary Steffel is an associate professor of marketing at D’Amore-McKim School of Business, Northeastern University. Her research focuses on examining when we call upon others to help us make decisions, how we navigate making decisions for others, and how we can support others in making better decisions. See her faculty page here .

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