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Chapter 1 - Basic Genetics and Cytogenetics: A Brief Reminder

Published online by Cambridge University Press:  15 December 2022

By
Karen D. Sermon
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
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Summary

This brief reminder chapter aims to freshen up what professionals in reproduction may have learned a while ago at university, and will also serve the reader as a source of information to comprehend the following, more complex chapters. At the end of this chapter, basic study books or broad reviews are recommended for further reading rather than regular scientific references, to help the reader in the further understanding of this textbook.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 1 - 15
Publisher: Cambridge University Press
Print publication year: 2023

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References

Strachan, T, Goodship, J, Chinnery, P. Genetics and Genomics in Medicine. New York: Garland Science, 2015.Google Scholar
Nussbaum, R, McInnes, R, Willard, HF, Hamosh, A. Thompson and Thompson Genetics in Medicine, 8th ed. Saunders Elsevier, 2016.Google Scholar
Ringo, J. Fundamental Genetics. Cambridge: Cambridge University Press, 2004.Google Scholar
www.ensembl.org. The Ensembl project produces genome databases for vertebrates and other eukaryotic species.Google Scholar
Shaffer, LG, McGowan-Jordan, J, Schmid, M. ISCN 2013: An International System for Human Cytogenetic Nomenclature. Basel: Karger, 2013.Google Scholar
Metzker, ML. Sequencing technologies: the next generation. Nat Rev Genet 2010;11:31–46.Google Scholar
Schadt, EE, Turner, S, Kasarskis, A. A window into third-generation sequencing. Hum Mol Genet 2010;19(R2):R227–R240. https://doi.org/10.1093/hmg/ddq416CrossRefGoogle ScholarPubMed
van Dijk, EL, Auger, H, Jaszczyszyn, Y, Thermes, C. Ten years of next-generation sequencing technology. Trends Genet 2014;30(9):418–26. https://doi.org/10.1016/j.tig.2014.07.001CrossRefGoogle ScholarPubMed
an Dijk, EL, Jaszczyszyn, Y, Naquin, D, Thermes, C. The third revolution in sequencing technology. Trends Genet 2018;34(9):666–81. https://doi.org/10.1016/j.tig.2018.05.008Google Scholar
Gilissen, C, Hoischen, A, Brunner, H, et al. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012;20:490–7. https://doi.org/10.1038/ejhg.2011.258CrossRefGoogle ScholarPubMed
Paulson, H. Repeat expansion diseases. Handb Clin Neurol 2018;147:105–23.Google Scholar

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