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Personalized genome structure via single gamete sequencing

Authors :
Ruqian Lyu
Vanessa Tsui
Davis J. McCarthy
Wayne Crismani
Source :
Genome Biology, Vol 22, Iss 1, Pp 1-19 (2021)
Publication Year :
2021
Publisher :
BMC, 2021.

Abstract

Abstract Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics.

Details

Language :
English
ISSN :
1474760X
Volume :
22
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genome Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.6d9f727f079f4487a2922fa34a5e57c8
Document Type :
article
Full Text :
https://doi.org/10.1186/s13059-021-02327-w