Personalized genome structure via single gamete sequencing

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 perform...

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Bibliographic Details
Main Authors: Ruqian Lyu, Vanessa Tsui, Davis J. McCarthy, Wayne Crismani
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-021-02327-w
Description
Summary: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.
ISSN:1474-760X