Personalized genome structure via single gamete sequencing

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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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
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spelling doaj-6d9f727f079f4487a2922fa34a5e57c82021-04-25T11:47:42ZengBMCGenome Biology1474-760X2021-04-0122111910.1186/s13059-021-02327-wPersonalized genome structure via single gamete sequencingRuqian Lyu0Vanessa Tsui1Davis J. McCarthy2Wayne Crismani3Bioinformatics and Cellular Genomics, St. Vincent’s Institute of Medical ResearchDNA Repair and Recombination Laboratory, St. Vincent’s Institute of Medical ResearchBioinformatics and Cellular Genomics, St. Vincent’s Institute of Medical ResearchDNA Repair and Recombination Laboratory, St. Vincent’s Institute of Medical ResearchAbstract 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.https://doi.org/10.1186/s13059-021-02327-w
collection DOAJ
language English
format Article
sources DOAJ
author Ruqian Lyu
Vanessa Tsui
Davis J. McCarthy
Wayne Crismani
spellingShingle Ruqian Lyu
Vanessa Tsui
Davis J. McCarthy
Wayne Crismani
Personalized genome structure via single gamete sequencing
Genome Biology
author_facet Ruqian Lyu
Vanessa Tsui
Davis J. McCarthy
Wayne Crismani
author_sort Ruqian Lyu
title Personalized genome structure via single gamete sequencing
title_short Personalized genome structure via single gamete sequencing
title_full Personalized genome structure via single gamete sequencing
title_fullStr Personalized genome structure via single gamete sequencing
title_full_unstemmed Personalized genome structure via single gamete sequencing
title_sort personalized genome structure via single gamete sequencing
publisher BMC
series Genome Biology
issn 1474-760X
publishDate 2021-04-01
description 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.
url https://doi.org/10.1186/s13059-021-02327-w
work_keys_str_mv AT ruqianlyu personalizedgenomestructureviasinglegametesequencing
AT vanessatsui personalizedgenomestructureviasinglegametesequencing
AT davisjmccarthy personalizedgenomestructureviasinglegametesequencing
AT waynecrismani personalizedgenomestructureviasinglegametesequencing
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