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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 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.

SUBMITTER: Lyu R

PROVIDER: S-EPMC8054432 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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Personalized genome structure via single gamete sequencing.

Lyu Ruqian R Tsui Vanessa V McCarthy Davis J DJ Crismani Wayne W

Genome biology 20210419 1

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 a ...[more]

PMID: 33874978

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