Personalized genome structure via single gamete sequencing

Author:

Lyu RuqianORCID,Tsui VanessaORCID,McCarthy Davis J.ORCID,Crismani WayneORCID

Abstract

AbstractGenetic 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.

Funder

National Health and Medical Research Council

Publisher

Springer Science and Business Media LLC

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