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Personalized genome structure via single gamete sequencing

Journal

GENOME BIOLOGY
Volume 22, Issue 1, Pages -

Publisher

BMC
DOI: 10.1186/s13059-021-02327-w

Keywords

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Funding

  1. Australian National Health and Medical Research Council [GNT1129757, GNT1112681, GNT1185387]
  2. Australian Commonwealth Government
  3. University of Melbourne
  4. SVI Foundation Top-Up Scholarship from St. Vincent's Institute
  5. St. Vincent's Institute Top-up scholarship

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Genetic maps are essential for understanding disease genetics and evolutionary processes. Single-cell gamete sequencing has the potential to combine the advantages of short-read sequencing with the ability to build personalized genetic maps, opening up a new space in personalized genetics.
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.

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