Journal article

Personalized genome structure via single gamete sequencing

Ruqian Lyu, Vanessa Tsui, Davis J McCarthy, Wayne Crismani

GENOME BIOLOGY | BMC | Published : 2021


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.


Awarded by Australian National Health and Medical Research Council

Funding Acknowledgements

WC and DM receive fellowships and funding related to this work from the Australian National Health and Medical Research Council (GNT1129757, GNT1112681, GNT1185387). DM is supported by funding from Paul Holyoake and Marg Downey. RL and VT are recipients of a Research Training Program Scholarship from the Australian Commonwealth Government and the University of Melbourne and SVI Foundation Top-Up Scholarship from St. Vincent's Institute. RL receives a Xing Lei PhD Top-up Scholarship in Mathematics and Statistics. VT receives a St. Vincent's Institute Top-up scholarship.