Personalized genome structure via single gamete sequencing.

Genome Biol

DNA Repair and Recombination Laboratory, St. Vincent's Institute of Medical Research, Melbourne, Australia.

Published: April 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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054432PMC
http://dx.doi.org/10.1186/s13059-021-02327-wDOI Listing

Publication Analysis

Top Keywords

gamete sequencing
8
genetic maps
8
personalized genome
4
genome structure
4
structure single
4
single gamete
4
sequencing genetic
4
maps fundamental
4
fundamental building
4
building understanding
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!