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Genome structural variation in human evolution

journal contribution
posted on 02.09.2021, 10:32 by EJ Hollox, LW Zuccherato, S Tucci
Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and variation that does not change copy number of a genomic region, such as an inversion. Improved reference genomes, combined with widespread genome sequencing using short-read sequencing technology, and increasingly using long-read sequencing, have reignited interest in SV. Recent large-scale studies and functional focused analyses have highlighted the role of SV in human evolution. In this review, we highlight human-specific SVs involved in changes in the brain, population-specific SVs that affect response to the environment, including adaptation to diet and infectious diseases, and summarise the contribution of archaic hominin admixture to present-day human SV.

History

Author affiliation

Department of Genetics and Genome Biology

Version

AM (Accepted Manuscript)

Published in

Trends in Genetics

Publisher

Elsevier BV

issn

0168-9525

eissn

1362-4555

Copyright date

2021

Available date

17/07/2022

Spatial coverage

England

Language

eng