Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.

ABSTRACT:

Background

Genetic variants, underlining phenotypic diversity, are known to distribute unevenly in the human genome. A comprehensive understanding of the distributions of different genetic variants is important for insights into genetic functions and disorders.

Methods

Herein, a sliding-window scan of regional densities of eight kinds of germline genetic variants, including single-nucleotide-polymorphisms (SNPs) and four size-classes of copy-number-variations (CNVs) in the human genome has been performed.

Results

The study has identified 44,379 hotspots with high genetic-variant densities, and 1135 hotspot clusters comprising more than one type of hotspots, accounting for 3.1% and 0.2% of the genome respectively. The hotspots and clusters are found to co-localize with

SUBMITTER: Long X 

PROVIDER: S-EPMC7976700 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature