The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans.

ABSTRACT:

Background

Variations in the human genome have been studied extensively. However, little is known about the role of micro-inversions (MIs), generally defined as small (< 100 bp) inversions, in human evolution, diversity, and health. Depicting the pattern of MIs among diverse populations is critical for interpreting human evolutionary history and obtaining insight into genetic diseases.

Results

In this paper, we explored the distribution of MIs in genomes from 26 human populations and 7 nonhuman primate genomes and analyzed the phylogenetic structure of the 26 human populations based on the MIs. We further investigated the functions of the MIs located within genes associated with human health. With hg19 as the reference genome, we detected 6968 MIs among the 1937 human sample

SUBMITTER: Qu L 

PROVIDER: S-EPMC7658078 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature