Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations.

ABSTRACT:

Background

Polymorphic human Alu elements are excellent tools for assessing population structure, and new retrotransposition events can contribute to disease. Next-generation sequencing has greatly increased the potential to discover Alu elements in human populations, and various sequencing and bioinformatics methods have been designed to tackle the problem of detecting these highly repetitive elements. However, current techniques for Alu discovery may miss rare, polymorphic Alu elements. Combining multiple discovery approaches may provide a better profile of the polymorphic Alu mobilome. AluYb8/9 elements have been a focus of our recent studies as they are young subfamilies (~2.3 million years old) that contribute ~30% of recent polymorphi

SUBMITTER: Feusier J 

PROVIDER: S-EPMC5531096 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature