Structural variation on the human Y chromosome from population-scale resequencing.

ABSTRACT:

Aim

To investigate the information about Y-structural variants (SVs) in the general population that could be obtained by low-coverage whole-genome sequencing.

Methods

We investigated SVs on the male-specific portion of the Y chromosome in the 70 individuals from Africa, Europe, or East Asia sequenced as part of the 1000 Genomes Pilot project, using data from this project and from additional studies on the same samples. We applied a combination of read-depth and read-pair methods to discover candidate Y-SVs, followed by validation using information from the literature, independent sequence and single nucleotide polymorphism-chip data sets, and polymerase chain reaction experiments.

Results

We validated 19 Y-SVs, 2 of which were novel. Non-reference allele counts ranged

SUBMITTER: Espinosa JR 

PROVIDER: S-EPMC4500966 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature