Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms.

ABSTRACT:

Background

A central aim for studying runs of homozygosity (ROHs) in genome-wide SNP data is to detect the effects of autozygosity (stretches of the two homologous chromosomes within the same individual that are identical by descent) on phenotypes. However, it is unknown which current ROH detection program, and which set of parameters within a given program, is optimal for differentiating ROHs that are truly autozygous from ROHs that are homozygous at the marker level but vary at unmeasured variants between the markers.

Method

We simulated 120 Mb of sequence data in order to know the true state of autozygosity. We then extracted common variants from this sequence to mimic the properties of SNP platforms and performed ROH analyses using three popular ROH detection programs, P

SUBMITTER: Howrigan DP 

PROVIDER: S-EPMC3188534 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature