ROH Caller

Regions of homozygosity (ROH) are detected as part of the small variant caller. The caller detects and outputs the runs of homozygosity from whole genome calls on autosomal human chromosomes. Sex chromosomes are ignored. ROH output allows downstream tools to screen for and predict consanguinity between the parents of the proband subject.

A region is defined as consecutive variant calls on the chromosome with no large gap in between these variants. In other words, regions are broken by chromosome or by large gaps with no SNV calls. The gap size is set to 3 Mbases.