Regions of Homozygosity Metrics

Metrics are reported on a per sample level. Regions of Homozygosity (ROH) are detected as part of the small variant caller. 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.

Percent SNVs in large ROH ( >= 3000000)—The percentage of SNVs present in large ROH.
Number of large ROH ( >= 3000000)—The number of large ROH detected by the small variant caller.