Enrichment of Potential Pathological Variants in X-Exome of XLID Cohort with Different Variant Filters.

Average number of variants remaining per sample after sequential or aggregate filtering steps.1 Strand and Proximity Pre-Filters are applied universally on top of all other filters. The percent of variants remaining after a particular filter is relative to the variant output after application of the Strand and Proximity Pre-Filters and is provided in column 5.2 Shared Segment Filter: for demonstration purposes, results of this filter are provided separately from the rest of the Affected Kindred/Cross-Cohort Filter.3 [1000G] Male-162 Internal Exome Filter: removes variants from the XLID cohort shared in common with 162 males from the 1000 Genomes.4 Exome Variant Server (Male Only) Filter: removes variants from the XLID cohort shared in common with variants of the male fraction of EVS.5 “Non-Clinical” dbSNP is redacted of known, probable, or potentially pathological variants in dbSNP Build 137.6 Affected Kindred/Cross-Cohort Filter: results exclude the Shared Segment Filter component (see Row 2).7 All filters, including re-introduction of known rare pathological variants (from dbSNP) that are inappropriately eliminated by the Affected Kindred/Cross-Cohort Filter.Enrichment of Potential Pathological Variants in X-Exome of XLID Cohort with Different Variant Filters.