Filtering results for compound heterozyotes in a case study.

With the filter settings for genotype frequency <0.01, effect on protein level (functional filter: missense, nonsense, stop loss, splice site, insertions or deletions), and compound heterozygous yields six variants in three genes. MUC16 and NBPR10 are both genes from large gene families known for their high variability and detection artifacts due to pseudogenes. The heterozygotes in PIGO remain as the likeliest candidates. The Show icon at the right end of the line links to an expert curated annotation database that indicates that the mutation in PIGO is causing Hyperphosphatasia with mental retardation syndrome and has been published in [9]. The gene view for PIGO lists all variant annotations for this gene and links to further knowledge bases. The length of the coding sequence of the longest transcript (max. CDS) and the mean number of rare heterozygous variant calls per exome (MRHC) are important parameters for the assessment of candidate genes.