Diagram of the germline sequencing analysis and variant prioritization strategy, showing the main technical processes.

WES data from 10 melanoma patients were analyzed using quality and frequency-based filters, resulting in 288 rare non-synonymous variants identified in both affected members of each family, which were investigated further for their predicted pathogenicity and gene function. WES, whole exome sequencing. TMAP, Torrent Mapper; TVC, Torrent Variant Caller; GATK, Genomic Analysis Toolkit; QC, Quality Control; MAF, minor allele frequency; LoF, Loss of Function.