title: WES of Homo sapiens: male wart 2
design: We extracted genomic DNA from blood samples collected from the patients, their parents and siblings, with the iPrep PureLink gDNA Blood Kit and iPrep Instruments from Life Technologies. Exome capture was performed with the SureSelect Human All Exon 71 Mb kit (Agilent Technologies). Paired-end sequencing was performed on a HiSeq 2500 machine (Illumina) generating 100-base reads. We aligned the sequences with the GRCh37 reference build of the human genome, using the BWA. Downstream processing and variant calling were performed with the Genome Analysis Toolkit, SAMtools (Li et al., 2009), and Picard tools. Substitution and InDel calls were made with the GATK HaplotypeCaller. Our in-house software was used to filter the variants.