Exome Sequencing from Whole Blood

Genomic DNA extraction from whole blood was achieved with the QIAamp mini-isolation kit (Qiagen, Hilden, Germany); concentrations were determined by UV spectrophotometry using a Nanodrop N1000 (Nanodrop Technologies Inc., Wilmington, DE, USA) [15 (link)]. Exome sequencing of genomic DNA was accomplished for all of the individuals marked with an asterisk in Figure S1. Target enrichment sequencing was performed, following manufacturer’s protocols, using SureSelect hybridization capture reagents with v6-capture (Agilent Technologies, Santa Clara, CA, USA). Enriched library preparations were sequenced on the HiSeq 2500 platform (Illumina, San Diego, CA, USA). Linkage analysis using exome data was performed using pipeline-produced variant call format (VCF) files.