Whole Exome Sequencing and Targeted Sequence Capture
Genomic DNA was captured on exomes at the W.M. Keck Facility at Yale University using Roche NimbleGen 2.1M Human Exome Array, as described earlier (Keramati et al., 2014). In brief, DNA libraries were prepared and sequenced on the Illumina Genome Analyzer, followed by image analysis and base calling. Sequences were aligned against human reference genome (UCSC Genome Browser hg19) and processed using MAQ program SAMtools. SAMtools was also used for the single-nucleotide variant detection and filtering against the reference genome as described earlier. Filters were applied against published databases.