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.