WES of Homo Sapiens
Genomic DNA extracted from the patients blood cells or lymphoblastoid cell lines was sheared with a Covaris S2 Ultrasonicator. An adapter-ligated library was prepared with the Paired-End Sample Prep kit V1 (Illumina). Exome capture was performed with the SureSelect Human All Exon kit (50 or 71 Mb version - Agilent Technologies). Sequencing was performed on an Illumina Genome Analyzer IIx (Illumina) generating 72- or 100-base reads.