WES of  Homo sapiens: male whole blood
Genomic DNA was isolated by  phenol-chloroform extraction from peripheral blood cells or primary  fibroblasts from the patients. DNA (3 g) was sheared with a Covaris S2  Ultrasonicator (Covaris). An adapter-ligated library was prepared with the  TruSeq DNA Sample Prep Kit (Illumina). Exome capture was performed with the  SureSelect Human All Exon 50 Mb kit (Agilent Technologies). Paired-end  sequencing was performed on an Illumina HiSeq 2000 (Illumina), generating  100-base reads.