title: WES establishes a case with Alstrm syndrome
design: DNA was isolated from peripheral blood using a DNA Isolation Kit (Bioteke Corporation, AU1802, Wuxi, China). Genomic DNA samples (1 g) were fragmented into 200300-bp portions using a Covaris Acoustic System (Covaris, Woburn, MA, USA). The DNA fragments were then processed by end repair, A-tailing, adaptor ligation and four-cycle precapture polymerase chain reaction amplification, after which all exons and 50 bp in their adjacent introns were captured by a SeqCap EZ Med Exome Enrichment Kit (Roche, Madison, WI, USA). Postcapture amplification and purification were performed on the DNA library