Exome Sequencing of Rare Genetic Disorder

Genomic DNA was extracted from blood samples using standard phenol-chloroform extraction method [9 (link)]. Exome capture was performed in the proband (III:4), by BGI-Shenzhen using NimbleGen SeqCap EZ Human Exome Library v2.0 (Roche NimbleGen, Inc., Madison, WI, USA), and sequencing was performed using a HiSeq 2000 platform (Illumina, San Diego, CA, USA). All steps were performed according to the manufacturer’s instructions [10 (link)]. The enriched library targeting the exome was sequenced on the HiSeq 2000 platform to get paired-end reads with a read length of 90-bp [11 (link)]. Exome sequencing depth of 68.01× were obtained to provide sufficient depth to accurately call variants at 99.17% of each targeted exome.