Genetic Analysis
The genomic DNA was extracted by Universal Genomic DNA kit (CWBIO#
CWS002). And the exome capture, high throughput sequencing, and standard
filtering were performed in the Beijing Novogene Technology Co., Ltd.
(Beijing, China, http://www.novogene.com). The genomic DNA samples
were randomly fragmented approximately 180 to 280 bp long by Covaris.
All exomes were captured by Agilent SureSelect Human All Exon V6 kit and
sequenced by Illumina HiSeq Pair End 150 bp platform. The available
sequencing data were compared with the reference genome (GRCh37/hg19).
The bioinformatics analyses were conducted by Novogene and Mygenostics
in Beijing, China.
WES
indicated
gene
variants associated with DSD, such as structural
variation
(SV), single-nucleotide variation (SNV), and
insertion
and deletions (INDELs).