Identification of susceptibility genes in @entity3384 with or without XXXX using whole-exome sequencing.

@entity1 @entity9147 @entity600 @entity4334 @entity2419 @entity3384
BACKGROUND: @entity3384 with or without @entity2419 ( @entity9147 /P) is among the most common @entity600 . The etiology of @entity9147 /P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to @entity9147 /P. MATERIAL AND METHODS: Whole-exome sequencing (WES) was performed in 8 fetuses with @entity9147 /P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. RESULTS: By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single @entity4334 variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. CONCLUSIONS: We have found and confirmed 16 susceptibility genes responsible for @entity9147 /P, which may play important role in the etiology of @entity9147 /P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of @entity9147 /P but also in diagnosis and treatment of the @entity1 with @entity9147 /P.
