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项目编号 PRJCA003304
项目标题 Large-scale Trio-based Whole-genome Sequencing and RNA sequencing Identify Multiple Genes Involved in the Pathogenesis of Biliary Atresia
涉及领域 Medical
数据类型 Whole genome sequencing
Transcriptome or Gene expression
Raw sequence reads
Targeted loci cultured
物种名称 Homo sapiens
描述信息 In our study, we aimed to reveal genes that involved in the pathogenesis process of BA using 1,227 samples from 409 family trios with biliary atresia. Our study successfully identified 50 de novo single nucleotide variants (SNVs) or insertions and deletions (indels), 104 compound heterozygous mutated, 3 de novo copy number variants (CNVs) genes, and 6 transmission disequilibrium test (TDT) significant SNPs for the first time. We utilized target sequencing of independent population to validate significant roles of several genes in BA pathogenesis. A case-control study was performed using RNA sequencing (RNA-seq) and identified multiple differentially expressed genes (DEGs), and found that 9 de novo, 25 compound heterozygous mutated and 1 TDT significant gene were differentially expressed. We also discovered that cell adhesion and immune related pathways were highly enriched in both mutated genes of WGS and DEGs of RNA-seq. Together, these findings suggested that these identified genes are actively involved in the cell adhesion and immunity related processes in the pathogenesis of BA. The groundbreaking results of this large-scale trios-based WGS, target sequencing and RNA-seq provide new potential therapeutic targets of BA disease.
样品范围 Trios and case-control
发布日期 2022-08-24
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
National Natural Science Foundation of China (NSFC) 81771633
National Natural Science Foundation of China (NSFC) 81873545
National Natural Science Foundation of China (NSFC) 81974059
提交者 Shengying Qin (chinsir@sjtu.edu.cn)
提交单位 Shanghai Jiao Tong University
提交日期 2020-08-24

项目包含数据信息

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BioSample (1331)  show -