NGDC - GSA for Human

HRA000375

HRA000375.xlsx

Title:

Large-scale Trio-based Whole-genome Sequencing and RNA sequencing Identify Multiple Genes Involved in the Pathogenesis of Biliary Atresia

Release date:

2024-08-21

Description:

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.

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA003304

Study type:

Disease Study

Disease name:

biliary atresia

Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC NO.:

HDAC000209

DAC name:

Shanghai Jiao Tong University

Contact person:

Qin Shengying

Email:

chinsir@sjtu.edu.cn

Description:

Bio-X institute of Shanghai Jiao Tong University

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