BRIDGES - RAD51D

NIAID Data Ecosystem2026-05-02 收录

变异功能分析

癌症遗传学

数据链接：

https://figshare.com/articles/dataset/BRIDGES_-_RAD51D/10272029 数据链接链接失效反馈

官方服务：

资源简介：

This dataset includes files of the functional analysis of potential spliceogenic variants of the RAD51D gene

创建时间：

2025-07-25

RNA-Seq of mouse embryonic stem cells derived from genetically diverse inbred mouse strains with varying alleles at Lifr gene. RNA-Seq of mouse embryonic stem cells derived from genetically diverse inbred mouse strains with varying alleles at Lifr gene

干细胞转录组学

变异功能分析

We measured genome-wide gene expression of embryonic stem cells derived from two different inbred mouse genetic backgrounds. For each genetic background we also conducted an allele swap at SNP rs50454

NIAID Data Ecosystem70

Table S15. Changes in gene expression that overlap with SVs

变异功能分析

基因表达调控

Table S15. Changes in gene expression that overlap with SVs

Figshare2021-09-26 更新70

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

遗传隔离群体基因组

变异功能分析

Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants o

NIAID Data Ecosystem50

High/moderate impact gene mutations found in CL patients with existing, defined variant names.

疾病相关基因突变

变异功能分析

High/moderate impact gene mutations found in CL patients with existing, defined variant names.

NIAID Data Ecosystem70

Assessment of pathogenicity of missense variants identified in this study.

变异致病性评估

变异功能分析

Assessment of pathogenicity of missense variants identified in this study.

NIAID Data Ecosystem50