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Genome Characterization of 9p- Syndrome

NIAID Data Ecosystem2026-03-12 收录

疾病基因组学

染色体缺失

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP276380 数据链接链接失效反馈

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资源简介：

We characterized the precise genomic breakpoints of the complex structural variant associated with 9p- syndrome in one individual.

应用场景：

创建时间：

2020-08-27

染色体缺失

基因型-表型关联分析

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The

NIAID Data Ecosystem40

Additional file 5 of Chromatin architecture reveals cell type-specific target genes for kidney disease risk variants

疾病基因组学

染色质构象

Additional file 5: Table S8. Identified target genes for lead SNPs of kidney related traits GWAS overlapping with enhancers.

NIAID Data Ecosystem20

GWAS results conditioned on coding variants

变异关联分析

疾病基因组学

The research detailed in Connally et al. 2021 (https://www.medrxiv.org/content/10.1101/2021.06.08.21258515v2) requires GWAS summary statistics for non-coding variants without the effects of nearby cod

DataONE2022-12-05 更新20

Additional file 1 of The genomic landscape of Ménière's disease: a path to endolymphatic hydrops

疾病基因组学

梅尼埃病病理机制

Supplementary Material 1.

Figshare2024-08-18 更新40

Whole genome sequencing of WT and diseased LCLs, iPSCs, and HAP1 cells

疾病基因组学

细胞模型测序

Whole genome sequencing of 6 presumed healthy LCL samples from 5 unique individuals. All individuals are members of the personal genomes project and are PIGI consented.Whole genome sequencing of 5 iPS

NIAID Data Ecosystem20

Genome Characterization of 9p- Syndrome

资源简介：

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