Pathogenic and likely pathogenic variants detected.

NIAID Data Ecosystem2026-03-12 收录

致病性变异

家系遗传变异分析

数据链接：

https://figshare.com/articles/dataset/Pathogenic_and_likely_pathogenic_variants_detected_/14065493 数据链接链接失效反馈

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资源简介：

Pathogenic and likely pathogenic variants detected.

创建时间：

2021-02-19

Atlas, TGP, pathogenic variants

基因组学

致病性变异

Allele age estimated using GEVA on data from the 1000 Genomes Project (TGP), for variants annotated by PolyPhen-2 and SIFT (information available through Ensembl), across all autosomes.

DataCite Commons2020-08-28 更新80

Additional file 6: Table S9A. of Correction to: FLAGS, frequently mutated genes in public exomes

基因突变分析

致病性变异

The list of input attributes for each gene that were fed into R for statistical analyses (dN/dS ratio, gene length, # of MeSH terms, # of HPO terms, and # of paralogs). Table S9B. The list of number o

NIAID Data Ecosystem30

Description of variants with RFD ≥ 10%.

罕见遗传病

致病性变异

Rare genetic diseases impact many people worldwide and are challenging to diagnose. In this study, we introduce a novel regional population cohort approach to identify pathogenic variants causing Mend

NIAID Data Ecosystem20

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

癌症基因组数据

致病性变异

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

NIAID Data Ecosystem50

Additional file 2 of Relation between DNA ionization potentials, single base substitutions and pathogenic variants

DNA序列分析

致病性变异

Table S4. Excel file with the normalized and the standard SBS frequencies for single bases (sheet-Single), base doublets (sheet-Doublet), triplets (sheet-Triplet), quadruplets (sheet-Quadruplet), and

DataCite Commons2020-08-26 更新30

Pathogenic and likely pathogenic variants detected.

资源简介：

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