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

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

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

Atlas, TGP, pathogenic variants

资源简介：

Atlas, TGP, pathogenic variants

资源简介：

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