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资源简介：
Call disease-causing variants
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创建时间：
2018-03-31
相关数据集
Mutations identified in index cases.
MAF = minor allele frequency consulted in European American (EA) individuals in exome sequencing project. N/I = variation not previously identified in general population. Genotype: HT = Heterozygous/H
Figshare2015-12-02 更新50
Genes with potentially damaging variants for Burkitt’s lymphoma.
We included genes that had at least one child but nor more than two with a potentially damaging variant. Scores provided by VarElect, our ranked version of the VarElect scores, and our overall ranking
NIAID Data Ecosystem30
tableS5-NOBOX_POIvariants_reannotation-GnomAD-v4-Hmz-revised
Detailed POI-adjusted reclassification of NOBOX variants published in POI cases
Zenodo2025-02-14 更新20
Macaca sp. Raw sequence reads
Mitonuclear incompatibilities and introgression genomics in macaque monkeys (Macaca)
NIAID Data Ecosystem40
GBA in Parkinson's disease: variant detection and pathogenicity scoring matters
In this study, we sequenced the full-length GBA gene on the Oxford Nanopore GridION as an 8.9 kb amplicon and determined the frequency of GBA variants in Norwegian patients with PD and healthy control
NIAID Data Ecosystem30
