官方服务：
资源简介：
Call disease-causing variants
应用场景：
创建时间：
2018-03-31
相关数据集
Rhinopithecus roxellana RefSeq Genome sequencing and assembly. Rhinopithecus roxellana
The reference sequence (RefSeq) genome assembly is derived from the submitted GenBank assembly (see linked project PRJNA524949). Annotation provided on the RefSeq genomic records is based on NCBI anno
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Macaca sp. Raw sequence reads
Mitonuclear incompatibilities and introgression genomics in macaque monkeys (Macaca)
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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
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
