Var-MD

National Human Genome Research Institute2026-05-09 收录

罕见疾病遗传学

下一代测序变异分析

数据链接：

https://research.nhgri.nih.gov/software/Var-MD/数据链接链接失效反馈

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资源简介：

An annotation and analysis tool for next-generation sequencing variants in rare diseases and small pedigrees.

Gene-RD-provenance_CTL_linkset

罕见疾病遗传学

基因-疾病关联

In this dataset provides a CyTargetlinker (a Cytoscape app) compatible linkset to link monogenic, rare diseases (OMIM identifier) with a known genetic cause (HGNC, Ensembl) supplemented with manually

Figshare2020-03-06 更新50

MOESM4 of Graft versus host disease and microchimerism in a JAK3 deficient patient

移植物抗宿主病

下一代测序变异分析

Additional file 4. NGS variants data in VCF.txt format

Figshare2019-08-23 更新40

Additional file 3 of Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

罕见疾病遗传学

剪接变异致病性预测

Additional file 3: Table S5. Set of benign variants

Figshare2022-11-14 更新20

Expression data from peripheral blood from healthy and predisposed individuals. Homo sapiens

基因表达谱分析

罕见疾病遗传学

Characterization of the underlying genetic defects in patients with a rare and peculiar phenotype is challenging. Here we have utilized whole genome expression profiling, and identified a homozygous g

NIAID Data Ecosystem50

Homo sapiens Exome. Homo sapiens

罕见疾病遗传学

特发性肺骨化病

Idiopathic pulmonary ossification is a rare disease featured by bone tissue formation in the lung which can be classified into idiopathic pulmonary ossification (IPO) and secondary pulmonary ossificat

NIAID Data Ecosystem30

Var-MD

资源简介：

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