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Gene Set Enrichment Analysis (GSEA) of protein VES calculated on ClinVar/COSMIC/common/rare variant sets.

NIAID Data Ecosystem2026-03-12 收录

数据链接：

https://figshare.com/articles/dataset/Gene_Set_Enrichment_Analysis_GSEA_of_protein_VES_calculated_on_ClinVar_COSMIC_common_rare_variant_sets_/14508918 数据链接链接失效反馈

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资源简介：

(Data underlying Figs 4 and 6A–6D and S5). (XLSX)

应用场景：

创建时间：

2021-04-28

罕见变异分析

遗传学

Various analytical approaches have been suggested for the characterization of rare variants. One main approach is to collapse the genetic information of rare variants in a region and to construct an o

DataCite Commons2020-09-02 更新70

Performance of Genotype Imputation for Rare Variants Identified in Exons and Flanking Regions of Genes

基因型填补

罕见变异分析

Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not

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Second hit rare genetic variants in families with seemingly GBA gene associated ParkinsonÃ¢Â€Â™s disease

帕金森病风险

罕见变异分析

In this study, we explored the possibility that rare variation in the genetic background may be an additional risk factor for Parkinson's Disease (PD) in families segregating pathogenic GBA gene varia

NIAID Data Ecosystem50

Additional file 2: of MARV: a tool for genome-wide multi-phenotype analysis of rare variants

基因组学

罕见变异分析

marv_chr6-10.result. Original results files outputted from MARV from the case study using NFBC1966 data. (RESULT 12614Â kb)

NIAID Data Ecosystem60

New rare coding or splice site variants associated with hematological traits.

血液性状遗传关联

罕见变异分析

Chromosome and genomic coordinates are on build hg19 of the human genome. Allele frequencies and directions of effect are for allele A2. Effect sizes (BETA and SE) are in standard deviation units. Phe

NIAID Data Ecosystem50

Gene Set Enrichment Analysis (GSEA) of protein VES calculated on ClinVar/COSMIC/common/rare variant sets.

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