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Single-cell eQTL mapping identifies cell type specific genetic control of autoimmune disease [Genotype_data]
- Authors
- Yazar, SeyhanPowell, Joseph E.Hewitt, Alex W.
- Description
Summary from GEO: "The human immune system displays remarkable variation between individuals, leading to differences in susceptibility to autoimmune disease. We present single cell RNA sequence data from 1,267,768 peripheral blood mononuclear cells from 982 healthy human subjects. For 14 cell types, we identified 26,597 independent cis-expression quantitative trait loci (eQTLs) and 990 trans-eQTL,...
- Subject
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GenotypeLeukocytes, MononuclearMendelian Randomization AnalysisRNA, MessengerSingle-Cell Gene Expression Analysis
- Access Rights
- Free to All
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EGAD00010000266
- Authors
- Karniely, Marion
- Description
Description from EGA: "Metabric breast cancer samples (Genotype raw data)" Part of the METABRIC data access committee study, accession number EGAC00001000484, as well as the "METABRIC" study, accession number EGAS00000000098
- Subject
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Breast NeoplasmsGene Expression ProfilingGenotype
- Access Rights
- Application Required
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vcf2maf
- Authors
- Kandoth, CyriacGao, JianjiongWang, QingguoMattioni, Michele4 more author(s)...
- Description
Description from GitHub: "To convert a VCF into a MAF, each variant must be mapped to only one of all possible gene transcripts/isoforms that it might affect. But even within a single isoform, a Missense_Mutation close enough to a Splice_Site, can be labeled as either in MAF format, but not as both. This selection of a single effect per variant, is often subjective. And that's what this project...
- Subject
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AllelesGenotypeHigh-Throughput Nucleotide SequencingProtein IsoformsTranscription, Genetic
- Access Rights
- Free to All