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  • Single-cell eQTL mapping identifies cell type specific genetic control of autoimmune disease [Genotype_data]

    Authors
    Yazar, Seyhan
    Powell, 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
    Genotype
    Leukocytes, Mononuclear
    Mendelian Randomization Analysis
    RNA, Messenger
    Single-Cell Gene Expression Analysis
    Access Rights
    Free to All
  • 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
    Breast Neoplasms
    Gene Expression Profiling
    Genotype
    Access Rights
    Application Required
  • vcf2maf

    Authors
    Kandoth, Cyriac
    Gao, Jianjiong
    Wang, Qingguo
    Mattioni, Michele
    4 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
    Alleles
    Genotype
    High-Throughput Nucleotide Sequencing
    Protein Isoforms
    Transcription, Genetic
    Access Rights
    Free to All