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scRNA

Summary Table

NAME CITATION YEAR
OneK1K Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, ...&, Powell JE. (2022) Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease Science, 376 (6589) eabf3041. doi:10.1126/science.abf3041. PMID 35389779 2022

OneK1K

  • NAME : OneK1K
  • URL : https://onek1k.org/
  • DESCRIPTION : The OneK1K cohort consists of single-cell RNA sequencing (scRNA-seq) data from 1.27 million peripheral blood mononuclear cells (PMBCs) collected from 982 donors. We developed a framework for the classification of individual cells, and by combining the scRNA-seq data with genotype data, we mapped the genetic effects on gene expression in each of 14 immune cell types and identified 26,597 independent cis–expression quantitative trait loci (eQTLs).
  • TITLE : Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease
  • DOI : 10.1126/science.abf3041
  • ABSTRACT : The human immune system displays substantial variation between individuals, leading to differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing (scRNA-seq) data from 1,267,758 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-eQTLs, with most showing cell type-specific effects on gene expression. We subsequently show how eQTLs have dynamic allelic effects in B cells that are transitioning from naïve to memory states and demonstrate how commonly segregating alleles lead to interindividual variation in immune function. Finally, using a Mendelian randomization approach, we identify the causal route by which 305 risk loci contribute to autoimmune disease at the cellular level. This work brings together genetic epidemiology with scRNA-seq to uncover drivers of interindividual variation in the immune system.
  • CITATION : Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, ...&, Powell JE. (2022) Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease Science, 376 (6589) eabf3041. doi:10.1126/science.abf3041. PMID 35389779
  • JOURNAL_INFO : Science ; Science ; 2022 ; 376 ; 6589 ; eabf3041
  • PUBMED_LINK : 35389779