Molecular Quantitative Trait Locus Mapping In Human Endothelial Cells Identifies Regulatory SNPs Underlying Gene Expression and Complex Disease Traits
Identification of causal variants and mechanisms underlying complex disease traits in humans requires strategies to locate and fine-map functional regulatory variants in disease-relevant cell types. To discover functional regulatory variants in primary aortic endothelial cells (ECs) from humans, we collected genetic, transcriptomic, and four epigenomic phenotypes in a population of up to 150 human donors representing individuals of both sexes and three major ancestries. We found thousands of EC...
Provenance — who produced it, who reused it
Linked to 4 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.
- Identification of LZTFL1 as a candidate effector gene at a COVID... 2021 · 186 cites
3 further papers cite this accession but reuse could not be confirmed.
Deep data QC
metadata only · no data-level QC for this typeStandardized, field-standard QC computed by touching the data — every metric states how it was obtained
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently