ArticleeLife2019
Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis.
Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Article
- Dynamic changes in Lamin B1 and heterochromatin coincide with chromatin condensation during human erythropoiesis.Genome biology · 2026Article
- Coupling CRISPR scanning with targeted chromatin accessibility profiling using a double-stranded DNA deaminase.Nature methods · 2025Article
- Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes.Science (New York, N.Y.) · 2025Article
- Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes.bioRxiv : the preprint server for biology · 2024Article
- RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.Developmental cell · 2023Article
- Functional characterization of human genomic variation linked to polygenic diseases.Trends in genetics : TIG · 2023Review
- Article
- RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.medRxiv : the preprint server for health sciences · 2023Article
- Hacking hematopoiesis - emerging tools for examining variant effects.Disease models & mechanisms · 2023Article
- Understanding Regulatory Mechanisms of Brain Function and Disease through 3D Genome Organization.Genes · 2022Review
- From GWAS variant to function: A study of ∼148,000 variants for blood cell traits.HGG advances · 2022Article
- Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.PLoS genetics · 2021Article
- A unified model of human hemoglobin switching through single-cell genome editing.Nature communications · 2021Article
- In The Blood: Connecting Variant to Function In Human Hematopoiesis.Trends in genetics : TIG · 2020Review
- The genetics of human hematopoiesis and its disruption in disease.EMBO molecular medicine · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have identified thousands of variants associated with human diseases and traits. However, the majority of GWAS-implicated variants are in non-coding regions of the genome and require in depth follow-up to identify target genes and decipher biological mechanisms. Here, rather than focusing on causal variants, we have undertaken a pooled loss-of-function screen in primary hematopoietic cells to interrogate 389 candidate genes contained in 75 loci associated with red blood cell traits. Using this approach, we identify 77 genes at 38 GWAS loci, with most loci harboring 1-2 candidate genes. Importantly, the hit set was strongly enriched for genes validated through orthogonal genetic approaches. Genes identified by this approach are enriched in specific and relevant biological pathways, allowing regulators of human erythropoiesis and modifiers of blood diseases to be defined. More generally, this functional screen provides a paradigm for gene-centric follow up of GWAS for a variety of human diseases and traits.
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