
NCBI . NLM . NIH . GOV {
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Title[redir]:
A genomic mutational constraint map using variation in 76,156 human genomes - PMC
Description:
The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders1–4, but attempts to assess constraint for non-protein-coding regions have ...
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Keywords {🔍}
doi, gnocchi, noncoding, variants, university, constraint, google, scholar, pubmed, usa, pmc, article, medicine, free, human, department, genes, regions, genome, fig, variation, genomic, gene, institute, constrained, data, school, center, score, medical, mutation, functional, windows, hospital, research, features, elements, extended, health, nature, variant, regulatory, genetics, set, gwas, enhancers, genomes, genet, metrics, methods,
Topics {✒️}
𝑂 𝑏 𝑠 jp/5/datafiles/reprocessed/hg38_latest/extra/enhancer/ 𝐸 𝑥 𝑝 supplementary datasets nihms2037379-supplement-supplementary_datasets high double-strand-break incidence functionally informed fine-mapping recent fine-mapping study84 tissue/cell-type specific information basic helix-loop-helix 𝜒 2 = pmc beta search candidate cis-regulatory element complex trait fine-mapping genome-wide research data weighted genome-wide average copy-number variations involving plasminogen activator inhibitor-1 𝑝 𝑖 de novo mutation de novo mutations genome-wide constraint map previous fine-mapping results single nucleotide/indel variants gwas fine-mapping33 variants genome aggregation database gwas fine-mapping https predict enhancer-gene links105 genome-wide association studies altered cis-regulatory elements health thl-national institute harbor-ucla medical center previous ukbb fine-mapping candidate cis-regulatory elements lcr=low-complexity region performed joint variant-calling tissue-specific enhancer constraint tissue-specific gene expression sequence-level genetic map context-specific mutation rates overlapping protein-coding genes51 context-dependent mutational models dosage-dependent ihh misexpression genome-wide predictive scores effect sizes genome-wide leverage population-scale exome [google scholar] 72 [google scholar] 101 high-confidence causal variants genome-wide association loci tissue-specific gene function
Questions {❓}
- Pott S & Lieb JD What are super-enhancers?
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