Article

Organ-specific prioritization and annotation of non-coding regulatory variants in the human genome

2023-09-08

Abstract excerpt

Identifying non-coding regulatory variants in the human genome remains a challenging task in genomics. Recently, we released the second version of our leading regulatory variant database, RegulomeDB. Building upon this comprehensive database, we developed a novel machine-learning architecture, TLand, which utilizes RegulomeDB-derived features to predict regulatory variants at the cell- or organ-specific level. In...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 55573f21-b4a8-559c-a12b-bf725fd5cc85
DOI: 10.1101/2023.09.07.556700

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Organ-specific prioritization and annotation of non-coding regulatory variants in the human genomeDOI 10.1101/2023.09.07.556700Read

Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genomeSemantic proximity Read

RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants.Semantic proximity Read

RegVar: Tissue-specific Prioritization of Noncoding Regulatory VariantsSemantic proximity Read

Whole genome base-wise aggregation and functional prediction for human non-coding regulatory variantsSemantic proximity Read

Annotating and prioritizing human non-coding variants with RegulomeDBSemantic proximity Read

Prioritizing and characterizing functionally relevant genes across human tissuesSemantic proximity Read

xQTLatlas: a comprehensive resource for human cellular-resolution multi-omics genetic regulatory landscape.Semantic proximity Read

mV2G: a multiomic atlas for tissue-specific variant-to-gene prioritizationSemantic proximity Read

SNPnotes: high-throughput tissue-specific functional annotation of single nucleotide variantsSemantic proximity Read

A consensus variant-to-function score to functionally prioritize variants for diseaseSemantic proximity Read

A machine-learning framework to characterize functional disease architectures and prioritize disease variantsSemantic proximity Read

Enhancing portability of trans-ancestral polygenic risk scores through tissue-specific functional genomic data integration.Semantic proximity Read