Article

Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart

2025-02-19

Abstract excerpt

Whole genome sequencing has identified over a billion non-coding variants in humans, while GWAS has revealed the non-coding genome as a significant contributor to disease. However, prioritizing causal common and rare non-coding variants in human disease, and understanding how selective pressures have shaped the non-coding genome, remains a significant challenge. Here, we predicted the effects of 15 million variant...

Topics

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

Identifiers and source

Literature Corpus work: 2d4f2f29-e45f-5125-a7bd-359477c7158b
DOI: 10.1101/2025.02.18.638922

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heartDOI 10.1101/2025.02.18.638922Read

Decoding common and rare noncoding variant effects across cellular and developmental contexts.Semantic proximity Read

Non-coding Regulatory Variants in ASD (Autism Spectrum Disorders) Disrupt CTCF Domains and Shape Cell-Type–Specific Neurodevelopmental Landscapes Revealed by Single-Cell Analyses and Cortical OrganoidsSemantic proximity Read

Whole-genome deep learning analysis reveals causal role of noncoding mutations in autismSemantic proximity Read

Dissecting Autism Genetic Risk Using Single-cell RNA-seq DataSemantic proximity Read

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.Semantic proximity Read

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic dataSemantic proximity Read

Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder.Semantic proximity Read

Regulatory plasticity of the human genomeSemantic proximity Read

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorderSemantic proximity Read

TiSAn: Estimating Tissue Specific Effects of Coding and Noncoding VariantsSemantic proximity Read

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.Semantic proximity Read

Massively parallel characterization and predictive modelling of neuronal regulatory variationSemantic proximity Read