Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Briefings in bioinformatics - 23 May 2024

Kim Yujin, Jeong Minwoo, Koh In Gyeong, Kim Chanhee, Lee Hyeji, Kim Jae Hyun, Yurko Ronald, Kim Il Bin, Park Jeongbin, Werling Donna M, Sanders Stephan J, An Joon-Yong

Abstract excerpt

Variants in cis-regulatory elements link the noncoding genome to human pathology; however, detailed analytic tools for understanding the association between cell-level brain pathology and noncoding variants are lacking. CWAS-Plus, adapted from a Python package for category-wide association testing (CWAS), enhances noncoding variant analysis by integrating both whole-genome sequencing (WGS) and user-provided...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alzheimer Disease
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatin

Share to Genetic Variation

Share to Genome, Human

Share to Genome-Wide Association Study

Share to Software

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 38966948
DOI: 10.1093/bib/bbae323
PMCID: PMC11224609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.PMID 38966948Read ↗

CWAS-Plus: Estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional dataSemantic proximity Read ↗

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elementsSemantic proximity Read ↗

3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database.Semantic proximity Read ↗

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.Semantic proximity Read ↗

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Semantic proximity Read ↗

MOCHA: advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human disease cohortsSemantic proximity Read ↗

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

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

Identifying non-coding variant effects at scale via machine learning models of cis-regulatory reporter assaysSemantic proximity Read ↗

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read ↗

Single-cell spatial map of cis-regulatory elements for disease-related genes in the macaque cortex.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.