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

vSampler: fast and annotation-based matched variant sampling tool.

Bioinformatics (Oxford, England) - 27 Jul 2021

Huang Dandan, Wang Zhao, Zhou Yao, Liang Qian, Sham Pak Chung, Yao Hongcheng, Li Mulin Jun

Abstract excerpt

SUMMARY: Sampling of control variants having matched properties with input variants is widely used in enrichment analysis of genome-wide association studies/quantitative trait loci and negative data construction for pathogenic/regulatory variant prediction methods. Spurious enrichment results because of confounding factors, such as minor allele frequency and linkage disequilibrium pattern, can be avoided by...

Read the complete abstract on PubMed

Topics

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

Share to Genome-Wide Association Study
Share to Linkage Disequilibrium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Quantitative Trait Loci

Share to Software

Source

Identifiers

PMID: 33270826
DOI: 10.1093/bioinformatics/btaa883

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

vSampler: fast and annotation-based matched variant sampling tool.PMID 33270826Read ↗

Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic RegionsSemantic proximity Read ↗

SNPsnap: a Web-based tool for identification and annotation of matched SNPs.Semantic proximity Read ↗

GLANET: genomic loci annotation and enrichment tool.Semantic proximity Read ↗

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing dataSemantic proximity Read ↗

VAReporter: variant reporter for cancer research of massive parallel sequencing.Semantic proximity Read ↗

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data.Semantic proximity Read ↗

Ultrafast and scalable variant annotation and prioritization with big functional genomics data.Semantic proximity Read ↗

From GWAS Variant to Function: a Study of ~148,000 Variants for Blood Cell TraitsSemantic proximity Read ↗

GWASTools: an R/Bioconductor package for quality control and analysis of genome-wide association studies.Semantic proximity Read ↗

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.Semantic proximity Read ↗

Enriching targeted sequencing experiments for rare disease alleles.Semantic proximity Read ↗

SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.Semantic proximity Read ↗

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