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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Nucleic acids research - 1 Sept 2010

Wang Kai, Li Mingyao, Hakonarson Hakon

Abstract excerpt

High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants. To fill these unmet needs, we developed the ANNOVAR tool to annotate single nucleotide varia...

Read the complete abstract on PubMed

Topics

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

Share to Genes
Share to Genetic Predisposition to Disease
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genomics

Share to High-Throughput Screening Assays

Share to Sequence Analysis, DNA

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 20601685
DOI: 10.1093/nar/gkq603
PMCID: PMC2938201

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20601685-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.PMID 20601685Read ↗

Application of Full Genome Analysis to Diagnose Rare Monogenic DisordersSemantic proximity Read ↗

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.Semantic proximity Read ↗

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.Semantic proximity Read ↗

Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation.Semantic proximity Read ↗

A practical guide for the functional annotation of genetic variations using SNPnexus.Semantic proximity Read ↗

wANNOVAR: annotating genetic variants for personal genomes via the web.Semantic proximity Read ↗

A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization.Semantic proximity Read ↗

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Semantic proximity Read ↗

<i>seqr</i> : a web-based analysis and collaboration tool for rare disease genomicsSemantic proximity Read ↗

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

TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVsSemantic proximity Read ↗

Building a genome analysis pipeline to predict disease risk and prevent disease.Semantic proximity Read ↗

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