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

VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.

Briefings in bioinformatics - 1 Mar 2016

Hart Steven N, Duffy Patrick, Quest Daniel J, Hossain Asif, Meiners Mike A, Kocher Jean-Pierre

Abstract excerpt

Next-generation sequencing platforms are widely used to discover variants associated with disease. The processing of sequencing data involves read alignment, variant calling, variant annotation and variant filtering. The standard file format to hold variant calls is the variant call format (VCF) file. According to the format specifications, any arbitrary annotation can be added to the VCF file for downstream...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Database Management Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Polymorphism, Single Nucleotide

Share to Software

Share to User-Computer Interface

Source

Open in PubMed Open full text

Identifiers

PMID: 26210358
DOI: 10.1093/bib/bbv051
PMCID: PMC4793895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.PMID 26210358Read ↗

BrowseVCF: a web-based application and workflow to quickly prioritise disease-causative variants in VCF filesSemantic proximity Read ↗

VCF observer: a user-friendly software tool for preliminary VCF file analysis and comparison.Semantic proximity Read ↗

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Semantic proximity Read ↗

Vcflib and tools for processing the VCF variant call formatSemantic proximity Read ↗

Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files.Semantic proximity Read ↗

A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar.Semantic proximity Read ↗

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.Semantic proximity Read ↗

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

<i>Vcfanno</i> : fast, flexible annotation of genetic variantsSemantic proximity Read ↗

VCF-Explorer: filtering and analysing whole genome VCF files.Semantic proximity Read ↗

Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants.Semantic proximity Read ↗

VCF-kit: assorted utilities for the variant call format.Semantic proximity Read ↗

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