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

Isomorphic semantic mapping of variant call format (VCF2RDF).

Bioinformatics (Oxford, England) - 15 Feb 2017

Penha Emanuel Diego S, Iriabho Egiebade, Dussaq Alex, de Oliveira Diana Magalhães, Almeida Jonas S

Abstract excerpt

Summary: The move of computational genomics workflows to Cloud Computing platforms is associated with a new level of integration and interoperability that challenges existing data representation formats. The Variant Calling Format (VCF) is in a particularly sensitive position in that regard, with both clinical and consumer-facing analysis tools relying on this self-contained description of genomic variation in...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Variation
Share to Genome
Share to Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Information Storage and Retrieval

Share to Semantics

Share to Sequence Analysis, DNA

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 27797761
DOI: 10.1093/bioinformatics/btw652
PMCID: PMC6041975

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

Isomorphic semantic mapping of variant call format (VCF2RDF).PMID 27797761Read ↗

Analysis-ready VCF at Biobank scale using ZarrSemantic proximity Read ↗

Analysis-ready VCF at Biobank scale using Zarr.Semantic proximity Read ↗

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular VariationSemantic proximity Read ↗

Variant representation in RDFSemantic 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 ↗

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 ↗

Recommendations for the formatting of Variant Call Format (VCF) files to make plant genotyping data FAIR.Semantic proximity Read ↗

OpenEHR modeling for genomics in clinical practiceSemantic proximity Read ↗

The variant call format and VCFtools.Semantic proximity Read ↗

VarioML framework for comprehensive variation data representation and exchange.Semantic proximity Read ↗

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

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