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

Topics Community

Article

HGVA: the Human Genome Variation Archive.

Nucleic acids research - 3 Jul 2017

Lopez Javier, Coll Jacobo, Haimel Matthias, Kandasamy Swaathi, Tarraga Joaquin, Furio-Tari Pedro, Bari Wasim, Bleda Marta, Rueda Antonio, Gräf Stefan, Rendon Augusto, Dopazo Joaquin, Medina Ignacio

Abstract excerpt

High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation...

Topics

Genetic Variation
Genome, Human
Humans
Internet
Software
User-Computer Interface

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28535294
DOI: 10.1093/nar/gkx445
PMCID: PMC5570161

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HGVA: the Human Genome Variation Archive.PMID 28535294Read ↗

The International Genome Sample Resource (IGSR) collection of open human genomic variation resources.Semantic proximity Read ↗

A harmonized public resource of deeply sequenced diverse human genomes.Semantic proximity Read ↗

A harmonized public resource of deeply sequenced diverse human genomesSemantic proximity Read ↗

The variant catalogue pipeline: A workflow to generate a background variant library from Whole Genome SequencesSemantic proximity Read ↗

Human variation database: an open-source database template for genomic discovery.Semantic proximity Read ↗

Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.Semantic proximity Read ↗

HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources.Semantic proximity Read ↗

The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data.Semantic proximity Read ↗

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.Semantic proximity Read ↗

Introduction to 1000 Genomes Project and IGSR data resourcesSemantic proximity Read ↗

Human variation databases.Semantic proximity Read ↗

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.Semantic proximity Read ↗

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