Cancer3.AI › AI in Oncology › Datasets › Genome in a Bottle (GIAB)
Open download Materiał referencyjny NIST; zgoda dawców z PGP na redystrybucję komercyjną

Genome in a Bottle (GIAB)

A public benchmark resource run by NIST within a consortium of public bodies, companies and academic centres. It contains seven thoroughly characterised human genomes with benchmark variant sets and high-confidence regions, and is used to measure how accurately a bioinformatics pipeline calls variants. It is not an oncology dataset and not an imaging dataset — it is a reference point for genome readout itself. The consortium works with the GA4GH Benchmarking Team on comparison standards. Distribution: the NIST reference material shop, the Coriell Institute and the Personal Genome Project.

Dataset site { } JSON

At a glance

ProviderNational Institute of Standards and Technology (NIST), USA
AccessOpen download
LicenceMateriał referencyjny NIST; zgoda dawców z PGP na redystrybucję komercyjną
patients7
genomy referencyjne7
Size notesSeven characterised genomes: the pilot genome NA12878/HG001 from the HapMap collection and two Personal Genome Project trios — Ashkenazi Jewish (HG002, HG003, HG004) and Han Chinese (HG005, HG006, HG007).
FormatsFASTQ, BAM, VCF
Data typeGenomics (DNA)
Task
Cancer

Labels and annotations

Benchmark variant call sets together with high-confidence regions, derived by the consortium from multiple sequencing technologies. These regions define where the benchmark may be treated as authoritative; outside them a comparison is not meaningful.

Details

Not yet documented on this card.

Models trained or evaluated on it

Sources

  1. NIST — Genome in a Bottle Consortium (strona programu)

This page is educational — it is not medical advice and does not replace consultation with an oncologist. Diagnostic and treatment decisions are made solely by specialist physicians.