{"access":"open","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.","article":null,"cancer_slugs":[],"details":"","doi":null,"formats":["FASTQ","BAM","VCF"],"hf":null,"huggingface":null,"kind":null,"license":"Materia\u0142 referencyjny NIST; zgoda dawc\u00f3w z PGP na redystrybucj\u0119 komercyjn\u0105","modalities":["genomics"],"models":[{"name":"DeepVariant","note":"","role":"benchmark","slug":"deepvariant"}],"name":"Genome in a Bottle (GIAB)","page":"/ai-oncology/datasets/giab-genome-in-a-bottle","provider":"National Institute of Standards and Technology (NIST), USA","size":{"items":7,"notes_en":"Seven characterised genomes: the pilot genome NA12878/HG001 from the HapMap collection and two Personal Genome Project trios \u2014 Ashkenazi Jewish (HG002, HG003, HG004) and Han Chinese (HG005, HG006, HG007).","notes_pl":"Siedem scharakteryzowanych genom\u00f3w: genom pilota\u017cowy NA12878/HG001 z kolekcji HapMap oraz dwa trio z Personal Genome Project \u2014 aszkenazyjskie (HG002, HG003, HG004) i chi\u0144skie Han (HG005, HG006, HG007).","patients":7,"unit":"genomy referencyjne"},"slug":"giab-genome-in-a-bottle","sources":[{"label":"NIST \u2014 Genome in a Bottle Consortium (strona programu)","url":"https://www.nist.gov/programs-projects/genome-bottle"}],"summary":"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 \u2014 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.","tasks":[],"url":"https://www.nist.gov/programs-projects/genome-bottle","verified_at":null}