An open resource for accurately benchmarking small variant and reference calls

Benchmark small variant calls are required for developing, optimizing and assessing the performance of sequencing and bioinformatics methods. Here, as part of the Genome in a Bottle Consortium (GIAB), we apply a reproducible, cloud-based pipeline to integrate multiple short and linked read sequencin...

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Dades bibliogràfiques
Publicat a:Nat Biotechnol
Autors principals: Zook, Justin M., McDaniel, Jennifer, Olson, Nathan D., Wagner, Justin, Parikh, Hemang, Heaton, Haynes, Irvine, Sean A., Trigg, Len, Truty, Rebecca, McLean, Cory Y., De La Vega, Francisco M., Xiao, Chunlin, Sherry, Stephen, Salit, Marc
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6500473/
https://ncbi.nlm.nih.gov/pubmed/30936564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41587-019-0074-6
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