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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500473/
https://www.ncbi.nlm.nih.gov/pubmed/30936564
http://dx.doi.org/10.1038/s41587-019-0074-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500473/
https://www.ncbi.nlm.nih.gov/pubmed/30936564
http://dx.doi.org/10.1038/s41587-019-0074-6

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