svclassify: a method to establish benchmark structural variant calls

BACKGROUND: The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark small variant calls for the pilot National Institute of Standards and Technology (NIST) Reference Material (NA12878) have been d...

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Detalles Bibliográficos
Autores principales: Parikh, Hemang, Mohiyuddin, Marghoob, Lam, Hugo Y. K., Iyer, Hariharan, Chen, Desu, Pratt, Mark, Bartha, Gabor, Spies, Noah, Losert, Wolfgang, Zook, Justin M., Salit, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715349/
https://www.ncbi.nlm.nih.gov/pubmed/26772178
http://dx.doi.org/10.1186/s12864-016-2366-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715349/
https://www.ncbi.nlm.nih.gov/pubmed/26772178
http://dx.doi.org/10.1186/s12864-016-2366-2

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