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A synthetic-diploid benchmark for accurate variant calling evaluation

Constructed from the consensus of short-read variant callers, existing benchmark datasets for evaluating variant calling accuracy are biased toward easy regions accessible by known algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two human cell lines that are homo...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Nat Methods
Egile Nagusiak: Li, Heng, Bloom, Jonathan M, Farjoun, Yossi, Fleharty, Mark, Gauthier, Laura, Neale, Benjamin, MacArthur, Daniel
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2018
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341484/
https://ncbi.nlm.nih.gov/pubmed/30013044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41592-018-0054-7
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