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Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset o...

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Détails bibliographiques
Auteurs principaux: Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3978951/
https://ncbi.nlm.nih.gov/pubmed/23902830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm473
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