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Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays

BACKGROUND: Benchmarking the performance of complex analytical pipelines is an essential part of developing Lab Developed Tests (LDT). Reference samples and benchmark calls published by Genome in a Bottle (GIAB) consortium have enabled the evaluation of analytical methods. The performance of such me...

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Bibliografiske detaljer
Udgivet i:BMC Bioinformatics
Main Authors: Krishnan, Vandhana, Utiramerur, Sowmithri, Ng, Zena, Datta, Somalee, Snyder, Michael P., Ashley, Euan A.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7903625/
https://ncbi.nlm.nih.gov/pubmed/33627090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-020-03934-3
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