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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Detalles Bibliográficos
Autores principales: Krishnan, Vandhana, Utiramerur, Sowmithri, Ng, Zena, Datta, Somalee, Snyder, Michael P., Ashley, Euan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903625/
https://www.ncbi.nlm.nih.gov/pubmed/33627090
http://dx.doi.org/10.1186/s12859-020-03934-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903625/
https://www.ncbi.nlm.nih.gov/pubmed/33627090
http://dx.doi.org/10.1186/s12859-020-03934-3

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