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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| 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 |