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

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

Abstract 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...

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Bibliographic Details
Main Authors: Vandhana Krishnan, Sowmithri Utiramerur, Zena Ng, Somalee Datta, Michael P. Snyder, Euan A. Ashley
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Bioinformatics
Subjects:
Benchmarking
Workflow
GIAB reference genomes
Precision
Recall
Truth set
Online Access:https://doi.org/10.1186/s12859-020-03934-3

Internet

https://doi.org/10.1186/s12859-020-03934-3

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