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Article

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

BMC bioinformatics - 24 Feb 2021

Krishnan Vandhana, Utiramerur Sowmithri, Ng Zena, Datta Somalee, Snyder Michael P, Ashley Euan A

Abstract excerpt

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 methods is not uniform across the different genomic regions of interest and variant types. Several benchmarking...

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PMID: 33627090
DOI: 10.1186/s12859-020-03934-3
PMCID: PMC7903625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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