Article

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

2019-05-20

Abstract excerpt

Benchmarking the performance of complex analytical pipelines is an essential part of developing Laboratory Developed Assays (LDT). Reference samples and benchmark calls published by Genome in a Bottle (GIAB) Consortium have enabled the evaluation of analytical methods. However, the performance of such methods is not uniform across the different regions of the genome/exome and different variant types and lengths. H...

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Literature Corpus work: 39e99257-f205-5e49-bf20-94e0bf411d99
DOI: 10.1101/643163

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