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

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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Bibliographic Details
Main Authors: Ashley, E.A (Author), Datta, S. (Author), Krishnan, V. (Author), Ng, Z. (Author), Snyder, M.P (Author), Utiramerur, S. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Analytical method
Analytical performance
benchmarking
Benchmarking
Benchmarking methods
Bottles
Cell culture
Centers for disease controls
Clinical diagnostics
Diagnosis
Disease control
Docker
exome
Exome
germ cell
Germ Cells
Germline variants
GIAB reference genomes
high throughput sequencing
High-Throughput Nucleotide Sequencing
Lab developed tests
Laboratories
Performance characteristics
Pipelines
Polymorphism, Single Nucleotide
Precision
Recall
Regions of interest
single nucleotide polymorphism
software
Software
Software libraries
Truth set
workflow
Workflow
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