Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
Vandhana KrishnanSowmithri UtiramerurZena NgSomalee DattaMichael SnyderEuan A. AshleyPublished in: BMC Bioinform. (2021)
Keyphrases
- diagnostic imaging
- medical diagnostic
- disease diagnosis
- acute myocardial infarction
- clinical diagnosis
- clinically relevant
- computer aided diagnosis systems
- clinical setting
- differential diagnosis
- diagnostic process
- diagnostic tests
- data processing
- coronary artery disease
- expert systems
- traditional chinese medicine
- clinical decision support systems
- medical diagnosis
- web services
- patient data
- business processes
- decision making
- diagnostic reasoning
- clinical trials
- clinical data
- big data
- business process
- diagnostic tool
- information systems
- model based diagnosis
- biological data