SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
Paul HagerHans-Werner MewesMeino RohlfsChristoph KleinTim JeskePublished in: PLoS Comput. Biol. (2020)
Keyphrases
- clinically relevant
- disease diagnosis
- pairwise
- high accuracy
- genetic algorithm
- data sets
- clinical diagnosis
- cardiovascular disease
- neurodegenerative diseases
- fault detection
- medical diagnosis
- highly accurate
- computationally efficient
- automatic diagnosis
- model based diagnosis
- single nucleotide polymorphisms
- diagnostic reasoning
- fault diagnosis
- copy number
- information systems