Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.

Saklatvala, Jake R

Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients. [electronic resource] - Human mutation 05 2018 - 643-652 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.23413 doi


Computer Simulation
Data Curation
Data Mining
Databases, Genetic
Disease--genetics
Genetic Predisposition to Disease
Humans
Logistic Models
Phenotype
Probability
Search Engine