PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

Analysis of scientific and clinical phenotypes reported in the experimental literature has been curated manually to build high-quality databases such as the Online Mendelian Inheritance in Man (OMIM). However, the identification and harmonization of phenotype descriptions struggles with the diversit...

Full description

Bibliographic Details
Main Authors: Collier, Nigel, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Oellrich, Anika, Rebholz-Schuhmann, Dietrich
Format: Online
Language:English
Published: Oxford University Press 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622021/