Skip to content
Archive of entries posted on February 2017

PEDIA’s Machine Learning Challenge

We used 155 cases with a molecularly confirmed diagnosis of a monogenic disease and annotated the following five scores for every gene with a rare variant in the exome: gestalt-score, feature-score, pheno-score, boqa-score, cadd-score, The gestalt score is based on image analysis from Face2Gene. Feature-, pheno- and boqa- scores are based on a deep phenotypic […]