Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

Roos van der DonkSandra JansenJanneke H M Schuurs-HoeijmakersDavid A KoolenLia C M J GoltsteinAlexander HoischenHan G BrunnerPatrick KemmerenChristoffer NellåkerLisenka E L M VissersBert B A de VriesJayne Y Hehir-Kwa

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2018)

Our results show that analysis of facial photos can be used to detect previously unknown facial gestalts for novel ID syndromes, which will facilitate both clinical and molecular diagnosis of rare and novel syndromes.

Keyphrases

deep learning
machine learning
soft tissue
high throughput
copy number
gene expression
single molecule