PEDIA: prioritization of exome data by image analysis
Abstract
Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort...
Paper Details
Title
PEDIA: prioritization of exome data by image analysis
Published Date
Dec 1, 2019
Journal
Volume
21
Issue
12
Pages
2807 - 2814
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