Article

PEDIA: Prioritization of Exome Data by Image Analysis

2018-11-21

Abstract excerpt

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 th...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: bbf45178-ad69-567c-8ac8-9fa9c263b77a
DOI: 10.1101/473306

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

PEDIA: Prioritization of Exome Data by Image AnalysisDOI 10.1101/473306Read

Diagnostically relevant facial gestalt information from ordinary photos.Semantic proximity Read

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Semantic proximity Read

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.Semantic proximity Read

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.Semantic proximity Read

Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.Semantic proximity Read

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesSemantic proximity Read

PhenoScore: AI-based phenomics to quantify rare disease and genetic variationSemantic proximity Read

Computational facial analysis for rare Mendelian disorders.Semantic proximity Read

[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].Semantic proximity Read

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptorsSemantic proximity Read

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.Semantic proximity Read