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

PURPOSE: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help...

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Publicado no:Genet Med
Main Authors: van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752476/
https://ncbi.nlm.nih.gov/pubmed/30568311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0404-y
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