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Abstract

January to March 2021 | Vol. 14 | Issue 1 | Page No 21-22
Next-Generation Phenotyping in the Next-Generation Sequencing Era
Dr Somya Srivastava
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: somyasrivastava18@gmail.com
 
Abstract
The authors used a novel algorithm by combining two computer algorithms: the Clinical Face Phenotype Space (CFPS) for facial dysmorphism and OpenFace for facial recognition. Using them, they detected the facial gestalt in three novel intellectual disability syndromes involving the genes PACS1, PPM1D, and PHIP. Significant facial similarity for all three syndromes was found. Hence information contained in the face can be used to delineate genetic entities including in novel ID syndromes with no previously known knowledge of a facial phenotype.
 
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