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Article

The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.

American journal of medical genetics. Part A - 1 Apr 2021

Marwaha Ashish, Chitayat David, Meyn M Stephen, Mendoza-Londono Roberto, Chad Lauren

Abstract excerpt

Computer-assisted pattern recognition platforms, such as Face2Gene® (F2G), can facilitate the diagnosis of children with rare genetic syndromes by comparing a patient's features to known genetic diagnoses. Our work designed, implemented, and evaluated an innovative model of care in clinical genetics in a heterogeneous and multicultural patient population that utilized this facial phenotyping software at the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33554457
DOI: 10.1002/ajmg.a.62092

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