The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders.

Avi FellnerNoa Ruhrman-ShaharNaama OrensteinGabriel LidzbarskyAlan R ShuldinerClaudia Gonzaga-JaureguiHadar Brown-ShalevOfir Hagari-BecharLily BazakLina Basel-Salmon

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

This study demonstrates that, in most cases, phenotype-based search approaches using public online databases is ineffective in providing a probable diagnosis for Mendelian conditions. Genotype-first approach through molecular-guided diagnostics with backward phenotyping may be a more appropriate approach for these disorders, unless a specific diagnosis is considered a priori based on highly unique phenotypic features or a specific facial gestalt.

Keyphrases

healthcare
social media
health information
mental health
big data
high throughput
emergency department
adverse drug