When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.

Lina Basel-SalmonNoa Ruhrman-ShaharNaama OrensteinYael GoldbergClaudia Gonzaga-JaureguiAlan R ShuldinerRivka Sukenik-HalevyIdit MayaNurit MagalOfir HagariNoy AzulayGabriel Arie LidzbarskyLily Bazak

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Detailed description of phenotypes in family members including differences in clinical presentations, even if subtle, are important in exome interpretation and should be communicated to the variant interpretation team.

Keyphrases

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palliative care
electronic health record
big data
quality improvement
artificial intelligence