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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021

Basel-Salmon Lina, Ruhrman-Shahar Noa, Orenstein Naama, Goldberg Yael, Gonzaga-Jauregui Claudia, Shuldiner Alan R, Sukenik-Halevy Rivka, Maya Idit, Magal Nurit, Hagari Ofir, Azulay Noy, Lidzbarsky Gabriel Arie, Bazak Lily

Abstract excerpt

PURPOSE: Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation. METHODS: Of 614 exomes, 209 were diagnostic and included in this study. Phenotypic information was gathered by the variant interpretation team from genetic counseling letters and images....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32801363
DOI: 10.1038/s41436-020-00938-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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