IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

Summary: Diagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that Integrating Multiple Phenotype Resources Optimizes Variant Evaluation in Develo...

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Bibliographic Details
Main Authors: Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:HGG Advances
Subjects:
human phenotype ontology
phenotype
genotype
developmental disease
growth
developmental milestones
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247722000793

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http://www.sciencedirect.com/science/article/pii/S2666247722000793

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