Article

IMPROVE-DD: Integrating Multiple Phenotype Resources Optimises Variant Evaluation in genetically determined Developmental Disorders

2022-05-21

Abstract excerpt

<h4>Summary</h4> 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 Optimises Variant Evaluation in Developmental Disorders (IMPROVE-DD) by incorporating additional classes of data commonly available to clinicians a...

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Literature Corpus work: 2c337fca-559c-5bf6-a33a-c15d4fad8ada
DOI: 10.1101/2022.05.20.22275135

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