Article
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
HGG advances - 12 Jan 2023
Aitken Stuart, Firth Helen V, Wright Caroline F, Hurles Matthew E, FitzPatrick David R, Semple Colin A
Abstract excerpt
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 Developmental Disorders (IMPROVE-DD) by incorporating additional classes of data commonly available to clinicians and recorded in...
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