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

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 D...

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Detalles Bibliográficos
Autores principales: Aitken, Stuart, Firth, Helen V., Wright, Caroline F., Hurles, Matthew E., FitzPatrick, David R., Semple, Colin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763511/
https://www.ncbi.nlm.nih.gov/pubmed/36561149
http://dx.doi.org/10.1016/j.xhgg.2022.100162

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