Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

Guidelines for variant interpretation include criteria for incorporating phenotype evidence, but this evidence is inconsistently applied. Systematic approaches to using phenotype evidence are needed. We developed a method for curating disease phenotypes as highly or moderately predictive of variant...

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Detalles Bibliográficos
Autores principales: Johnson, Britt, Ouyang, Karen, Frank, Lauren, Truty, Rebecca, Rojahn, Susan, Morales, Ana, Aradhya, Swaroop, Nykamp, Keith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544038/
https://www.ncbi.nlm.nih.gov/pubmed/35570716
http://dx.doi.org/10.1002/ajmg.a.62779

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