Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease Clinical Validity framework in our interpretation and report...

Descripción completa

Detalles Bibliográficos
Autores principales: Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Short Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932986/
https://www.ncbi.nlm.nih.gov/pubmed/36819666
http://dx.doi.org/10.1016/j.xgen.2023.100258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932986/
https://www.ncbi.nlm.nih.gov/pubmed/36819666
http://dx.doi.org/10.1016/j.xgen.2023.100258

Ejemplares similares