A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

We developed a rules‐based scoring system to classify DNA variants into five categories including pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign. Over 16,500 pathogenicity assessments on 11,894 variants from 338 genes were analyzed for pathogenicity...

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Detalles Bibliográficos
Autores principales: Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller‐Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737317/
https://www.ncbi.nlm.nih.gov/pubmed/26467025
http://dx.doi.org/10.1002/humu.22918

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