High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

The development of high-throughput sequencing technologies and screening of big patient cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification of a significant number of genetic variants, which are sometimes difficult to interpret. The American College of Me...

Descripción completa

Detalles Bibliográficos
Autores principales: Lattante, Serena, Marangi, Giuseppe, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Zollino, Marcella, Sabatelli, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600768/
https://www.ncbi.nlm.nih.gov/pubmed/32987860
http://dx.doi.org/10.3390/genes11101123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600768/
https://www.ncbi.nlm.nih.gov/pubmed/32987860
http://dx.doi.org/10.3390/genes11101123

Ejemplares similares