Article
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Genes - 24 Sept 2020
Lattante Serena, Marangi Giuseppe, Doronzio Paolo Niccolò, Conte Amelia, Bisogni Giulia, Zollino Marcella, Sabatelli Mario
Abstract excerpt
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 Medical Genetics and Genomics (ACMG) provided guidelines to help molecular geneticists and pathologists to interpret...
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