Ontology highlight
ABSTRACT:
SUBMITTER: Lattante S
PROVIDER: S-EPMC7600768 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Lattante Serena S Marangi Giuseppe G Doronzio Paolo Niccolò PN Conte Amelia A Bisogni Giulia G Zollino Marcella M Sabatelli Mario M
Genes 20200924 10
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 variants found in laboratory testing. We assessed the application of the ACMG criteri ...[more]