Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.

ABSTRACT: Within recent years, there has been a growing number of genes associated with amyotrophic lateral sclerosis (ALS), resulting in an increasing number of novel variants, particularly missense variants, many of which are of unknown clinical significance. Here, we leverage the sequencing efforts of the ALS Knowledge Portal (3864 individuals with ALS and 7839 controls) and Project MinE ALS Sequencing Consortium (4366 individuals with ALS and 1832 controls) to perform proteomic and transcriptomic characterization of missense variants in 24 ALS-associated genes. The two sequencing datasets were interrogated for missense variants in the 24 genes, and variants were annotated with gnomAD minor allele frequencies, ClinVar pathogenicity classifications, protein sequence features including Uniprot func

SUBMITTER: Dilliott AA 

PROVIDER: S-EPMC10629772 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature