Gene expression signatures from whole blood predict amyotrophic lateral sclerosis case status and survival.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disease with a median survival of only 2 to 4 years from diagnosis. Improved tools are needed to shorten diagnostic delays and improve prognostication to benefit clinical care. Herein, we profiled whole blood gene expression by RNA sequencing in a large cohort of ALS participants (n = 422) versus controls (n = 272). Several machine learning classifiers trained on our detailed gene expression dataset accurately predicted case-control status, including in a fully independent external test cohort, achieving an area under the receiver operating characteristic curve of 0.894 with the best performing model. Integrating gene expression features with clinical variables improved our ability to discriminate ALS cases into shor

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC12579231 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature