John O

Oct 3, 2024 | dx.doi.org | Brendan Hall |Michael Keiser |Padmanabha Das |John O

Journal of Chemical Information and ModelingCite this: J. Chem. Inf. Model. 2024, XXXX, XXXClick to copy citationCitation copied!. This publication is licensed under CC-BY-NC-ND 4.0 . You are free to share (copy and redistribute) this article in any medium or format within the parameters below:Creative Commons (CC): This is a Creative Commons license. Attribution (BY): Credit must be given to the creator. Non-Commercial (NC): Only non-commercial uses of the work are permitted.

Sep 5, 2024 | bmcbioinformatics.biomedcentral.com | John O

Each specific variant in a gene is either pathogenic or benign for the disease associated with the gene. Each missense variant is assumed to be either pathogenic or benign and thus contain one bit of pathogenicity information. Other variants, such as synonymous variants, may also alter gene function, and truncating variants may be assumed to cause loss of function.