LYRUS: a machine learning model for predicting the pathogenicity of missense variants.
Lai J, Yang J, Gamsiz Uzun ED, Rubenstein BM, Sarkar IN.
Lai J, et al. Among authors: sarkar in.
Bioinform Adv. 2021 Dec 25;2(1):vbab045. doi: 10.1093/bioadv/vbab045. eCollection 2022.
Bioinform Adv. 2021.
PMID: 35036922
Free PMC article.
SUMMARY: Single amino acid variations (SAVs) are a primary contributor to variations in the human genome. Identifying pathogenic SAVs can provide insights to the genetic architecture of complex diseases. Most approaches for predicting the functional effects or pathogenicit …
SUMMARY: Single amino acid variations (SAVs) are a primary contributor to variations in the human genome. Identifying pathogenic SAVs …