LYRUS: a machine learning model for predicting the pathogenicity of missense variants

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 pathogenicity of SAVs rely on either se...

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Detalles Bibliográficos
Autores principales: Lai, Jiaying, Yang, Jordan, Gamsiz Uzun, Ece D, Rubenstein, Brenda M, Sarkar, Indra Neil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8754197/
https://www.ncbi.nlm.nih.gov/pubmed/35036922
http://dx.doi.org/10.1093/bioadv/vbab045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8754197/
https://www.ncbi.nlm.nih.gov/pubmed/35036922
http://dx.doi.org/10.1093/bioadv/vbab045

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