LEAP: Using machine learning to support variant classification in a clinical setting

Advances in genome sequencing have led to a tremendous increase in the discovery of novel missense variants, but evidence for determining clinical significance can be limited or conflicting. Here, we present Learning from Evidence to Assess Pathogenicity (LEAP), a machine learning model that utilize...

Descripción completa

Detalles Bibliográficos
Autores principales: Lai, Carmen, Zimmer, Anjali D., O'Connor, Robert, Kim, Serra, Chan, Ray, van den Akker, Jeroen, Zhou, Alicia Y., Topper, Scott, Mishne, Gilad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Special Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317941/
https://www.ncbi.nlm.nih.gov/pubmed/32176384
http://dx.doi.org/10.1002/humu.24011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317941/
https://www.ncbi.nlm.nih.gov/pubmed/32176384
http://dx.doi.org/10.1002/humu.24011

Ejemplares similares