A Bayesian method to estimate variant-induced disease penetrance

A major challenge emerging in genomic medicine is how to assess best disease risk from rare or novel variants found in disease-related genes. The expanding volume of data generated by very large phenotyping efforts coupled to DNA sequence data presents an opportunity to reinterpret genetic liability...

Descripción completa

Detalles Bibliográficos
Autores principales: Kroncke, Brett M., Smith, Derek K., Zuo, Yi, Glazer, Andrew M., Roden, Dan M., Blume, Jeffrey D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347235/
https://www.ncbi.nlm.nih.gov/pubmed/32569262
http://dx.doi.org/10.1371/journal.pgen.1008862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347235/
https://www.ncbi.nlm.nih.gov/pubmed/32569262
http://dx.doi.org/10.1371/journal.pgen.1008862

Ejemplares similares