MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

The diffusion of next-generation sequencing technologies has revolutionized research and diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing (WES). However, one of the main issues hampering achievement of a diagnosis via WES analyses is the extended list of variant...

Descripción completa

Detalles Bibliográficos
Autores principales: Chennen, Kirsley, Weber, Thomas, Lornage, Xavière, Kress, Arnaud, Böhm, Johann, Thompson, Julie, Laporte, Jocelyn, Poch, Olivier
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/PMC7394404/
https://www.ncbi.nlm.nih.gov/pubmed/32735577
http://dx.doi.org/10.1371/journal.pone.0236962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394404/
https://www.ncbi.nlm.nih.gov/pubmed/32735577
http://dx.doi.org/10.1371/journal.pone.0236962

Ejemplares similares