A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow...

Descripción completa

Detalles Bibliográficos
Autores principales: Santorsola, Mariangela, Calabrese, Claudia, Girolimetti, Giulia, Diroma, Maria Angela, Gasparre, Giuseppe, Attimonelli, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698288/
https://www.ncbi.nlm.nih.gov/pubmed/26621530
http://dx.doi.org/10.1007/s00439-015-1615-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698288/
https://www.ncbi.nlm.nih.gov/pubmed/26621530
http://dx.doi.org/10.1007/s00439-015-1615-9

Ejemplares similares