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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...

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Dades bibliogràfiques
Publicat a:Hum Genet
Autors principals: Santorsola, Mariangela, Calabrese, Claudia, Girolimetti, Giulia, Diroma, Maria Angela, Gasparre, Giuseppe, Attimonelli, Marcella
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698288/
https://ncbi.nlm.nih.gov/pubmed/26621530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1615-9
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