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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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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Santorsola, Mariangela, Calabrese, Claudia, Girolimetti, Giulia, Diroma, Maria Angela, Gasparre, Giuseppe, Attimonelli, Marcella
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
Fag:
Online adgang: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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