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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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| 出版年: | Hum Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2015
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| 主題: | |
| オンライン･アクセス: | 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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