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Interpreting de novo variation in human disease using denovolyzeR
Spontaneously arising (de novo) genetic variants are important in human disease, yet every individual carries many such variants, with a median of 1 de novo variant affecting the protein-coding portion of the genome. A recently described mutational model (Samocha et al., 2014) provides a powerful fr...
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| izdano v: | Curr Protoc Hum Genet |
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| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4606471/ https://ncbi.nlm.nih.gov/pubmed/26439716 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg0725s87 |
| Oznake: |
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