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SVFX: a machine learning framework to quantify the pathogenicity of structural variants
There is a lack of approaches for identifying pathogenic genomic structural variants (SVs) although they play a crucial role in many diseases. We present a mechanism-agnostic machine learning-based workflow, called SVFX, to assign pathogenicity scores to somatic and germline SVs. In particular, we g...
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| Publicado no: | Genome Biol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7650198/ https://ncbi.nlm.nih.gov/pubmed/33168059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-020-02178-x |
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