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New insights into the pathogenicity of non-synonymous variants through multi-level analysis
Precise classification of non-synonymous single nucleotide variants (SNVs) is a fundamental goal of clinical genetics. Next-generation sequencing technology is effective for establishing the basis of genetic diseases. However, identification of variants that are causal for genetic diseases remains a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367327/ https://www.ncbi.nlm.nih.gov/pubmed/30733553 http://dx.doi.org/10.1038/s41598-018-38189-9 |