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Human copy number variants are enriched in regions of low mappability
Copy number variants (CNVs) are known to affect a large portion of the human genome and have been implicated in many diseases. Although whole-genome sequencing (WGS) can help identify CNVs, most analytical methods suffer from limited sensitivity and specificity, especially in regions of low mappabil...
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| Publicado no: | Nucleic Acids Res |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6101599/ https://ncbi.nlm.nih.gov/pubmed/30137632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky538 |
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