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Diversity of Human Copy Number Variation and Multicopy Genes
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for du...
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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3020103/ https://ncbi.nlm.nih.gov/pubmed/21030649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1197005 |
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