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Investigating the dark-side of the genome: a barrier to human disease variant discovery?
The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a ra...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357705/ https://www.ncbi.nlm.nih.gov/pubmed/37468985 http://dx.doi.org/10.1186/s40659-023-00455-0 |