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The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders
There are an estimated 6000–8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have...
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| Publicado no: | Genet Res (Camb) |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cambridge University Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6863629/ https://ncbi.nlm.nih.gov/pubmed/26365496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672315000166 |
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