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Mendelian Gene Discovery: Fast and Furious with No End in Sight
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000–13,000 MCs yet to be...
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| Publicat a: | Am J Hum Genet |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6731362/ https://ncbi.nlm.nih.gov/pubmed/31491408 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.07.011 |
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