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Functional annotation of de novo variants from healthy individuals
The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome sca...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Korea Genome Organization
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944041/ https://www.ncbi.nlm.nih.gov/pubmed/31896246 http://dx.doi.org/10.5808/GI.2019.17.4.e46 |