Functional annotation of 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...
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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019-12-01
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| Serie: | Genomics & Informatics |
| Soggetti: | |
| Accesso online: | http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf |
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