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Genome annotation for clinical genomic diagnostics: strengths and weaknesses
Abstract The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing. However, in a considerable number of patients, the genetic basis remains unclear. As clinicians begin to consider wh...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2017-05-01
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| Serie: | Genome Medicine |
| Accesso online: | http://link.springer.com/article/10.1186/s13073-017-0441-1 |
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