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Personalised analytics for rare disease diagnostics
Whole genome and exome sequencing is a standard tool for the diagnosis of patients suffering from rare and other genetic disorders. The interpretation of the tens of thousands of variants returned from such tests remains a major challenge. Here we focus on the problem of prioritising variants with r...
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| Publicado no: | Nat Commun |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6872807/ https://ncbi.nlm.nih.gov/pubmed/31754101 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-13345-5 |
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