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Improving diagnostics of rare genetic diseases with NGS approaches
According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology o...
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| Publicado no: | J Community Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8141085/ https://ncbi.nlm.nih.gov/pubmed/33452619 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-020-00500-5 |
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