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Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
PURPOSE: We aimed to demonstrate the detection of exonic deletions using target capture and deep sequencing data. METHODS: Sequence data from target gene capture followed by massively parallel sequencing were analyzed for the detection of exonic deletions using the normalized mean coverage of indivi...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4338802/ https://ncbi.nlm.nih.gov/pubmed/25032985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.80 |
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