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Whole exome sequencing reveals rare variants linked to congenital pouch colon
We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieve...
Enregistré dans:
| Publié dans: | Sci Rep |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group UK
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5923232/ https://ncbi.nlm.nih.gov/pubmed/29703930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-24967-y |
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