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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...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Mathur, Praveen, Medicherla, Krishna Mohan, Chaudhary, Spandan, Patel, Mruduka, Bagali, Prashanth, Suravajhala, Prashanth
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2018
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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