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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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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: Mathur, Praveen, Medicherla, Krishna Mohan, Chaudhary, Spandan, Patel, Mruduka, Bagali, Prashanth, Suravajhala, Prashanth
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Accesso online: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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