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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Mathur, Praveen, Medicherla, Krishna Mohan, Chaudhary, Spandan, Patel, Mruduka, Bagali, Prashanth, Suravajhala, Prashanth
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2018
Gaiak:
Sarrera elektronikoa: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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