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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Detalles Bibliográficos
Autores principales: Mathur, Praveen, Medicherla, Krishna Mohan, Chaudhary, Spandan, Patel, Mruduka, Bagali, Prashanth, Suravajhala, Prashanth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923232/
https://www.ncbi.nlm.nih.gov/pubmed/29703930
http://dx.doi.org/10.1038/s41598-018-24967-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923232/
https://www.ncbi.nlm.nih.gov/pubmed/29703930
http://dx.doi.org/10.1038/s41598-018-24967-y

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