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Article

Whole exome sequencing reveals rare variants linked to congenital pouch colon.

Scientific reports - 27 Apr 2018

Mathur Praveen, Medicherla Krishna Mohan, Chaudhary Spandan, Patel Mruduka, Bagali Prashanth, Suravajhala Prashanth

Abstract excerpt

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 achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29703930
DOI: 10.1038/s41598-018-24967-y
PMCID: PMC5923232

Genes

CTC1
JAG1
OAS2
PEX16
TSPAN32

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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