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Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Aug 2012

Ku Chee-Seng, Cooper David N, Wu Mengchu, Roukos Dimitrios H, Pawitan Yudi, Soong Richie, Iacopetta Barry

Abstract excerpt

Recent advances in genotyping and sequencing technologies have provided powerful tools with which to explore the genetic basis of both Mendelian (monogenic) and sporadic (polygenic) diseases. Several hundred genome-wide association studies have so far been performed to explore the genetics of various polygenic or complex diseases including those cancers with a genetic predisposition. Exome sequencing has also...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22522846
DOI: 10.1038/modpathol.2012.62

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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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