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Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer risk.

Human mutation - 1 Jun 2018

Korbolina Elena E, Brusentsov Ilja I, Bryzgalov Leonid O, Leberfarb Elena Yu, Degtyareva Arina O, Merkulova Tatyana I

Abstract excerpt

In the majority of colorectal cancer (CRC) cases, the genetic basis of predisposition remains unexplained. The goal of the study was to assess the regulatory SNPs (rSNPs) in the human genome and to reveal СRC drivers based on the available chromatin immunoprecipitation sequencing (ChIP-Seq, ChIA-PET) and transcriptional profiling (RNA-Seq) data. We combined positional (locations within genome regulatory elements)...

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PMID: 29573091
DOI: 10.1002/humu.23425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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