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Article

Establishing and validating regulatory regions for variant annotation and expression analysis.

BMC genomics - 23 Jun 2016

Kaplun Alexander, Krull Mathias, Lakshman Karthick, Matys Volker, Lewicki Birgit, Hogan Jennifer D

Abstract excerpt

BACKGROUND: The regulatory effect of inherited or de novo genetic variants occurring in promoters as well as in transcribed or even coding gene regions is gaining greater recognition as a contributing factor to disease processes in addition to mutations affecting protein functionality. Thousands of such regulatory mutations are already recorded in HGMD, OMIM, ClinVar and other databases containing published...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27357948
DOI: 10.1186/s12864-016-2724-0
PMCID: PMC4928138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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