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Article

A haplotype-based normalization technique for the analysis and detection of allele specific expression.

BMC bioinformatics - 13 Sept 2016

Hodgkinson Alan, Grenier Jean-Christophe, Gbeha Elias, Awadalla Philip

Abstract excerpt

BACKGROUND: Allele specific expression (ASE) has become an important phenotype, being utilized for the detection of cis-regulatory variation, nonsense mediated decay and imprinting in the personal genome, and has been used to both identify disease loci and consider the penetrance of damaging alleles. The detection of ASE using high throughput technologies relies on aligning short-read sequencing data, a process...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27618913
DOI: 10.1186/s12859-016-1238-8
PMCID: PMC5020486

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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