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Article

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Scientific reports - 19 May 2021

Zhang Zhenhua, van Dijk Freerk, de Klein Niek, van Gijn Mariëlle E, Franke Lude H, Sinke Richard J, Swertz Morris A, van der Velde K Joeri

Abstract excerpt

Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. However, genome diagnostics is based on DNA sequencing and therefore neglects gene expression regulation such as ASE. To take advantage of ASE in absence of RNA...

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Identifiers

PMID: 34012022
DOI: 10.1038/s41598-021-89904-y
PMCID: PMC8134421

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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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