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Article

A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.

Bioinformatics (Oxford, England) - 3 Aug 2026

Brown Scott D, Dreolini Lisa, Minor Agata, Mozel Michelle, Wong Nancy, Mar Sharon, Lieu Amanda, Khan Maimun, Carlson Amanda, Hrynchak Monica, Holt Robert A, Missirlis Perseus I

Abstract excerpt

MOTIVATION: The Oxford Nanopore Technologies' sequencing platform offers a path towards bedside genomics, producing long reads that can completely cover a gene of interest, and detect any known or novel variant the gene contains. However, the analysis of these long reads to identify actionable genotypes remains challenging and typically requires customization depending on the target gene. RESULTS: Here, we...

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

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Identifiers

PMID: 42477877
DOI: 10.1093/bioinformatics/btag535
PMCID: PMC13437021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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