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Article

Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.

Canadian journal of diabetes - 1 Feb 2021

Berberich Amanda J, Wang Jian, Cao Henian, McIntyre Adam D, Spaic Tamara, Miller David B, Stock Suzanne, Huot Celine, Stein Robert, Knoll Joan, Yang Ping, Robinson John F, Hegele Robert A

Abstract excerpt

OBJECTIVES: Copy-number variations (CNVs) are large-scale deletions or duplications of DNA that have required specialized detection methods, such as microarray-based genomic hybridization or multiplex ligation probe amplification. However, recent advances in bioinformatics have made it possible to detect CNVs from next-generation DNA sequencing (NGS) data. Maturity-onset diabetes of the young (MODY) 5 is a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33011132
DOI: 10.1016/j.jcjd.2020.06.001

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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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