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Article

Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2021

Claes Kathleen B M, Rosseel Toon, De Leeneer Kim

Abstract excerpt

Presence of pseudogenes is a dreadful issue in next generation sequencing (NGS), because their contamination can interfere with the detection of variants in the genuine gene and generate false positive and false negative variants.In this chapter we focus on issues related to the application of NGS strategies for analysis of genes with pseudogenes in a clinical setting. The degree to which a pseudogene impacts the...

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PMID: 34165726
DOI: 10.1007/978-1-0716-1503-4_22

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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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