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Article

Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.

The Journal of molecular diagnostics : JMD - 1 Jan 2022

Sicko Robert J, Romitti Paul A, Browne Marilyn L, Brody Lawrence C, Stevens Colleen F, Mills James L, Caggana Michele, Kay Denise M

Abstract excerpt

Real-time quantitative PCR (qPCR) using RPPH1 as a reference gene is a standard method for assessment and validation of genomic copy number variations. However, variants in the reference amplicon may cause errors, which was investigated herein. While conducting copy number variation validations for birth defects research studies, 13 of 1634 specimens with multiple loci that appeared to be present as three copies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34656763
DOI: 10.1016/j.jmoldx.2021.09.007
PMCID: PMC8802765

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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