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Genotyping of common SIRPB1 copy number variant using Paralogue Ratio Test coupled to MALDI-MS quantification.

Molecular and cellular probes - 1 Dec 2015

Royo Jose Luis, Pascual-Pons Mariona, Lupiañez Arantxa, Sanchez-López Isabel, Fibla Joan

Abstract excerpt

Copy number variant (CNV) regions have been proven to have a significant impact on gene expression. Some of them have been also found to be associated to different human diseases. CNV genotyping is often prone to error and cross-validation with independent methods is frequently required. The platform of choice depends on whether it is a genome-wide discovery screening or a candidate CNV study, the cohort size and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 26239731
DOI: 10.1016/j.mcp.2015.07.009

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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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