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CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

Abstract Background Large, rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk. CNVs can be detected using different data sources, including genome sequencing, genotyping arrays and quantitative PCR experiments, b...

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Váldodahkkit: Simone Montalbano, G. Bragi Walters, Gudbjorn F. Jonsson, Jesper R. Gådin, Thomas Werge, Daniel F. Gudbjartsson, Hreinn Stefansson, Andrés Ingason
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: BMC 2026-01-01
Ráidu:BMC Bioinformatics
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Liŋkkat:https://doi.org/10.1186/s12859-026-06375-6
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