Andrés Ingason

Sep 13, 2024 | biorxiv.org | Simone Montalbano |Andrés Ingason |Thomas Werge |Jesper Gaadin

AbstractMotivationFor more than a decade, running PennCNV on SNP array data has been the gold standard for detecting Copy Number Variants (CNVs, deletions and duplications). It is generally assumed that PennCNV has high sensitivity but poor specificity, leading to a large portion of CNV calls being false positives. Researchers often rely on manual inspection of the raw data trends to validate CNV calls. However, this approach is not feasible for more than a handful of loci in large collections.