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Software
HI-CNV The HI-CNV software ( Hujoel et al. 2022 Cell) calls copy-number variants (CNVs) from SNP-array genotyping probe intensity data in large cohorts. HI-CNV uses a haplotype-informed approach that improves power to detect shorter CNVs (spanning as few as two genotyping probes) by incorporating...
Data
CNV-phenotype associations for 56 quantitative traits in UK Biobank Hujoel et al. 2022 CellThis data set contains full association statistics from BOLT-LMM analysis of categories of CNVs called in the UK Biobank cohort using HI-CNV to perform haplotype-informed CNV detection from SNP-array...