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Highlights

Selected Preprints Mukamel RE*, Handsaker RE*, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA**, Loh PR**. Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer. medRxiv (2022). [ pdf + supp] Selected Publications Hujoel MLA, Sherman MA, Barton AR...

Contact

Positions We will have open positions in 2022 for postdocs and students with very strong computational and/or mathematical background, especially those with C/C++ programming experience or previous research experience in statistical genetics. Please send your CV and a brief statement of your...

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...