We developed an online SV/VNTR genotype imputation tool for public use by leveraging 154 high-quality assemblies from HGSVC2 and HPRC. We have used this tool to impute SVs and VNTRs in UKB SNP array data and conduct a GWAS for 2,682 UKB traits in up to 456,643 individuals of European ancestry. Please refer to the 'Tutorial' section for instructions on how to use this online portal and download the summary statistics.
Wei-Yang Bai (pipeline, data analysis and documentation), Hailing Fang and Junren Hou (online tool and maintenance), Jian Yang (overseeing, methods, documentation, and maintenance). The online tool was developed based on the source code modified from PheWeb. We thank the Westlake University High Performance Computing Centre for hosting the online tool and the summary data.
If you have any question, please send an email to Jian Yang at jian.yang@westlake.edu.cn or Wei-Yang Bai at baiweiyang27@westlake.edu.cn.
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