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# Structural variant interpretation in the All of Us Program using long-read sequencing
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## Project Overview
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This project investigates the functional and clinical relevance of structural variants (SVs) identified from long-read sequencing data in the All of Us (AoU) Research Program. To evaluate their broader impact, these variants were imputed into both the 1000 Genomes Project and short-read AoU cohorts. Integration with RNA-seq and electronic health record (EHR) data enabled downstream analyses, such as eQTL mapping, linkage disequilibrium (LD) with GWAS variants, and phenome-wide association studies (PheWAS), to comprehensively characterize the regulatory and disease-related effects of variants.
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This section investigates the functional and clinical relevance of structural variants (SVs) identified from long-read sequencing data in the All of Us (AoU) Research Program. To evaluate their broader impact, these variants were imputed into both the 1000 Genomes Project and short-read AoU cohorts. Integration with RNA-seq and electronic health record (EHR) data enabled downstream analyses, such as eQTL mapping, linkage disequilibrium (LD) with GWAS variants, and phenome-wide association studies (PheWAS), to comprehensively characterize the regulatory and disease-related effects of variants.
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### Score the effect of SVs ###
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#### CADD-SV annotation

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