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Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility

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posted on 2024-01-08, 04:20 authored by Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik
Additional file 1: Supplemental Notes. Note S1. Microarray-based CNV calling. Note S2. Sample filtering criteria. Note S3. Probe and covariate selection for main GWAS analysis. Note S4. Post-CNV-GWAS summary statistics processing. Note S5. Estonian Biobank replication. Note S6. Subgrouping of CNV carriers. Note S7. BRCA1 deletion association with ovarian and other female cancers. Note S8. LDLR deletion association with ischemic heart disease. Note S9. 16p12.2 deletion associations. Note S10. 22q11.2 CNV associations.

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Swiss National Science Foundation Swiss National Science Foundation Horizon2020 Twinning projects Estonian Research Council Department of Computational Biology, University of Lausanne Center for Integrative Genomics, University of Lausanne University of Lausanne

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    Genome Medicine

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    Structural variationCNVGWASTime-to-event analysisCommon diseasesPleiotropy16p13.1116p11.2Genomic disorders

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