GBS-MeDIP: A combination of methods for multi-omic identification of genetic and epigenetic variants in tumors

GBS-MeDIP: A combination of methods for multi-omic identification of genetic and epigenetic variants in tumors | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article GBS-MeDIP: A combination of methods for multi-omic identification of genetic and epigenetic variants in tumors Fábio Pertille, Shiva Rezaei, Julia Uffenorde, Oliver Gimm, Mohammad Hosseinpour feizi, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4418112/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Tumor development, both malignant and benign, is multifactorial and linked both to genetic and epigenetic alterations. DNA methylation, an essential mechanism of epigenetic modification, plays a pivotal role in the development of various diseases, including cancer. Therefore, the development of multi-omic high throughput sequencing methods with the ability of parallel genetic and epigenetic profiling can leverage discoveries in biomedical studies. We recently introduced a novel combination of methodologies, called GBS-MeDIP (Genotype by sequencing integrated with Methylated DNA ImmunoPrecipitation), for the parallel identification of genetic and epigenetic markers in the same reduced fraction of the genome across individuals. In the present paper we show its application in two case studies to investigate methylomic and genetic variations (single nucleotide polymorphisms and copy number variations) in two types of human tumors, gastric and parathyroid. Our method identified epi/genetic markers covering the whole human genome. Our method is a simple, cost-effective approach, which uses small starting amounts of DNA, and enables the interrogation and integration of different levels of omic data in tumor research. Health sciences/Medical research/Biomarkers/Diagnostic markers Health sciences/Biomarkers/Predictive markers Biological sciences/Biotechnology/Sequencing/Next-generation sequencing Biological sciences/Genetics/Epigenomics Full Text Additional Declarations (Not answered) Supplementary Files SUpplTableGBSMediptumorS1.xlsx SUpplTableGBSMediptumorS2.xlsx Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4418112","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":315374447,"identity":"07fc1294-99d6-478b-b7b0-5ee887a571c6","order_by":0,"name":"Fábio 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