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NOBEL PRIZE 2026

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NIHNATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCESR35

Quantitative Methods for Genetic Epidemiology

Completed
Institution
Mayo Clinic Rochester, MN
Principal investigator
Daniel J. Schaid
Funding
$398K
Duration
2021–2026
Open portfolio

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Abstract

Enter the text here that is the new abstract information for your application. The advancements of genomic technologies and assemblies of large disparate sets of biological and health data have outpaced the ability to integrate these different sources of information. Powerful statistical methods and software are needed to fill this gap in order to provide novel understandings of biological processes, as well as provide better predictions of human diseases to achieve the vision of personalized medicine. The broad goals of this project are to advance genetic epidemiology studies of human traits and diseases by expanding our development of statistical analytic methods and software encompassing four main areas: 1) multivariate methods to decipher genetic contributions; 2) statistical fine-mapping of genetic variants; 3) causal mediation methods; 4) polygenic risk scores (PRS) for predicting disease. Although these areas might appear broad and disparate, there is pressing need to build more integrative methods across these domains. For example, because molecular pleiotropy is pervasive, multivariate analysis is essential to identify shared genetic factors acting through common biological mechanisms of multiple traits, and when using PRS to predict disease, complex traits are often better predicted when multivariate correlated traits are used. And, the methods used for statistical fine-mapping, including use of annotation, are relevant for creating PRS to predict disease. Our team, involving statistical geneticists, computational biologists, genetic epidemiologist and clinical investigators, has decades of experience and will capitalize on the extensive resources and collaborations we have developed. Our novel methods will be applied to a broad range of diseases, with ultimate aims to better understand disease etiology and improve disease prediction to achieve earlier diagnosis. User-friendly software will be distributed with open access to the scientific community. We will take advantage of rapidly evolving technologies, biologic and computational insights from multiple fields, and evolving public health and clinical unmet needs to inform our science.

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R35NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCESSpecial Emphasis Panel[ZRG1-CB-S(55)R]statisticalgeneticevolvingdisparategenetic epidemiologytraitsmultivariateprs

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