prsdiversity.bsky.social
The NIH-funded Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium. primedconsortium.org
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H/t to co-authors @johannalsmith.bsky.social, @quennawong.bsky.social, Whitney Hornsby, @mconomos.bsky.social, @blueyedgenes.bsky.social, and the entire Data Sharing Working Group! @prsdiversity.bsky.social is an NHGRI and NCI funded Consortium 7/
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Additionally, we make recommendations for policy and practice across all these areas, to inform future research and data sharing efforts 6/
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We introduce key policy clarifications and suggested approaches to sharing genomic summary results, such as new polygenic risk score models - a key product of @prsdiversity.bsky.social 5/
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We describe challenges and solutions to sharing the output of harmonizing genotypes and phenotypes given that we are secondary users of pre-existing data sources 4/
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Technical implementation of data sharing in the @anvilproject.org cloud platform includes managing access to data storage and analysis workspaces, and developing new tools and workflows 3/
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We describe design and implementation of data sharing policies and procedures to bring diverse data together, including coordinated dbGaP applications and a Consortium Data Sharing Agreement 2/
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PRIMED is also building collaborations across diverse global datasets and investigators to continue working towards equity of genomic prediction across the globe - follow us here and find out more at [email protected]. PRIMED is funded by NHGRI and NCI /end
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PRIMED is one of the first consortia to use the NHGRI AnVIL cloud platform as a collaborative hub for research. Policy and technical solutions to enable secure data sharing and analysis in the cloud are presented. Analysis tools and workflows and a data model are publicly available. 6/
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Genetic risk is only one factor in a person’s overall disease risk. PRIMED is also investigating how to include non-genetic factors such as environmental exposures (e.g. pollution) and social determinants of health (e.g. food access, discrimination) into overall risk models. 5/
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PRIMED has built off of the @nationalacademies.org recommendations on population descriptors in genomics research to develop a practical implementation of a data model for collecting and working with population descriptor data 4/
nap.nationalacademies.org/catalog/2690...
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PRS that combine information from multiple diverse populations improve individual risk prediction. PRIMED is developing methods that reflect the full complexity of genetic ancestry, both genome-wide and at specific variants, rather than requiring a single ancestry label for each person 3/
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This marker paper gives an overview of Consortium objectives and design, ongoing activities, and initial products including new PRS methods, a Consortium data model to enable data harmonization, recommendations on population descriptors, and analytic workflows 2/