PRIMED Consortium

For Women's History Month, the American Society of Human Genetics is highlighting pioneering and contemporary women leaders in the field of genetics, including PRIMED Consortium researchers Eimear Kenny and Genevieve Wojcik Read more here: https://lnkd.in/gJV2aJc4

?? ?? Curious how a research consortium manages sharing data to collaborate on improving genetic risk prediction in global populations? Check out this new preprint from the PRIMED Consortium Data Sharing Working Group! https://lnkd.in/gxm73EDC 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. Technical implementation of data sharing in the AnVIL cloud platform includes managing access to data storage and analysis workspaces, and developing new tools and workflows. 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. We introduce key policy clarifications and suggested approaches to sharing genomic summary results, such as new polygenic risk score models - a key product of?the PRIMED Consortium. Additionally, we make recommendations for policy and practice across all these areas, to inform future research and data sharing efforts. H/t to co-authors Johanna Smith, Quenna Wong, Whitney Hornsby, Matthew Conomos, Sarah Nelson, and the entire Data Sharing Working Group! PRIMED Consortium is an National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) funded Consortium

??? ?? ?? Check out Yunfeng Ruan's recent talk at the Broad Institute of MIT and Harvard, "Polygenic risk scores: method development and application" in our growing collection of videos on the PRIMED Consortium public website https://lnkd.in/gVYrFakA

?? ?? ?? Join us TOMORROW for a journal club on developing polygenic risk scores in diverse populations

How is the PRIMED Consortium improving polygenic risk predictions of health outcomes for diverse populations? ?? Join our January Journal Club next Wednesday to explore their progress, methods, and tools advancing equitable PRS research! ?? Register now?? https://lnkd.in/gU7N8gYg #ASHG #HumanGenetics Matthew Conomos Sarah Nelson

We're delighted to have the PRIMED Perspective featured in the Genomics Landscape, the monthly newsletter from the National Human Genome Research Institute (NHGRI) Director https://buff.ly/3PsUJjF The Perspective outlines goals, approaches, and ongoing activities, including new PRS methods and models for standardization across diverse datasets. It was published by the American Society of Human Genetics in December 2024

?? ??? Mark your new 2025 calendars for the Jan 15 American Society of Human Genetics journal club, where Iftikhar Kullo, Matthew Conomos, and Sarah Nelson will present the PRIMED Perspective marker paper https://lnkd.in/gTPJfCnC. The 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 Register for free at https://lnkd.in/gU7N8gYg?

?? Ring in the new year by reviewing the PRIMED Consortium's progress on improving genetic risk prediction in diverse genetic ancestry populations. See our Research Highlights https://buff.ly/4iUpmfw and video collection https://buff.ly/4iKIbli

A new Perspective from the PRIMED Consortium is out in the American Journal of Human Genetics, the journal for the American Society of Human Genetics! ?? ?? https://lnkd.in/gTPJfCnC ? PRIMED is bringing together researchers and data from across the globe to develop new polygenic risk score methods and improve risk prediction across diverse populations and genetic ancestries. 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. PRS that combine information from multiple diverse populations improve individual risk prediction. PRIMED researchers are 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. PRIMED has built off of the The National Academies of Sciences, Engineering, and Medicine recommendations on population descriptors in genomics research to develop a practical implementation of a data model for collecting and working with population descriptor data.? https://lnkd.in/g7SQccXc 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. PRIMED is one of the first consortia to to use the National Human Genome Research Institute (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 being made publicly available. PRIMED is also building collaborations across diverse global datasets and investigators to continue working towards equity of genomic prediction across the globe - find out more at [email protected]. PRIMED is funded by National Human Genome Research Institute (NHGRI)?and National Cancer Institute (NCI).

It's PRIMED time at the American Society of Human Genetics Annual Conference! Those traveling to Denver this week, come check out posters, talks, and other sessions from PRIMED Consortium investigators working to improve genetic risk prediction in diverse ancestry populations: https://lnkd.in/gjNTDxd6