IGVF (@igvfconsortium) 's Twitter Profile
IGVF

@igvfconsortium

Impact of Genomic Variation on Function Consortium

ID: 1511000162268811268

calendar_today04-04-2022 15:18:15

41 Tweet

339 Followers

110 Following

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Catch Douglas Fowlerโ€™s talk on โ€œEvaluation and Interpretation of Human Genomic Variationโ€. Fowler delivers an insightful talk- part of ASHG & National Human Genome Research Institute Journeys in Human Geneticsย series, exploring genetics at scientific and societal levels. youtu.be/l4--AvY9zUY?siโ€ฆ

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The IGVF Consortium, funded by NHGRI, is uncovering how genomic variation shapes genome function and impacts phenotypes using cutting-edge research. Visit our website to learn more. igvf.org

The IGVF Consortium, funded by NHGRI, is uncovering how genomic variation shapes genome function and impacts phenotypes using cutting-edge research. 

Visit our website to learn more.

igvf.org
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How well can computational tools predict the effects of genetic variation on human traits? IGVF researchers discover AlphaMissense leads predictions of rare missense variants in UK Biobank and All of Us participants. explore the findings: pubmed.ncbi.nlm.nih.gov/38951922/

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Another year in the books! ๐Ÿ—“๏ธ IGVF wishes everyone a joyous start to 2025! ๐ŸŽ‰ As we roll into a new month in a new year, we look forward to continued collaboration, innovation, and progress in genomic variation research. #happynewyear

Another year in the books! ๐Ÿ—“๏ธ

IGVF wishes everyone a joyous start to 2025! ๐ŸŽ‰

As we roll into a new month in a new year, we look forward to continued collaboration, innovation, and progress in genomic variation research.

#happynewyear
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IGVF researchers propose ALL-Sum: a faster, more precise method for polygenic risk scores. Advancing personalized medicine with GWAS data. 25% higher accuracy, 15x faster, and half the memory of current tools. Read more: pubmed.ncbi.nlm.nih.gov/39110727/

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How can genomic variation shape genome function and influence phenotypes? IGVF tackles this question by creating innovative models, mapping genes and regulatory elements, and building a variant impact catalog. Read more about the IGVF impact: sciencedirect.com/science/articlโ€ฆ

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How are multiplexed assays of variant effect (MAVEs) transforming genetic variant curation? Dr. Douglas Fowler of IGVF joins the DNA Today podcast to discuss how MAVEs improve variant interpretation and are advancing precision medicine. ๐ŸŽงListen now: dnatodaypodcast.podbean.com/e/325-revolutiโ€ฆ

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IGVF is advancing genomic research by developing a framework to understand how genetic variation affects genome function and shapes phenotypes. This fundamental work lays the foundation for new discoveries in health and disease.

IGVF is advancing genomic research by developing a framework to understand how genetic variation affects genome function and shapes phenotypes. 

This fundamental work lays the foundation for new discoveries in health and disease.
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GA4GH April Connect 2025 is 31 days away! April 1โ€“4 in Cambridge, MA, join IGVF along with the GA4GH community in our common goal of advancing the GA4GH Road Map and shaping future developments. In-person registration closes on March 18! broadinstitute.swoogo.com/connect25bos/7โ€ฆ

GA4GH April Connect 2025 is 31 days away!  

April 1โ€“4 in Cambridge, MA, join IGVF along with the GA4GH community in our common goal of advancing the GA4GH Road Map and shaping future developments.  

In-person registration closes on March 18!

broadinstitute.swoogo.com/connect25bos/7โ€ฆ
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๐Ÿ—“๏ธ The deadline to register for in-person attendance at GA4GH Connect is Wednesday, March 18! Join us April 1-4 in Cambridge, MA to collaborate, share insights, and help shape the future of the GA4GH Roadmap. Weโ€™ll see you there! broadinstitute.swoogo.com/connect25bos/

๐Ÿ—“๏ธ The deadline to register for in-person attendance at GA4GH Connect is Wednesday, March 18!

Join us April 1-4 in Cambridge, MA to collaborate, share insights, and help shape the future of the GA4GH Roadmap. Weโ€™ll see you there!

broadinstitute.swoogo.com/connect25bos/
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Explore the CRISPRi Tiling Design Tool from the Engreitz Lab. This resource streamlines the design of CRISPRi and prime editing tiling screens by optimizing gRNA selection, filtering off-target effects, and assembling oligo pools. Access the tool here: github.com/broadinstituteโ€ฆ

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Collaboration is how we establish and conquer our common goals. April 1-4 in Cambridge, MA, weโ€™re coming together to advance the GA4GH Road Map and shape the future of genomics. We look forward to next week and to fostering partnerships and advancing common goals. ๐ŸŽ‰

Collaboration is how we establish and conquer our common goals. April 1-4 in Cambridge, MA, weโ€™re coming together to advance the GA4GH Road Map and shape the future of genomics.

We look forward to next week and to fostering partnerships and advancing common goals. ๐ŸŽ‰
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sc-linker integrates scRNA-seq, epigenomic maps, and GWAS data to identify cell types and processes influenced by genetic variants in disease. Analyze single-cell datasets and explore disease mechanisms. ๐Ÿ› ๏ธ Find the tool here: github.com/karthikj89/scgโ€ฆ

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Our program goals are what drives the research. IGVF is building a public catalog of variant impacts, advancing research across biology and medicine by combining data, tools, and models to better understand how genomic variation influences genome function and phenotypes.

Our program goals are what drives the research.

IGVF is building a public catalog of variant impacts, advancing research across biology and medicine by combining data, tools, and models to better understand how genomic variation influences genome function and phenotypes.
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ArchRย is a scalable tool for analyzing single-cell chromatin accessibility data. This guide walks through key steps like clustering and dimensionality reduction. Start here: archrproject.com/bookdown/indexโ€ฆ

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IGVF includes 5๏ธโƒฃ core components. Predictive Modeling, Characterization, Networking, Mapping, and Data Coordination. Research teams across these groups work together to uncover how genomic variants influence genome function and phenotype. Learn more: igvf.org/about/

IGVF includes 5๏ธโƒฃ core components.

Predictive Modeling, Characterization, Networking, Mapping, and Data Coordination.

Research teams across these groups work together to uncover how genomic variants influence genome function and phenotype.

Learn more: igvf.org/about/
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A recent study highlights how chromatin reconfiguration drives X-chromosome inactivation and how noncoding RNAs like Xist help organize nuclear compartments. Uncover the science behind it: pubmed.ncbi.nlm.nih.gov/39053028/