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igvfconsortium.bsky.social
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GA4GH April Connect 2025 is 31 days away! April 1–4 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...

submitted 3 hours ago • 0 comments

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.

submitted 14 days ago • 0 comments

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. 🎧 Listen now: dnatodaypodcast.podbean.com/e/325-revolu...

submitted 29 days ago • 0 comments

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: www.sciencedirect.com/science/arti...

submitted 32 days ago • 0 comments

IGVF is driving innovation by developing and testing predictive models to understand how genomic variation impacts genome function. These crucial breakthroughs bring us closer to unraveling the complexities of human biology. Learn more about our goals: igvf.org

submitted 42 days ago • 0 comments

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/

submitted 49 days ago • 0 comments

Another year in the books! 🗓️ IGVF wishes everyone a joyous start to 2025! 🎉 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

submitted 59 days ago • 0 comments

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/

submitted 70 days ago • 0 comments

IGVF aims to advance a network-level understanding of how genetic variation affects genome function and shapes phenotypes. By leveraging research and collaboration, our ultimate goal is to create a comprehensive catalog of genomic variants and their impact on genome function and phenotypes.

submitted 80 days ago • 0 comments

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

submitted 88 days ago • 0 comments

Catch Douglas Fowler’s talk on “Evaluation and Interpretation of Human Genomic Variation”. Fowler delivers an insightful talk, part of the ASHG and NHGRI Journeys in Human Genetics series, exploring genetics at scientific and societal levels. youtu.be/l4--AvY9zUY?...

submitted 99 days ago • 0 comments

We’re excited to share the EUGENe toolkit—a powerful Python tool for building and evaluating sequence-based deep learning models in genomics! 🧬 EUGENe streamlines data management, model training, and prediction interpretation, making it easier to analyze biological sequences.

submitted 99 days ago • 1 comment