GREGoR Consortium
@GREGoR_research
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Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.
USA
Joined October 2021
RT @IGVFConsortium: CAGI7 submission deadlines have been extended. We're in the final stretch, don't miss it! š.
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RT @GA4GH: The GA4GH 13th Plenary meeting will take place from 6 to 10 October in Uppsala, Sweden. The Regular Registration period closes oā¦.
broadinstitute.swoogo.com
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RT @GeneticsSociety: Big conversations are on the horizonāand our #ASHG25 speakers are ready to inform, inspire, and energize the #humangenā¦.
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RT @BCM_HGSC: Excited to see/hear the final Presentations for the #bioinformatics Hackathon @BCM_HGSC, led by @sedlazeck.
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RT @IGVFConsortium: See how IGVF comes together š§©. Our High-Level Consortium Map highlights the experiments, teams & technologies driving dā¦.
igvf.org
IGVF High-level Consortium Map
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RT @HumanPangenome: š Explore the Human Pangenome!. Our interactive Data Explorer makes it easy to navigate sequencing, assemblies, annotatā¦.
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RT @PNRIGenetics: Weāre proud to share that PNRI postdoc Shradha Suyal, PhD has received the 2025 Cynthia Le Mons Fellowship from @NUCDF! šā¦.
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RT @useAnVIL: If you want to try out AnVIL, join the AnVIL Virtual Workshop on Tuesday 9/2 from 3-5 pm ET! You'll learn about the platform,ā¦.
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RT @GeneticsSociety: Be a part of #ASHG25 in a special way by presenting the most recent cutting-edge science as a late-breaking abstract pā¦.
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RT @IGVFConsortium: MPRAnalyze offers a powerful statistical framework for Massively Parallel Reporter Assays (MPRAs) to study enhancer actā¦.
bioconductor.org
MPRAnalyze provides statistical framework for the analysis of data generated by Massively Parallel Reporter Assays (MPRAs), used to directly measure enhancer activity. MPRAnalyze can be used for...
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RT @HumanPangenome: Accurate genome assemblies just got better. DeepPolisher improves base-level accuracy, cutting errors by 50%+ and indelā¦.
biorxiv.org
Accurate genome assemblies are essential for biological research, but even the highest quality assemblies retain errors caused by the technologies used to construct them. Base-level errors are...
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RT @Physacourses: š Join our Structural Variant Detection & Comparison course (1ā3 Dec , online) with @sedlazeck & @lfpaulin @BCM_HGSCš§¬ .Lā¦.
physalia-courses.org
1-3 December 2025 To foster international participation, this course will be held online
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RT @GA4GH: Join the GA4GH Genomic Knowledge Standards (GKS) Think Tank! The next meeting will take place on Wednesday, 27 August from 14:00ā¦.
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RT @CellPressNews: HGG Advances (@HGGAdvances) welcomes submissions covering the complete spectrum of human genetics and genomics research.ā¦.
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RT @IGVFConsortium: The IGVF Data Portal serves as the central hub for research data from the consortium, encompassing raw sequences, analyā¦.
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RT @HumanPangenome: Headed to #ASHG25? . Donāt miss HPRCās workshop on the Human Pangenome: Data, Tools & Workflows. š
Oct 14 | 10AMā12PMā¦.
ashg.org
Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome
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RT @HumanPangenome: The largest WGS study of 9p-related syndromes to date analyzes 100 individuals, revealing key genes, structural variatiā¦.
pmc.ncbi.nlm.nih.gov
Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale...
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RT @PNRIGenetics: Weekend plans: road trip, long hike, yard work, just some quiet time? Make it better with a dose of discovery. From grouā¦.
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