@ClinGenResource

Sharing Data. Building Knowledge. Improving Care. NIH-funded resource established in 2013.

clinicalgenome.org
Joined May 2013
  • Tweets2.3K
  • Following121
  • Followers9.5K
167Media
Excited to announce the ClinGen PGx Interpretation Committee's latest paper, “Towards an Integrated Resource for Pharmacogenomics (PGx): Survey Findings from the Genomic Medicine Communities,” now in press!  Read more on the ClinPGx blog blog.clinpgx.org/in-press-su… #pharmacogenomics

In Press: Survey Findings on Integrating Pharmacogenomics into Genomic Medicine

We’re excited to announce that our latest paper, titled “Towards an Integrated Resource for Pharmacogenomics (PGx): Survey Findings from the Genomic Medicine Communities,” is now in press in Genetics...

blog.clinpgx.org
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ClinGen retweeted
ACMG
@TheACMG23 Apr 2025
Join us for the monthly @ClinGenResource Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series with ACMG. Don’t miss the 5/27 webinar on Langerhans cell histiocytosis featuring experts from @ChariteBerlin. Details: bit.ly/3GihmpL
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ClinGen retweeted
ACMG
@TheACMG20 Mar 2025
Beginning at 1:30 in LACC 515 AB – “The ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification.” This session will explore the forthcoming SVC v4.0 Standards. What are the differences compared to the 2015 framework? #ACMGMtg25 @AMPath @Pathologists @ClinGenResource
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ClinGen retweeted
GA4GH@GA4GH12 Feb 2025
🔬On 10 March 2025, join the Clinical Genomics Laboratory Community for its inaugural meeting on the Sequence Variant Classification v4.0 standards. Learn more and register: hubs.li/Q036hqK20
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⏳1 Day till 15th @AfSHG_Genetics & 1st Ugandan Society of Human Genetics & Bioinformatics Conference taking place in Entebbe, Uganda 🇺🇬 📆Dates: 3- 7 February 2025 ℹ️More: afshg2025.org 🗣️Meet the Speaker: Prof @scottmwilliams9 #Africa #Genetics #AfSHG2025
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Want to enhance or implement justice, equity, diversity, & inclusion (JEDI) principles in your organization? @AJHGNews' latest article w/ @AlicePopejoy & co. share the challenges & opportunities of enacting a JEDI action plan to the @ClinGenResource: cell.com/ajhg/abstract/S0002… #ASHG
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ClinGen retweeted
AJHG@AJHGNews9 Jan 2025
📢New Perspective! 📰Design and implementation of an action plan for justice, equity, diversity, and inclusion within the @ClinGenResource 🧑‍🤝‍🧑@alicepopejoy @splon & colleagues cell.com/ajhg/abstract/S0002…
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It was a BIG year for ClinGen VCEPs! Variant curations grew over 50% in 2024! Variant curation volunteers reside in 55 countries around the world. Thank you to the curators, coordinators and experts supporting ClinGen's VCEPs for all your hard work! search.clinicalgenome.org/kb…
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Four new ClinGen GCEPs started in 2024! Gene curations increased by 25%. Gene curation has engaged volunteers from 58 countries. Thank you to all the curators, experts, coordinators, and the team supporting the GCI for all your hard work in 2024! search.clinicalgenome.org/kb…
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ClinGen Working Groups and Expert Panels published more than 20 papers in 2024. Congratulations to all the groups that were able to publish their hard work! See ClinGen’s publications from this year and years prior here: scholar.google.com/citations…
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From Toronto, to Baltimore, to Bangkok, to Athens and Doha, ClinGen members shared their efforts at meetings and conferences around the globe! ClinGen members presented work in at least 10 states in the USA and in at least 6 different countries around the world in 2024!
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Summer 2024 was full of ClinGen events including co-hosting the Curating the Clinical Genome conference, the Immunology Clinical Domain Working Group's virtual curation workshop, ClinGen Excellence Awards, and the annual Genomics Careers Panel Webinar Series!
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Replying to @ClinGenResource
@ClinGenResource 's patient registry, GenomeConnect started in October 2014. Thank you to all the participants who have registered and engaged in patient data sharing over the years! Learn more about our growth in this quarter’s newsletter: bit.ly/49fXUEh
GenomeConnect, The ClinGen Patient Portal, logo is over a light blue background. To the right is a white oval that states "GenomeConnect's 10th Anniversary" over a multicolor background with abstract shapes.

ALT GenomeConnect, The ClinGen Patient Portal, logo is over a light blue background. To the right is a white oval that states "GenomeConnect's 10th Anniversary" over a multicolor background with abstract shapes.

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It’s almost the end of 2024 and it’s been a great year for ClinGen Resource! This year we got to celebrate 10 years of ClinGen and all that our members have accomplished over the past decade! Over the next month we will be sharing ClinGen’s Year in Review for 2024!
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Join our webinar "Using ClinVar to Share Germline and Somatic Variant Classifications from Clinical Genomic Testing for Cancer" to learn how labs benefit from contributing germline data and how cancer labs can share somatic variant classifications. mms.cancergenomics.org/membe…
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The #ClinGen expert curation ecosystem enables the global dissemination of evidence-based #genomics support resources bit.ly/3Vg9Hgj #clincalgenetics #datasharing @splon @HeidiRehm @ClinGenResource
Screenshot of Figure 1: The ClinGen expert curation ecosystem has developed into a uniquely synergistic andsupported global system. The green outer semicircle represents the foundational infrastructure of the consortium, including standards and frameworks, databases, tools, and curation interfaces to support standardized ClinGen curation. This enables the dissemination of ClinGen expert-curated knowledge to the public via the website and knowledgebases. The blue inner semicircle represents the ClinGen leadership and personnel who ensure high-quality curation through the consistent integration of and communication with the Expert Panels and providing ongoing support and intensive training and guidance. The cornerstone of ClinGen is its international network of global experts and biocurators who contribute to the creation of the curation work products to advance genomic medicine.

ALT Screenshot of Figure 1: The ClinGen expert curation ecosystem has developed into a uniquely synergistic andsupported global system. The green outer semicircle represents the foundational infrastructure of the consortium, including standards and frameworks, databases, tools, and curation interfaces to support standardized ClinGen curation. This enables the dissemination of ClinGen expert-curated knowledge to the public via the website and knowledgebases. The blue inner semicircle represents the ClinGen leadership and personnel who ensure high-quality curation through the consistent integration of and communication with the Expert Panels and providing ongoing support and intensive training and guidance. The cornerstone of ClinGen is its international network of global experts and biocurators who contribute to the creation of the curation work products to advance genomic medicine.

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ClinGen retweeted
GA4GH@GA4GH26 Nov 2024
Variation Representation Specification (VRS) v2.0: Open for Comment VRS creates a common language for molecular and systemic variation across genomic resources in a standardised, computable format. Review VRS v2.0 (hubs.li/Q02ZC1C_0) and comment (hubs.li/Q02ZBNJF0).
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We are pleased to share a preprint on the gene curation progress from the first 4 years of the @ClinGenResource Syndromic Disorders Gene Curation Expert Panel (GCEP). buff.ly/3V5kvhh
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Global biodata resources are at risk - funding models are fragile and unsustainable. Support the GBC's Open Letter to call for solutions. Science leaders have already signed the letter, please join them. Read and sign the letter here bit.ly/3UT0c6n #biodatacounts
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