👥New from ClinGen: The Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel has released PALB2-specific ACMG/AMP variant interpretation guidelines for accurate classification of PALB2 germline sequence variants.
Full guidelines: www.cell.com/ajhg/fulltex...
Full guidelines: www.cell.com/ajhg/fulltex...
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
The HBOP VCEP developed PALB2-specific ACMG/AMP variant interpretation guidelines by tailoring, limiting, or removing existing codes. Testing on 39 pilot variants improved concordance with ClinVar…
www.cell.com
September 23, 2025 at 5:30 AM
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The quiet revolution – revising ACMG criteria for epilepsy genes | Beyond the Ion Channel
...we just published our blog post on the revision of ACMG criteria for epilepsy-related sodium channels
epilepsygenetics.blog/2025/09/04/t...
...we just published our blog post on the revision of ACMG criteria for epilepsy-related sodium channels
epilepsygenetics.blog/2025/09/04/t...
September 4, 2025 at 9:39 PM
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I’ll be at ACMG this coming Friday and would love to catch up with anyone interested in hearing more about Sequins molecular spike-in controls for WGS. Please reach out if interested.
sequins.bio/wgs/
sequins.bio/wgs/
Sequins WGS
Core Control Set | Sequins
Whole Genome Sequencing (WGS) has become a powerful tool for identifying disease-causing genetic variants. Given the varied source of samples across multiple laboratories and cohorts, the need to stan...
sequins.bio
March 18, 2025 at 12:58 AM
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Ma source : JF Berthoumieu (ACMG). A Murcie, une panne provoquant l’arrêt forcé des climatiseurs a diminué la température de 3°. Idem aux US
December 18, 2024 at 2:11 PM
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ACMG last week was a blast, long-read to increase diagnostic yield ✔️, methylation for simoustaneous functional insights ✔️ and Dr Wendy Chung presentation showing 24% increase diagnostic yield on rare disease samples from 350+ families with #nanopore sequencing @nanoporetech.com
March 24, 2025 at 5:06 PM
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BayesQuantify: an R package utilized to refine the ACMG/AMP criteria according to the Bayesian framework https://www.medrxiv.org/content/10.1101/2024.09.08.24313284v1
BayesQuantify: an R package utilized to refine the ACMG/AMP criteria according to the Bayesian framework https://www.medrxiv.org/content/10.1101/2024.09.08.24313284v1
Improving the precision and accuracy of variant classification in clinical genetic testing involves
www.medrxiv.org
September 10, 2024 at 10:40 PM
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ACMG Young Professionals Membership - affordable membership for those sitting for medical genetics exams and those recently certified acmg.net/YoungProfess... ACMG…Be a Part of It #joinACMG
March 18, 2025 at 6:34 PM
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We're excited to announce our launch of StrataRisk™, a cutting-edge Polygenic Risk Score (PRS) SaaS platform, at the ACMG - American College of Medical Genetics and Genomics 's 2025 Annual Conference.
🗞️ Press Release: bit.ly/4hkhAcH
🗞️ Press Release: bit.ly/4hkhAcH
Galatea Bio Launches StrataRisk™ Polygenic Risk Score to Scale Common Disease Risk Assessment and Reporting at the 2025 ACMG Conference
MIAMI LAKES, Fla., March 18, 2025 (GLOBE NEWSWIRE) -- Galatea Bio, a leader in precision health, announced today the launch of StrataRisk™, a Polygenic...
bit.ly
March 19, 2025 at 8:14 PM
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Not a bad first week, one ACMG abstract submitted, one #ASHG2014 invited session proposal in and a couple of scripts written.
November 3, 2024 at 10:36 AM
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Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) www.gimjournal.org/article/S109... #hvhebron #onco
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
RAD51C, RAD51D, and BRIP1 germline pathogenic variants (GPVs) are associated with
increased lifetime risks of tubo-ovarian cancer. Resources for managing RAD51C, RAD51D,
and BRIP1 heterozygotes in cli...
www.gimjournal.org
October 16, 2025 at 3:09 PM
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Caught on 📸! @bcmgenetics.bsky.social residents and fellows excited to be at the 2025 ACMG Annual Meeting in Los Angeles! 🌴🧬 Networking with brilliant minds and exploring groundbreaking advancements in clinical genetics and genomics. #ACMG2025 #Genetics #BaylorGenetics
March 21, 2025 at 3:20 PM
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There are only two days left to submit a proposal for the 2026 ACMG Annual Clinical Genetics Meeting in Baltimore, MD, March 10-14, 2026. The deadline for submission is this Friday, April 25 at 11:59 pm PT. #medicalgenetics #medicaleducation
Only 10 days left to submit your proposal for #ACMGMtg26 (March 10–14, Baltimore)! Share your innovative ideas for dynamic learning—session types & tips available on website. #MedicalEducation
Deadline: April 25, 11:59 pm PT
bit.ly/4a7s0K5
[email protected]
Deadline: April 25, 11:59 pm PT
bit.ly/4a7s0K5
[email protected]
April 23, 2025 at 3:06 PM
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Newborn Screening Coalition Established by ACMG to Enhance National Standards#USA#healthcare#Bethesda#ACMG#newborn_screening
Newborn Screening Coalition Established by ACMG to Enhance National Standards
The ACMG has launched a Newborn Screening Coalition to uphold and evolve evidence-based standards following federal advisory group dissolution, enhancing newborn health.
third-news.com
October 10, 2025 at 1:52 PM
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essa musica mexe mais acmg agr. na adolescência era sobre a menina que eu gostava indo p nordeste, hoje é sobre o medo que tenho de não conseguir viver tudo q eu quero viver com as pessoas pois mudanças climaticas.
stand by me, nobody knows the way its gonna be...
open.spotify.com/track/7aSSsH...
stand by me, nobody knows the way its gonna be...
open.spotify.com/track/7aSSsH...
Stand by Me
open.spotify.com
September 21, 2025 at 2:42 PM
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Come meet @pacbio.bsky.social Turner Duncan this morning during the #ACMGMtg25 poster session as he presents “Extracting HMW DNA from saliva for HiFi sequencing applications.” Poster #727. #PacBio #ACMG
March 20, 2025 at 5:16 PM
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Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar. https://www.medrxiv.org/content/10.1101/2024.11.24.24317862v1
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar. https://www.medrxiv.org/content/10.1101/2024.11.24.24317862v1
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic va
www.medrxiv.org
November 27, 2024 at 1:40 AM
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Medical genetics students, residents & #geneticcounseling trainees – take the FREE monthly ACMG Student Challenge! Have fun and gain knowledge with our monthly questions about #clinicalgenetics & inborn errors of metabolism. Login and register: bit.ly/434rdbW #MedEd #medicalgenetics
February 21, 2025 at 5:03 PM
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Attending ACMG’s 2025 Annual Meeting? Join ACMG today and save up to $390 on your conference registration the following business day. bit.ly/3NnhIvA #ACMGMtg25
December 31, 2024 at 4:04 PM
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🤩🌍 Al-Ain ACMG UAE and WR Chess triumphed at the 2024 FIDE World Rapid & Blitz Team Championships!
🤔 Who will you be cheering for in the 2025 edition? Drop the names of your favorite players in the comments!
Here’s what you need to know:
🗓 Dates: June 10–16
📍 Location:
🤔 Who will you be cheering for in the 2025 edition? Drop the names of your favorite players in the comments!
Here’s what you need to know:
🗓 Dates: June 10–16
📍 Location:
May 21, 2025 at 12:03 PM
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🖥️ Join the GA4GH Clinical Genomics Laboratory Community on 12 May 2025 for a webinar on the development of gene-level guidance and a variant exception list for classification of variants in the ACMG Secondary Findings genes.
Register:
Register:
Webinar: Development of gene-level guidance and a variant exception list for classification of variants in the ACMG Secondary Findings genes. After registering, you will receive a confirmation email about joining the meeting.
Welcome! You are invited to join a meeting: Development of gene-level guidance and a variant exception list for classification of variants in the ACMG Secondary Findings genes. After registering,…
us02web.zoom.us
April 21, 2025 at 1:03 PM
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❔Attending #ACMGmtg25? Contact us to meet in #LA! Visit Booth 723 for live demos & learn more about our Exhibit Theater, Posters and Platform Presentations on our event page: www.genomenon.com/genomenon-at...
#genomics #acmg @theacmg.bsky.social #mastermindgip #ckb #genomenon
#genomics #acmg @theacmg.bsky.social #mastermindgip #ckb #genomenon
February 19, 2025 at 8:45 PM
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ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing https://www.medrxiv.org/content/10.1101/2025.01.22.25320957v1
January 23, 2025 at 10:40 PM
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Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria https://www.medrxiv.org/content/10.1101/2023.08.22.23294353v1
August 24, 2023 at 4:40 PM
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Tackling the #medicalgenetics workforce shortage, ACMG will launch phase one of its E3 (Engage, Equip, Empower) Program at #ACMGMtg25 in LA when it hosts students from underrepresented backgrounds for a one-day immersive experience. bit.ly/41g2ala
February 13, 2025 at 10:13 PM
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📌 Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
sciencedirect.com/science/articl…
@oncoalert.bsky.socia#OncoAlertAFAF
sciencedirect.com/science/articl…
@oncoalert.bsky.socia#OncoAlertAFAF
December 5, 2024 at 7:24 PM
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