I just did a talk at ACMG comparing techno-libertarianism to Galtonian eugenics that touched on many of these themes. The new search for a divine right of oligarchs. Look at Andreesen’s manifesto, starting with “the Good News.”
March 22, 2025 at 12:11 PM
I just did a talk at ACMG comparing techno-libertarianism to Galtonian eugenics that touched on many of these themes. The new search for a divine right of oligarchs. Look at Andreesen’s manifesto, starting with “the Good News.”
With Maimonides last week and Hildegard of Bingen this week, next we complete the monotheistic trifecta with a vintage episode on Islamic Philosophy. Our Roving Philosophical Reporter learned more about the tradition from the late Hossein Ziai of @ucla.edu: www.youtube.com/watch?v=ACMg... #PhilSky
Islamic Philosophy: Roving Philosophical Report
YouTube video by Philosophy Talk
www.youtube.com
September 24, 2026 at 1:29 PM
With Maimonides last week and Hildegard of Bingen this week, next we complete the monotheistic trifecta with a vintage episode on Islamic Philosophy. Our Roving Philosophical Reporter learned more about the tradition from the late Hossein Ziai of @ucla.edu: www.youtube.com/watch?v=ACMg... #PhilSky
June 11, 2025 at 1:55 PM
acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework academic.oup.com/bioinformati... 🧬🖥️🧪 github.com/badonyi/acmg... #Rstats
October 14, 2025 at 3:55 PM
acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework academic.oup.com/bioinformati... 🧬🖥️🧪 github.com/badonyi/acmg... #Rstats
Our ACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey forms.gle/niNoAwfQmbWn...
ACMG Working Group Survey on VUS Reporting
The ACMG/AMP/CAP/ClinGen SVC v4.0 standards for sequence variant classification will soon be released and provide an easy framework for subclassifying VUS by likelihood of pathogenicity. Another worki...
forms.gle
June 28, 2024 at 11:07 AM
Our ACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey forms.gle/niNoAwfQmbWn...
"While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve."
Rehder et al., ACMG 2021. What challenges remain bringing your tests to market?
www.nature.com/articles/s41...
Rehder et al., ACMG 2021. What challenges remain bringing your tests to market?
www.nature.com/articles/s41...
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) - Genetics in Medicine
Genetics in Medicine - Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and...
www.nature.com
September 23, 2026 at 6:24 PM
"While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve."
Rehder et al., ACMG 2021. What challenges remain bringing your tests to market?
www.nature.com/articles/s41...
Rehder et al., ACMG 2021. What challenges remain bringing your tests to market?
www.nature.com/articles/s41...
📌 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
📌 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
And just like that magic happened. Empty space to sequencing hub. Come talk high accuracy sequencing today at #PacBio booth 816. #ACMG #ACMGMtg25
March 19, 2025 at 7:11 PM
And just like that magic happened. Empty space to sequencing hub. Come talk high accuracy sequencing today at #PacBio booth 816. #ACMG #ACMGMtg25
It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.
March 22, 2025 at 1:00 AM
It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.
Incoming HHS secretary RFK Jr wiped out the federal advisory committee on #newbornscreening. Today the ACMG (American College of Medical Genetics + Genomics) @theacmg.bsky.social announced formation of a potential work-around: the ACMG Newborn Screening Coalition www.acmg.net/PDFLibrary/A...
www.acmg.net
October 10, 2025 at 2:45 PM
Incoming HHS secretary RFK Jr wiped out the federal advisory committee on #newbornscreening. Today the ACMG (American College of Medical Genetics + Genomics) @theacmg.bsky.social announced formation of a potential work-around: the ACMG Newborn Screening Coalition www.acmg.net/PDFLibrary/A...
“There are regions of the genome I didn’t even realise I was missing". At #ACMG, Dr Wendy Chung shared how her team is using nanopore sequencing to help uncover answers in unsolved rare disease cases—highlighting a 24% increase in diagnostic yield across one cohort: youtube.com/watch?v=f5YX... 1/2
Diagnosing the undiagnosed with long-read genome data | ACMG | Corporate Satellite Wendy Chung
YouTube video by Oxford Nanopore Technologies
youtube.com
April 7, 2025 at 4:54 PM
“There are regions of the genome I didn’t even realise I was missing". At #ACMG, Dr Wendy Chung shared how her team is using nanopore sequencing to help uncover answers in unsolved rare disease cases—highlighting a 24% increase in diagnostic yield across one cohort: youtube.com/watch?v=f5YX... 1/2
Now: Shuxi Liu: Collaboration Between the ACMG DEI Committee & ClinGen on Defining Race, Ethnicity & Ancestry in Clinical Applications & Molecular Genetics & Genomics #ACMGmtg24 🧪🧬🖥️
March 14, 2024 at 6:21 PM
Now: Shuxi Liu: Collaboration Between the ACMG DEI Committee & ClinGen on Defining Race, Ethnicity & Ancestry in Clinical Applications & Molecular Genetics & Genomics #ACMGmtg24 🧪🧬🖥️
Happening now, @pacbio.bsky.social PureTarget poster presented by @jocelyne8.bsky.social at #ACMG poster #340. Learn about PureTarget for scalable #HiFi sequencing of native DNA #repeatexpansions #longreads
March 21, 2025 at 5:31 PM
Happening now, @pacbio.bsky.social PureTarget poster presented by @jocelyne8.bsky.social at #ACMG poster #340. Learn about PureTarget for scalable #HiFi sequencing of native DNA #repeatexpansions #longreads
These people are super SMRT sequencing professionals who can bring you up to speed on highly accurate HiFi sequencing from @pacbio.bsky.social and how your research can benefit. Booth 816. #ACMG #ACMGMtg25
March 19, 2025 at 11:53 PM
These people are super SMRT sequencing professionals who can bring you up to speed on highly accurate HiFi sequencing from @pacbio.bsky.social and how your research can benefit. Booth 816. #ACMG #ACMGMtg25
ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency 🧬🩺🧠 www.news-medical.net/news/2024120... #PAHDeficiency #Genetics #Health #Phenylketonuria #Neurocognition #MaternalHealth #PrecisionMedicine @theacmg.bsky.social
ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency
Updated evidence-based clinical guidelines for phenylalanine hydroxylase deficiency diagnosis and management.
www.news-medical.net
December 5, 2024 at 2:40 AM
ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency 🧬🩺🧠 www.news-medical.net/news/2024120... #PAHDeficiency #Genetics #Health #Phenylketonuria #Neurocognition #MaternalHealth #PrecisionMedicine @theacmg.bsky.social
Good take for all meetings, not just ACMG
March 15, 2024 at 9:28 PM
Good take for all meetings, not just ACMG
Come meet @pacbio.bsky.social Matt Holt this morning during the @theacmg.bsky.social poster session as he presents “StarPhase: Leveraging long-read sequencing to update pharmacogenomic benchmarks.” Poster #646. #PacBio #ACMG #ACMGMtg25
March 21, 2025 at 4:53 PM
Come meet @pacbio.bsky.social Matt Holt this morning during the @theacmg.bsky.social poster session as he presents “StarPhase: Leveraging long-read sequencing to update pharmacogenomic benchmarks.” Poster #646. #PacBio #ACMG #ACMGMtg25
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
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...
😈 ACMG Validator for genetics is now open and free. 🇨🇭🧬 switzerlandomics.ch/technologies...
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
June 12, 2026 at 7:07 AM
😈 ACMG Validator for genetics is now open and free. 🇨🇭🧬 switzerlandomics.ch/technologies...
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
Listen to our Managing Director, Joshua I. Altman, on the ACMG Digital Podcast talking about the role of a Chief Communications Officer.
Beltway Media: Experts In Communications and Media
ACMG Digital Podcast · Episode
open.spotify.com
June 2, 2025 at 1:38 PM
Listen to our Managing Director, Joshua I. Altman, on the ACMG Digital Podcast talking about the role of a Chief Communications Officer.
Present our work on a #TTN_missense variant as the cause of familial #DCM at #LorneGenome2026.
Key Point:
TTN missense require careful integration of clinical phenotyping, and structured ACMG evaluation.
TTN missense ≠ benign by default - context matters.
#CardioGenetics #InheritedHeartDisease
Key Point:
TTN missense require careful integration of clinical phenotyping, and structured ACMG evaluation.
TTN missense ≠ benign by default - context matters.
#CardioGenetics #InheritedHeartDisease
February 16, 2026 at 3:54 AM
Present our work on a #TTN_missense variant as the cause of familial #DCM at #LorneGenome2026.
Key Point:
TTN missense require careful integration of clinical phenotyping, and structured ACMG evaluation.
TTN missense ≠ benign by default - context matters.
#CardioGenetics #InheritedHeartDisease
Key Point:
TTN missense require careful integration of clinical phenotyping, and structured ACMG evaluation.
TTN missense ≠ benign by default - context matters.
#CardioGenetics #InheritedHeartDisease
👥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
👥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...
