Latest posts tagged with #ACMG on Bluesky
Their work explores how expanded carrier screening is moving beyond traditional reproductive planning to inform a wider range of clinical decisions, highlighting its growing value across the lifespan. 🔬💡 #maternalfetal #ACMG #obgyn
Nabsys: Snow or rain in the forecast? We’ve got you covered - literally. Stop by our booth #2007 and grab an umbrella before heading out!
👉 Visit us on the trade show floor or book a meeting with us: hubs.ly/Q046BKDj0
#ACMG #ACMG26 #ACMGMtg26 #GenomicResearch #EGM
Good vibes in Baltimore today!
#ACMGMtg26 #Goldenhelix #PrecisionMedicine #EnterpriseGenomics #medicalgenetics #ACMG
Heading to ACMG 2026 in Baltimore?
Visit PacBio at booth #2321 to see how HiFi sequencing is redefining genetic testing. Learn about the Vega system and how to consolidate assays for rare disease and PGx research.
Full program here: bit.ly/3OBZmee
#ACMGMtg26 #PacBio #HiFisequencing #ACMG
Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG www.sciencedirect.com/science/arti...
Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics #RareDisease #ACMG www.sciencedirect.com/science/arti...
We analyzed 17 BRCA1 and BRCA2 variants associated with hereditary breast and ovarian cancer to evaluate their impact on RNA splicing. Eight variants showed aberrant splicing, while nine had no spliceogenic effect, enabling improved variant classification. 🔬 This work contributes to refining the clinical interpretation of BRCA1 and BRCA2 variants and highlights the importance of combining experimental and computational evidence for genetic risk assessment. https://academic.oup.com/clinchem/advance-article/doi/10.1093/clinchem/hvaf177/8416539. https://doi.org/10.1093/clinchem/hvaf177. Epub ahead of print. PMID: 41499258.
✨ We are starting the year with great news! 🎉 Our new paper titled "Splicing predictions, splicing assays and variant classification using ACMG/AMP guidelines: challenges observed with BRCA1 and BRCA2 variants" has been published. 🧬
#Genetics #BRCA #HereditaryCancer #Splicing #ACMG #Research
Join the Celebration: 2026 Medical Genetics Awareness Week Focuses on Collaborative Impact #USA #Bethesda #ACMG #genomic_medicine #Medical_Genetics
Leadership Transition at ACMG: Melanie Wells Stepping Down as CEO #United_States #Bethesda #ACMG #Genetic_Medicine #Melanie_Wells
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 #RareDisease #Genetics #ClinGen #ACMG www.sciencedirect.com/science/arti...
Newborn Screening Coalition Established by ACMG to Enhance National Standards #USA #healthcare #Bethesda #ACMG #newborn_screening
Happy to share that 𝚊𝚌𝚖𝚐𝚜𝚌𝚊𝚕𝚎𝚛 is now on CRAN! 🎉
This means long-term stability and easy installation with:
𝚒𝚗𝚜𝚝𝚊𝚕𝚕.𝚙𝚊𝚌𝚔𝚊𝚐𝚎𝚜('𝚊𝚌𝚖𝚐𝚜𝚌𝚊𝚕𝚎𝚛')
🗞️ doi.org/10.1093/bioi...
#rstats #acmg #varianteffect #MAVEs #VEPs #genomics
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants #RareDisease #Genetics #ACMG #ClinGen www.cell.com/ajhg/fulltex...
ACMG has officially endorsed the Access to Genetic Counselor Services Act, marking an important step forward for the genetics community & efforts to expand patient access to genetic counseling. Here’s to moving the field forward together! #precisionmedicine #genechat #ACMG #NSGC
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG www.sciencedirect.com/science/arti...
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar #RareDisease #Genetics #ACMG #ClinGen #VECP #PAH onlinelibrary.wiley.com/doi/10.1155/...
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
2025 - ACMG Policy Statement with updated list of 84 genes (ACMG SF v3.3) #RareDisease #Genetics #ACMG #ClinGen #SecondaryFindings search.clinicalgenome.org/kb/genes/acm...
A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG www.sciencedirect.com/science/arti...
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature #RareDisease #Genetics #ACMG #SecondarFindings #HereditaryCancer link.springer.com/article/10.1...
Updated ACMG/AMP Specifications for Variant Interpretation and Gene Curations from the ClinGen RASopathy Expert Panels #RareDisease #Genetics #ACMG #ClinGen www.gimopen.org/article/S294...
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence #RareDisease #Genetics #BRCA1 #ACMG www.cell.com/ajhg/fulltex...
“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
A recent federal court finds that the FDA lacks authority to regulate LDTs, reinforcing that these fall under CLIA as professional medical services—not medical devices.
Bitscopic will continue to support our lab partners as this landscape evolves. #LDTs #CLIA #ACMG
Come see me at #ACMGMtg25 #ACMG P636: Implementing Structural Variant Analysis in Codicem, A Comprehensive Clinical Variant Analysis Platform
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
Come meet @pacbio.bsky.social Jocelyne Bruand this morning during the @theacmg.bsky.social poster session as she presents “Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research.” Poster #340. #PacBio #ACMG #ACMGMtg25
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
At noon today, @pacbio.bsky.social Xiao Chen will be presenting "Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat" at @theacmg.bsky.social in Petree Hall D. #PacBio #ACMG #ACMGMtg25
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
