Latest posts tagged with #ClinicalGenomics on Bluesky
Last day of #AGBT2026 🚀
We’re in the Palm Beach Suite until 11:00 AM — your final chance to stop by.
See DNBSEQ-T1+ and DNBSEQ-T7+ up close, meet the team, and talk applications, workflows, and data.
See you in the suite.
#Genomics #DNBSEQ #ClinicalGenomics
#AGBT2026 is in full swing 🚀
Stop by the Palm Beach Suite to see DNBSEQ-T1+ and the new DNBSEQ-T7+ up close. Meet the team and talk clinical sequencing, bioinformatics, and your data workflows.
🏁 Final chance to race and claim the podium.
#Genomics #DNBSEQ #ClinicalGenomics
Variant calling is fun… until pseudogenes show up and cause chaos. 😈🧬
#Bioinformatics seminar this Friday: Yasir Kusay (SA Pathology) on how pseudogenes trip up PRSS1/2 + IKBKG diagnosis.
Feb 20 | 1pm – 2-ish
Reach out for Zoom or location details.
#ClinicalGenomics #Adelaide #SAPath
A 1,000-sample Radboud study shows HiFi WGS can help replace multiple clinical tests while enabling an increase in diagnostic findings, pointing to clear evidence that long reads are on track for first-line use.
Ready the study here: bit.ly/4jUxEF9
#PacBio #HiFisequencing #ClinicalGenomics
Genomic sequencing has gotten so fast, so inexpensive, and so rich in information, what if it could be part of our everyday medical care? Come hear what Niall Lennon thinks at the next Broad Discovery Series talk! #clinicalgenomics #precisionmedicine broadinstitute.swoogo.com/Discovery25
🚨 Last call! Our webinar is tomorrow.
Learn how leading labs are implementing #HiFisequencing to close gaps left by short reads, reveal hidden variants, and bring greater accuracy and scalability to #ClinicalGenomics.
Secure your spot: bit.ly/4mUAVEc
#PacBio
Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice. #ClinicalGenomics #UltraFastWGS #PediatricCancer #WGS @medrxivpreprint.bsky.social
www.medrxiv.org/content/10.1...
Grateful to the UKSH Genome Consortium and all collaborators. #RareDisease #Genomics #WholeGenomeSequencing #TrioSequencing #ClinicalGenomics #GenomeMedicine #Diagnostics #GeneticTesting
www.uksh.de/Das+UKSH/Neu...
✨ What an incredible few days at HGSA 2025! ✨
Thank you to everyone who connected with us.
Your energy inspires us to keep enabling discovery. See you next year!
#ClinicalGenomics #Genomics #GeneticResearch #EnablingDiscovery
HGSA 2025 is here!
🔹 Meet Daina, Chris & Ain — Booths 34 & 35
🔹 Explore genomics & clinical workflows w/ @twistbioscience.com , Franklin, MGI & Bionano
🔹 Live CNV demo: microarrays + NGS
#ClinicalGenomics #Genomics #EnablingDiscovery
AI-HOPE: An AI-Driven conversational agent for enhanced clinical and genomic data integration in precision medicine research. #AI #ClinicalGenomics #DataIntegration #Bioinformatics #Genomics
academic.oup.com/bioinformati...
Berry Genomics is transforming single-gene disorder testing in China with #HiFisequencing. Their Thalassemia assay has boosted diagnosis rates and is now powered by the #Vega system.
Read the full story: bit.ly/4iOussj
#PacBio #ClinicalGenomics
StrataRisk™ PRS enables CLIA/CAP labs performing gene panel or genome diagnostics to seamlessly integrate PRS into their workflow. Combining gene panel testing & PRS provides a comprehensive risk assessment, capturing both rare and common variants. #ClinicalGenomics 4/7
StrataRisk™ PRS enables CLIA/CAP labs performing gene panel or genome diagnostics to seamlessly integrate PRS into their workflow. Combining gene panel testing & PRS provides a comprehensive risk assessment, capturing both rare and common variants. #ClinicalGenomics 4/7
Are you up to date on the latest breakthrough in brain and spinal tumor diagnostics and genomics reporting?
New webinar alert!
April 9, 2025 - 1:00PM Eastern/10AM Pacific
To register visit: bit.ly/3DPgYOw
#LiquidBiopsy #NeuroOncology #PrecisionMedicine #ClinicalGenomics #CancerDiagnostics
Golden Helix Partners with the Danish Healthcare Regions
We're thrilled to announce a multi-year partnership with all Danish healthcare regions, advancing precision medicine on a national scale!
Read more: yhoo.it/3FfdB3P
#PrecisionMedicine #Genomics #ClinicalGenomics #NGS
🧬 One is #MolecularDefinition from the #ClinicalGenomics working group: confluence.hl7.org/spaces/FHIR/...
It is intended to represent genetic data for clinical use, focusing on computable structures. It supports genomic testing and integrates with Observation and Genomic Study resources.
We have just wrapped up a dynamic 2024. Please read my blog for more details on our strategy for the new year.
Here’s to an outstanding 2025!
#GoldenHelix #ClinicalGenomics #PrecisionMedicine #Cancer #Pharmacogenomics #BYOC #NGS #ISO13485 #CEMark
www.goldenhelix.com/blog/golden-...
Source: https://www.biorxiv.org/content/10.1101/2024.11.23.624993v1 Figure 1. Overview of the Nordic Alliance for Clinical Genomics (NACG) community. A. Geographic distribution of NACG sites: a map illustrating the 12 member sites of NACG network and one guest site from The Netherlands. B. Annual analysis volume per site: a bar chart depicting the volume of analyses performed per year across NACG sites. C. Genome reference build usage: a summary of genome reference build statistics across the 13 participant sites. D. Details of pipelines in clinical production on a matrix plot: the y-axis shows the type of 10 analysis, and the x-axis shows the type of variant or metric reported. Bubble size reflects the number of sites in each intersection category. The colour legend is the same as in panel B.
Recommendations for Bioinformatics in Clinical Practice. #NordicAllianceForClinicalGenomics #StandardisedBioinformaticsractices #Bioinformatics #ClinicalGenomics #Genomics @biorxivpreprint.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...
🧬🖥️ Our latest manuscript, “Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications,” is now on medRxiv! bit.ly/46exbqh #Genomics #WGS #CNV #ClinicalGenomics #medRxiv
Interested in #nanopore sequencing, #ClinicalGenomics, #bioinformatics, #deeplearning, #rna modifications?
We are looking for #stem students to join the #genomic #technologies program @kinghorngenomes & @GarvanInstitute
https://tinyurl.com/y9j4fnan
