New episode!

#JamesLu, co-founder and CEO of Helix, tells us what his company is doing to make genomics part of the standard portfolio of health-care data.

#ontarget #precisionmedicine #genomics #helix #populationhealth #clinicalgenomics #GLP1 #moleculardiagnostics #healthcareinnovation

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

Clinical long-read genome sequencing for rare disease diagnostics Background Diagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-...

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

Broad Discovery Series The Broad Discovery Series brings researchers to the stage to discuss and answer questions about some of the most pressing topics in science and medicine today.

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

Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare Genetic variation is crucial in human development, disease susceptibility, and drug response. Despite populations of African descent having the highest degree of genetic variation, genetic research ha...

#ClinicalGenomics #AfricanDiasporas
www.medrxiv.org/content/10.1...

🚨 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

MolecularDefinition - FHIR - Confluence

🧬 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.

Golden Helix: Charting Our 2025 Strategy We just wrapped up a dynamic and rewarding 2024. Hence, we want to take a moment to celebrate key milestones that have set the stage for our next chapter. This year, we pushed our solutions to new fro...

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...

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications medRxiv - The Preprint Server for Health Sciences

🧬🖥️ 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