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Posts tagged #HumanGenomics

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Choose your human genome reference wisely - Nature Methods Scientists can choose between multiple human genome references, and a pangenome reference is coming. Deciding what to use when is not quite straightforward.

As new human assemblies become available on beta.ensembl.org - which human reference genome will you choose? This article explores the question with insights from Ensembl’s own Fergal Martin - www.nature.com/articles/s41...

#HumanGenomics #Pangenomes #ReferenceGenomes

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Biosovereignty The Genetic Commons, Health Data, and the Geopolitics of the Body

Biosovereignty open.substack.com/pub/augurnom... #Biosovereignty #Bioethics #DataSovereignty #HumanGenomics #Biotechnology #LifeSciences #PublicHealthPolicy #PrecisionMedicine #HumanRights #DigitalEthics #Sustainability #SystemsThinking #HealthData #EthicalAI #DataPrivacy #FutureOfHumanity

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🚨TALK 🚨 Should Genomics change our personal conceptions of race?

Join us online for this talk by Sarah Abel on Nov 4th. Registration link below.

#humangenomics #philsky #philsci #STS #HPBio #STEM

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Genos: A Human-Centric Genomic Foundation Model. #GenomicFoundationModels #GFMs #HumanGenomics @gigascience.bsky.social 🧪🧬 🖥️
academic.oup.com/gigascience/...

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#HiFisequencing is the foundation for human reference genomes and pangenomes, providing the accuracy and completeness needed to capture the full spectrum of human genetic variation.

#PacBio #ASHG25 #HumanGenomics

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Big day at #ASHG25!

Visit #PacBio Booth 919 for live Vega demos and to enter our Labubu drawing. Catch our platform talk in Room 253ABC, Level 2 at 1:30pm and our second CoLab session in Theater 2 at 2:30pm.

See our full ASHG program here: bit.ly/4nmBnfn

#HumanGenomics #ASHG #HiFisequencing #Vega

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Fantastic discussions at our #ASHG25 CoLab on how #PacBio PureTarget is enabling PCR-free HiFi sequencing of challenging genes.

From high-throughput germline diagnostics to custom disease panels, researchers are pushing the boundaries of genomic insights.

#HumanGenomics #ASHG #HiFisequencing

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Jon Belyeu from #PacBio showcases how to visualize segmental duplication regions using Paraviewer.

Catch it now during #ASHG25 at poster 4109!

#HiFisequencing #HumanGenomics #ASHG

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Reminder: Our first #ASHG25 CoLab starts in one hour in CoLab Theater 1!

Hear from GeneDx and University of Michigan on how #PacBio PureTarget enables PCR-free HiFi sequencing for challenging genes, germline diagnostics, and disease research panels. Don’t miss out!

#ASHG2025 #HumanGenomics #ASHG

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Attending #ASHG25? Visit #PacBio at booth 919!

Connect with our team, explore live demos of #Vega, and discover the latest in long-read sequencing. While you’re there, enter our daily Labubu drawing!

See the full program here: bit.ly/4nmBnfn

#ASHG #HumanGenomics #ASHG2025

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Who’s excited for #ASHG25 in Boston?

Discover how #PacBio long-read sequencing is driving breakthroughs in #HumanGenomics, from rare disease research to large-scale population studies. The future of genomics is here!

Visit our page to learn more: bit.ly/4nnRGbn

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What’s the point of the Synthetic Human Genome Project? Why are scientists working to recreate the human genome from scratch?

What’s the point of the Synthetic Human Genome Project? #Science #HealthandMedicine #GeneticsandGenomics #SyntheticGenome #GeneticsResearch #HumanGenomics

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#ESHG25 wrap 💡

We were proud to be able to share a glimpse of #EASIGEN-DS work through the team contributions, our poster and materials. Take a look at some highlights below 👇

Small steps that mark progress🚀

#EASIGEN #HumanGenomics #ResearchInfrastructure #HorizonEU

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I've heard there may be a @pacbio.bsky.social party at #ESHG2025 but you'll have to get in early. Visit booth 454 to learn how it starts with #HiFi. Do you want to miss out on the best thing in #HumanGenomics?

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🌍✨ Join us for the 2025 Global Observatory Summit on May 21-23, 2025 in Cambridge, MA and virtual! ✨🌍 Hastings President Vardit Ravitsky will be one of the speakers 🎤; you don’t want to miss this!

🎟️Register now, bit.ly/44T4ssr

#CambridgeSummit2025 #HumanGenomics

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Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues - Human Genomics Non-communicable diseases (NCDs) such as cardiovascular diseases, chronic respiratory diseases, cancers, diabetes, and mental health disorders pose a significant global health challenge, accounting fo...

Science news in #HumanGenomics. Congrats to co-corresponding author Tesfaye Mersha @cincychildrens.bsky.social and colleagues in Australia and the #NICHD! #MedSky @geneticssociety.bsky.social link.springer.com/article/10.1...

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Featured Symposia Questions: programs@ashg.org Looking to make your mark on the ASHG Annual Meeting? Propose a Featured Symposium on a topic that excites you. Our Program Committee is here to provide guidance and suppo...

🚨 Calling human geneticists! 🚨

Featured Symposium & Interactive Workshop submissions for #ASHG2025 are OPEN! 🧬✨

Got cutting-edge research or ideas to share? Now’s the time to showcase them on a global stage. Spread the word & submit! 🌍📝

🔗 www.ashg.org/meetings/202...

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#HumanGenomics #ASHG25

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Senior Lecturer in Human Genomics at Oxford Brookes University An opportunity for an academic position as a Senior Lecturer in Human Genomics is available, as advertised on jobs.ac.uk. Apply now and explore other academic job openings.

Exciting opportunity to join a friendly academic team at Oxford Brookes as a Senior Lecturer in Human Genomics! Pls share and feel free to contact me for further info #AcademicJobs #FacultyPosition #HumanGenomics #GeneticsResearch #GenomicScience

www.jobs.ac.uk/job/DLA420/s...

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Dr @malloryfreeberg.bsky.social, #humangenomics team lead at EMBL-EBI said "...we can learn so much from each other through our collaborations. The meeting significantly strengthened our existing relationships, and I look forward to continuing to grow our global human genomics community."

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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data - Human Genomics This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the cr...

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data. #VariantAnalysis #Epigenetics #ShortRead #LongRead #Sequencing #Genomics #Bioinformatics #BestPractices #HumanGenomics 🧬🖥️
humgenomics.biomedcentral.com/articles/10....

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Analysis of public perceptions on the use of artificial intelligence in genomic medicine | Human Genomics

📣 Out now in #HumanGenomics!

🤔 What do the public think about the use of AI in #genomic medicine?

👉 rdcu.be/d0PLP

Benefits: efficiency ⬆️ errors ⬇️

Concerns: data security 🔐 discrimination

Who would be liable for error? 🤖👩‍⚕️

@genetic-fi.bsky.social Danya Vears & Jack Harrison 👏

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Australian Indigenous genomes are highly diverse and unlike those anywhere else In collecting genomic data for Indigenous Australians, scientists hope to expand knowledge of human genetic diversity and improve health for this group. In collecting genomic data for Indigenous Austr...

📜 Australian Indigenous genomes are highly diverse and unlike those anywhere else

🧑‍🔬 Bianca Nogrady

📔 @natureportfolio.bsky.social

🔗 www.nature.com/articles/d41...

#️⃣ (Feeds) #Australia #FirstAustralians 🇦🇺 #Genomics #HumanGenomics #BiasByGenomics

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'Success stories in genomic medicine from resource-limited countries’ (Mexico included) http://www.humgenomics.com/content/9/1/11/abstract #humangenomics

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