Angeliki Pantazi

AlphaGenome is out in @nature.com today along with model weights! 🧬

📄 Paper: www.nature.com/articles/s41...

💻 Weights: github.com/google-deepm...

Getting here wasn’t a straight path. We discussed the story behind the model, paper & API in the following roundtable: youtu.be/V8lhUqKqzUc

Proteome-wide model for human disease genetics Nature Genetics - popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.

popEVE is out in Nature Genetics! 🎉
We built a proteome-wide model that combines cross-species and human population variation to rank missense variants by disease severity and help diagnose rare genetic disorders.
rdcu.be/eRu7K

Genomics: A strategic advantage for Canada in the AI era - The Logic Experts say digitizing biology through genomics and AI can revolutionize how industries operate. Here’s how Canada can lead this high-impact use of AI globally

New in @thelogic.co: Experts say digitizing biology through #genomics and #AI can revolutionize how industries operate. Here’s how Canada can lead this high-impact use of AI globally. bit.ly/49F6FtX

🚀 Exciting MSc opp @ UManitoba! Join 2 interdisciplinary labs (bioinformatics + cancer bio) on a CIHR-funded ovarian cancer project. Gain hands-on training in single-cell genomics & molecular biology. See advertisement to apply #GradResearch #Cancer

The life-saving secrets in your baby's DNA What if we could get a heads-up about serious health issues before they begin, from the moment a baby is born? In this groundbreaking talk, medical geneticist and physician-scientist Robert C. Green s...

The life-saving secrets in your baby's DNA (Robert C. Green | TED2025) go.ted.com/WGcSU

Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research Analysis of 230,016 genomes in the All of Us Research Program revealed substantial variation in continental and subcontinental ancestry within self-reported race and ethnicity across the US. Subcontin...

Self-reported race is NOT a proxy for genetic ancestry. Don't ever use it that way, even "approximately". www.cell.com/ajhg/fulltex...

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection More than 50% of families with suspected rare monogenic diseases remain unsolved after whole genome analysis by short read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnosti...

Research highlights how long-read sequencing is helping close the diagnostic gap for rare diseases.

Using a nanopore-based pipeline, researchers resolved 11 rare disease cases, uncovering variants and epigenetic changes missed by short-read approaches.

www.medrxiv.org/content/10.1...

A sincere thank you to all participants for contributing to an engaging and inspiring #BioNet2025. We look forward to seeing you again next year at #BioNet2026 #bioinformatics #omics @zovoilislab.bsky.social

Canada’s genomics community is rising to the challenge.

➡️ We’re sequencing 100K human genomes in 4 years to give researchers and innovators the data they need to transform health care.

Learn how the diversity of the dataset we build will set Canada apart as a global leader in #PrecisionHealth.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease - Genome Medicine Background Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpre...

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!!

link.springer.com/article/10.1...

Key points (A 🧵):

Five UM scholars named among Canada’s Most Powerful Women - University Affairs ‘I like to think that a powerful woman is one who has the wherewithal to bring out the best in those she leads, mentors, and serves.’

Congratulations to all including the five amazing scholars at the @umanitoba for being named among the most powerful women in Canada. We're proud of our strong relationship with U of M, and applaud the continuing growth of female leaders across 🇨🇦

universityaffairs.ca/news/five-um...

Very exciting times to work on #PrecisionHealth in Canada!

The future of health care is personal. The $200M Canadian Precision Health Initiative will deliver the AI-powered genomic data Canada needs to deliver more personalized, preventative and cost-effective health care.

Major #CdnHealth news 📣 – We are proud to announce the $200M Canadian Precision Health Initiative: a landmark collaboration sequencing 100,000+ human genomes to deliver more personalized and effective health care. bit.ly/41G5VAs

📢Join us at the 5️⃣th Annual BioNet Conference #BioNet2025 in May in Calgary! 📍
Connect with #bioinformatics experts, explore groundbreaking ideas, and engage in insightful discussions.
🗓️ Save the date! Register now: bionet-meeting.org/registration

Looking for a faculty position? How about a postdoc position?

Canadian Women in STEM launches an easy to use Job Board.

canadianwomeninstem.org/job-board/

Come be my colleague! We are hiring very broadly in cancer biology. Great colleagues and department, lots of support, sure the winter is cold but our hearts are warm!

🚨We're hiring! 🚨

BMG is seeking an Assistant/Associate Professor with expertise in Cancer Biology—focusing on genetics and/or biochemistry.

📅 Application review begins March 31, 2025.

🔗More info: viprecprod.ad.umanitoba.ca/DEFAULT.ASPX...

Great opportunity for an Assistant/Associate Professor position in #CancerBiology in the Department of Biochemistry & Medical Genetics at the University of Manitoba. Supportive environment and Winnipeg is a great and affordable city!
bit.ly/4gKnmnS

📢 Our Department @umbmg.bsky.social is Hiring! 🎓
Join our team as an Assistant/Associate Professor in #Cancer Biology at @umanitoba.bsky.social! Contribute to research, teaching, and innovation in a dynamic academic environment.
🔗 More details & apply here: viprecprod.ad.umanitoba.ca/DEFAULT.ASPX...

The strategy pledges $175M over seven years for genomics in Canada!

CGS investments in Genome Canada will accelerate adoption and commercialization of cutting-edge genomics technologies and leverage AI-powered data for a healthier, more prosperous and resilient Canada. 🧬

#BioNet2025 #bioinformatics

Challenges and opportunities for digital twins in precision medicine from a complex systems perspective - npj Digital Medicine npj Digital Medicine - Challenges and opportunities for digital twins in precision medicine from a complex systems perspective

Challenges and opportunities for digital twins in precision medicine from a complex systems perspective www.nature.com/articles/s41... #bioinformatics #datascience #digitaltwins

Max Rady College of Medicine | University of Manitoba - Department of Biochemistry and Medical Genetics Biochemistry is the study of the chemistry within all living organisms. Through innovative research and scholarship, we are working to understand, prevent and treat disease, including genetic disorder...

The Department of Biochemistry and Medical Genetics at the University of Manitoba is excited to join BlueSky!

Follow us for updates on our groundbreaking research, departmental achievements, and latest developments in the field!

Find out more about more here: umanitoba.ca/medicine/dep...

Recommendations for Bioinformatics in Clinical Practice https://www.biorxiv.org/content/10.1101/2024.11.23.624993v1 🧬🖥️🧪

Bluesky is the new destination for X/Twitter’s health and science community. Here's why #MedTwitter is migrating en masse from X to Bluesky, suddenly making it an essential hub for scientific discourse. Here's why.

Bluesky is the new destination for X/Twitter’s health and science community. Here’s why www.statnews.com/2024/11/21/b...

WHO releases new principles for ethical human genomic data collection and sharing The World Health Organization (WHO) has issued a set of principles for the ethical collection, access, use and sharing of human genomic data. Created with guidance from the WHO Technical Advisory Grou...

Great to see the WHO's Genomics Program launch principles for ethical human #genome data management, covering collection, access, use, and sharing.

These principles are crucial for guiding #genomic data use worldwide, especially in Latin American and LMICs 🧬🌎
www.who.int/news/item/20...

For all #bioinformatics and #omics people in Western Canada and beyond: I know your spring conference calendars are filling up so #savethedate May 7-9 2025 for the 5th Annual BioNet Conference at Calgary's new Arthur J.E. Child Comprehensive Cancer Centre. More info to follow! #BioNet2025