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What an epic way to usher in a new era of #sequencing and the announcement of our two new systems, Revio and Onso, with an amazing performance by Maroon 5! #PacBio #ASHG22

Gaia Andreoletti, PhD from @AstellasGeneTx show promising results for their therapeutic for X-linked myotubular myopathy. #ASHG22 #AAV #genereplacement #GeneTherapy

RT: txt2hpo does semantic analysis of clinical notes and transforms them into Human Phenotype Ontology annotations, with spelling correction and negation detection [cool!] #ASHG22 github.com/GeneDx/txt2hpo

Can't wait for someone to use this now finalized guidance from U.S. FDA on umbrella trials in #AAV #GeneTherapy! Test multiple iterations of your therapy in one multi-arm Ph1! raps.org/news-and-artic…

HUGE thanks🙏 to our Bio in AI Industry Panelists Gaia Andreoletti Gaia Andreoletti, PhD, Natalie Casey, Maya Gonzalez, Idit Kosti Idit Kosti, Sofia Kyriazopoulou-Panagiotopoulou + Katharine Yu!👏 We appreciate you all for sharing your time, insights, & experience with our students!🧑‍🎓

📢New AJHG 📰High-throughput transcriptome analyses from #ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy 🧑‍🤝‍🧑Gaia Andreoletti, PhD & colleagues 👇 cell.com/ajhg/fulltext/…

We're looking for a new post-doc to work on complex disease #Genomics especially #IBD University of Southampton Great team working towards improved understanding + clinical prediction with genomic data, for patient benefit At the Southampton Children's Hospital University Hospital Southampton 💙 site jobs.soton.ac.uk/Vacancy.aspx?i…

What makes a great AI/ML prediction in healthcare? I have four things I consider: 1. Is the prediction clinically meaningful and actionable? 2. Is the prediction robust? 3. Is the prediction generalizable? 4. Is the prediction reproducible?

We are so excited to share our work, a collaboration of over 50 authors led by Jonathan Golob, MD PhD and tomiko oskotsky leveraging public microbiome data and crowdsourcing approaches to predict preterm birth, published in Cell Reports Medicine today: cell.com/cell-reports-m… UCSF Precision Medicine UCSF Bakar Computational Health Sciences Institute

Thank you to all of our collaborators Jonathan Golob, MD PhD tomiko oskotsky Alice Summer Tang alennie Nima Aghaeepour Adi Tarca Gaia Andreoletti, PhD Idit Kosti Patricia Diaz-Gimeno Sirota Lab at UCSF DREAMchallenges and so many others as well as March of Dimes for support. Press release here: marchofdimes.org/about/news/mar…

Database of 316 funding opportunities/fellowships for POSTDOC fellows. For each entry, we provide description, link to funder, deadline, $ amount, discipline/field, and eligibility criteria (e.g. citizenship). Download it here: research.jhu.edu/rdt/funding-op…

The CAGI flagship paper establishes progress and prospects for computational genetic variant interpretation methods. It draws conclusions from the first 10 years of CAGI assessments genomebiology.biomedcentral.com/articles/10.11… 1/n

I am delighted to share my latest first author publication: A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project - Genetics in Medicine gimjournal.org/article/S1098-… Southampton Medicine Diana Baralle The Foulkes Foundation

Today (Wed., 3/6) at 5pm w/ light refreshments at Byers- all welcome! "Below the Belt" film screening and panel calendar.ucsf.edu/event/below_th… UCSF-Stanford Endometriosis Center for Discovery,  Innovation, Training and Community Outreach (ENACT) UCSF Obstetrics Gynecology & Reproductive Sciences Marina Sirota tomiko oskotsky

Enjoyed a wonderful evening at UCSF Bakar Computational Health Sciences Institute , supporting endometriosis awareness while watching the impactful film Endo What?

A deep catalogue of protein-coding variation in 983,578 (‼️) individuals nature.com/articles/s4158… 🧬🖥️ rdcu.be/dIweL

It took me SEVEN years to figure out that you can save a ggplot as a vectorized .svg file ggsave("file.svg"). The svg file can be opened on powerpoint and it will be completely vectorized, even text are still recognized as text boxes! No more recreating plots on illustrator!!!!!