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I am pleased to announce that our research on transcriptomic data analysis of XLMTM has been published today in @AJHGNews ! A collaborative effort between @AstellasGeneTx , @BUnimore, and several others. 📰:cell.com/ajhg/fulltext/S0002…
📢New @AJHGNews
📰High-throughput transcriptome analyses from #ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
🧑🤝🧑@gaiaandreoletti & colleagues
👇
cell.com/ajhg/fulltext/S0002…
Gaia Andreoletti, PhD retweeted
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!!!!!
Gaia Andreoletti, PhD retweeted
A deep catalogue of protein-coding variation in 983,578 (‼️) individuals nature.com/articles/s41586-0… 🧬🖥️ rdcu.be/dIweL
Enjoyed a wonderful evening at @UCSF_BCHSI , supporting endometriosis awareness while watching the impactful film @EndoWhat
Today (Wed., 3/6) at 5pm w/ light refreshments at Byers- all welcome! "Below the Belt" film screening and panel calendar.ucsf.edu/event/belo… UCSF-Stanford Endometriosis Center for Discovery, Innovation, Training and Community Outreach (ENACT) @UCSF_ObGynRS @msirota84 @tomiko22
Gaia Andreoletti, PhD retweeted
Today (Wed., 3/6) at 5pm w/ light refreshments at Byers- all welcome! "Below the Belt" film screening and panel calendar.ucsf.edu/event/belo… UCSF-Stanford Endometriosis Center for Discovery, Innovation, Training and Community Outreach (ENACT) @UCSF_ObGynRS @msirota84 @tomiko22
Gaia Andreoletti, PhD retweeted
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… @UoS_Medicine @ProfDBaralle @FoulkesFdn
Gaia Andreoletti, PhD retweeted
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.…
1/n
Gaia Andreoletti, PhD retweeted
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…
Gaia Andreoletti, PhD retweeted
Thank you to all of our collaborators
@golob @tomiko22 @AliceTang_mstp
@AlennieRol @NimaAghaeepour
@AdiTarca @gaiaandreoletti @iditkosti @PatriDiazGimeno @SirotaLab @DR_E_A_M
and so many others as well as @MarchofDimes
for support. Press release here: marchofdimes.org/about/news/…
Gaia Andreoletti, PhD retweeted
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?
Gaia Andreoletti, PhD retweeted
We are so excited to share our work, a collaboration of over 50 authors led by @golob and @tomiko22 leveraging public microbiome data and crowdsourcing approaches to predict preterm birth, published in @CellRepMed today: cell.com/cell-reports-medici… @UCSFPrecision @UCSF_BCHSI
Gaia Andreoletti, PhD retweeted
We're looking for a new post-doc to work on complex disease #Genomics especially #IBD @unisouthampton
Great team working towards improved understanding + clinical prediction with genomic data, for patient benefit
At the @SotonChildHosp @UHSFT site
jobs.soton.ac.uk/Vacancy.asp…
Gaia Andreoletti, PhD retweeted
📢New @AJHGNews
📰High-throughput transcriptome analyses from #ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
🧑🤝🧑@gaiaandreoletti & colleagues
👇
cell.com/ajhg/fulltext/S0002…
Gaia Andreoletti, PhD retweeted
HUGE thanks🙏 to our Bio in AI Industry Panelists Gaia Andreoletti @gaiaandreoletti, Natalie Casey, Maya Gonzalez, Idit Kosti @iditkosti, Sofia Kyriazopoulou-Panagiotopoulou + Katharine Yu!👏 We appreciate you all for sharing your time, insights, & experience with our students!🧑🎓
Gaia Andreoletti, PhD retweeted
Can't wait for someone to use this now finalized guidance from @US_FDA
on umbrella trials in #AAV #GeneTherapy! Test multiple iterations of your therapy in one multi-arm Ph1!
raps.org/news-and-articles/n…
Gaia Andreoletti, PhD retweeted
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
Gaia Andreoletti, PhD retweeted
Replying to @gaiaandreoletti
@gaiaandreoletti from @AstellasGeneTx show promising results for their therapeutic for X-linked myotubular myopathy. #ASHG22 #AAV #genereplacement #GeneTherapy
Gaia Andreoletti, PhD retweeted
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
@vikaspejaver presenting on local posterior probability and how it could be used as a tool to calibrate prediction for clinical use.


























