Peter Castaldi
@peter4244
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Genomics and Smoking-Related Disease, Boston sports
Joined September 2014
Dupilumab approved in US and China today, first biologic ever in #COPD. Truly groundbreaking moment for patients with COPD, many of whom stand to gain from this incredible advance in science. Congrats @sanofi and @Regeneron. Grateful to have been a small part of this journey!
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Register to the second COPD-iNet Symposium-Curing COPD Together- deadline October 15 https://t.co/ElNBG4aKD3
site.thoracic.org
The American Thoracic Society is the world's leading medical society dedicated to accelerating the advancement of global respiratory health through…
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#MLCB2024 kicks off in 22h (9am PST) with keynote from @zhou_jian on DL for transcriptional initiation! Full schedule at https://t.co/0LM2hEb1yh and public livestream at https://t.co/JdxyMbDlNk. Please RT!
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🫁 Join us at the @copd_inet Symposium this November in Boston. Network with the world's foremost scientists in COPD research. Limited spots for attendees. Register here #BostonSymposium
https://t.co/rvIn86e4SI
#COPD2024 #COPDiNET
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Final final note (maybe). https://t.co/E3GJKAmdod
Quick note here. I do think a major driver of this result is that our custom 460 gene panel maximized our optical budget and we target a sizable number of highly expressed genes. The total counts from our custom panel are almost double what we saw with a base + add on.
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You know those times when you come out of a theater and just know that film would win Best Picture…this is the human genetics equivalent. I’m not prone to hyperbole but cannot remember the last time I was this impressed by a genetics manuscript. Congratulations!
Excited to share this discovery: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life, acquiring toxicity only when quite long (>150 CAGs).
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Review of evidence from COPD GWAS and single cell studies that points to the importance of lung repair/regeneration as a driving mechanism of COPD. Very enjoyable collaboration with @maorsauler
https://t.co/xvvOX6AyDx
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Mike Love et al's DESeq2 paper from the same year is also a great article for those being introduced to RNA-seq data
genomebiology.biomedcentral.com
In comparative high-throughput sequencing assays, a fundamental task is the analysis of count data, such as read counts per gene in RNA-seq, for evidence of systematic changes across experimental...
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Very excited to see our review “Precision Approaches to COPD Management” published in Annual Reviews of Medicine. We lay out clinical advances in COPD precision medicine and discuss how state-of-the-art genomics can push the field forward. https://t.co/KF4SPhhIED
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Join our lab! Apply for our Scientist II position at the following link! https://t.co/8MEU3CBwGN
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Some recent discussions about mechanistic versus black-box models in biology reminds me of Leo Breiman's 2001 paper on "The Two Cultures"; a dilemma that seems particularly relevant in the transformer/LLM age. A short thread with some notes:
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Great work @zhangjz07 @BUPulmonary
I'm excited to share our work on genetic risk and "early" COPD (COPD in young people) recently published @ERSpublications. Many thanks to @MattMollpulmccm, @BrianDHobbs and @mikecho95 for mentoring, and to all the coauthors!
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Nice to see work focusing on how COPD impacts the lives of people with the disease. Powerful to hear people describe things in their own words.
Individuals with #COPD were interviewed during the onset of an exacerbation that was being managed at home. Read what was learned about their needs, perceptions, and the impact of the event in the Journal of the COPD Foundation: https://t.co/SHWVYWOfXZ
#MedTwitter
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3) many of these biomarkers were also associated with prospective outcomes such as overall mortality, respiratory mortality, loss of lung function, respiratory exacerbations, and incident cardiovascular disease
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2) As seen previously the molecular response to cigarettes is more vigorous than to ENDS, but ENDS biomarkers were detectable and likely more will be found with larger samples in the future
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1) >100 potential biomarkers identified at 10% FDR. Many more for dual use than vaping, though some vaping-specific biomarkers were identified
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Our most recent preprint on RNA and proteomic biomarkers of e-cig and dual use is now up. Thanks to @crottyalexander and others who worked with us on this. https://t.co/yfqHmn4k7u Brief summary below
medrxiv.org
Introduction Electronic nicotine delivery systems (ENDS) are driving an epidemic of vaping. Identifying biomarkers of vaping and dual use (concurrent vaping and smoking), will facilitate studies of...
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Neat paper on interpretation of SNP-based PCAs. Also a good example of insightful interpretation of unsupervised machine learning on 'omics data and relevant limitations of trying to do that. https://t.co/bbTczk9kCF
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Overview of long-read sequencing in the characterization of GWAS splicing variants. Fun to work with @GSheynkman @ArbyAbood and Charles Farber on this. https://t.co/3cg0GNk7rr
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Excited to share our paper, out today in @Nature, where we characterize transcriptome variation in human tissues by long-read sequencing. Huge thanks to @g_dafni @beryl_bbc Garrett Garborcauskas @dgmacarthur and other collaborators. 🧵 https://t.co/NbQuy0cJWF
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