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Alicia Martin

@genetisaur.bsky.social
995 followers 153 following 32 posts

Population and statistical geneticist @MGH/HMS and Broad Institute

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Alicia Martin @genetisaur.bsky.social · 20/07/2026
We used the same Twist capture kit for all samples sequenced
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Alicia Martin @genetisaur.bsky.social · 08/07/2026
So excited to see this published! This method was a long time in the making and is now being widely used to balance scale with depth, especially for participants where unbiased sequencing approaches are so much more useful than arrays
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Satoshi Yoshiji, MD, PhD @satoshiyoshiji.bsky.social · 30/06/2026
NIH All of Us has just released a massive multi-omics dataset, including: • 535K WGS (120K+ added; now larger than UKB) • ~10K proteomics + RNAseq + long-read • ML-curated clinical notes • 68K with Fitbit data Kudos to this great initiative and to the participants for advancing science
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Adam Auton @adamauton.bsky.social · 07/05/2026
Population geneticists! Come work at 23andMe! New role just posted. 23andme.wd5.myworkdayjobs.com/23/job/Palo-...
23andme.wd5.myworkdayjobs.com
Scientist, Population Genetics
23andMe is looking for a quantitative scientist with extensive experience in population genetics and statistical modeling of human genetics data to join our R&D team. You will leverage your expert...
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
See full ad here for full details: www.dropbox.com/scl/fi/i66a5...
dropbox.com
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
If this sounds like you (or someone you know), reach out or DM. Let’s build the next phase of complex trait genetics—one that explains biology and improves health across populations 🌍 scholar.google.com/citations?us...
armartinlab.com
Martin Lab
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
Backgrounds that fit well: statistics 📈 • genetics 🧬 • bioinformatics 👩‍💻 • computational biology 👾 But most important: 👉 curiosity 👉 rigor 👉 interest in translating discovery → mechanism → impact
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
We 𝑐𝑎𝑛’𝑡 do this alone. We’re looking for people excited about: • genomic + EHR-scale data • pleiotropy / multi-trait methods • proteomics / multi-omics • causal inference
media.tenor.com
a man in a suit and bow tie is dancing in a room
Alt: Bill Nye is an enthusiastic scientist dancing in a room. Join us to have as much fun as Bill Nye
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
And importantly: Using longitudinal data, we can move toward: → predicting disease onset → predicting treatment response → resolving biological heterogeneity within diagnoses (i.e., getting beyond one-size-fits-all labels)
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
𝐖𝐡𝐞𝐫𝐞 𝐰𝐞’𝐫𝐞 𝐠𝐨𝐢𝐧𝐠 (𝟐/𝟐): 𝐌𝐮𝐥𝐭𝐢-𝐨𝐦𝐢𝐜 𝐢𝐧𝐭𝐞𝐠𝐫𝐚𝐭𝐢𝐨𝐧 Proteomics sits 𝑐𝑙𝑜𝑠𝑒𝑟 𝑡𝑜 𝑑𝑖𝑠𝑒𝑎𝑠𝑒 and is dynamic. By integrating 𝐠𝐞𝐧𝐨𝐦𝐢𝐜𝐬 + 𝐩𝐫𝐨𝐭𝐞𝐨𝐦𝐢𝐜𝐬, we aim to: • identify causal drivers • discover exposure biomarkers • quantify mediation pathways www.medrxiv.org/content/10.1...
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
Why this matters: Average effect sizes miss biology. 𝐏𝐚𝐭𝐭𝐞𝐫𝐧𝐬 𝐚𝐜𝐫𝐨𝐬𝐬 𝐭𝐫𝐚𝐢𝐭𝐬 𝐚𝐧𝐝 𝐜𝐨𝐧𝐭𝐞𝐱𝐭𝐬 𝐫𝐞𝐯𝐞𝐚𝐥 𝐦𝐞𝐜𝐡𝐚𝐧𝐢𝐬𝐦. We want to map how genetic effects act across: → cell states → developmental stages → disease processes pubmed.ncbi.nlm.nih.gov/41315867/
pubmed.ncbi.nlm.nih.gov
Dissecting pleiotropy to gain mechanistic insights into human disease - PubMed
Pleiotropy is the phenomenon by which a genetic variant affects multiple independent traits. Human genetics studies have identified pervasive pleiotropy throughout the genome and multitrait genome-wid...
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
𝐖𝐡𝐞𝐫𝐞 𝐰𝐞’𝐫𝐞 𝐠𝐨𝐢𝐧𝐠 (𝟏/𝟐): 𝐏𝐥𝐞𝐢𝐨𝐭𝐫𝐨𝐩𝐲 𝐝𝐢𝐬𝐬𝐞𝐜𝐭𝐢𝐨𝐧 Instead of studying traits in isolation, we’re building massive multi-trait GWAS across: • lung function • lung diseases • immune traits (e.g., white blood cells) The goal: identify 𝐜𝐨𝐨𝐫𝐝𝐢𝐧𝐚𝐭𝐞𝐝 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐞𝐟𝐟𝐞𝐜𝐭𝐬 𝐚𝐜𝐫𝐨𝐬𝐬 𝐭𝐫𝐚𝐢𝐭𝐬, 𝐜𝐞𝐥𝐥 𝐭𝐲𝐩𝐞𝐬, 𝐚𝐧𝐝 𝐭𝐢𝐦𝐞
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
𝐇𝐨𝐰 𝐢𝐭 𝐬𝐭𝐚𝐫𝐭𝐞𝐝: We’ve led large-scale genomic discovery across global biobanks—spanning traits like asthma and COPD → Strong shared genetic architecture → Substantial heterogeneity across individuals → Effects are consistent across the life course (but larger early on)
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
Our goal: 𝐜𝐥𝐨𝐬𝐞 𝐭𝐡𝐞 𝐠𝐚𝐩 𝐛𝐞𝐭𝐰𝐞𝐞𝐧 𝐠𝐞𝐧𝐨𝐦𝐢𝐜 𝐝𝐢𝐬𝐜𝐨𝐯𝐞𝐫𝐲 𝐚𝐧𝐝 𝐛𝐢𝐨𝐥𝐨𝐠𝐢𝐜𝐚𝐥 𝐦𝐞𝐜𝐡𝐚𝐧𝐢𝐬𝐦 We focus on diseases where genetics 𝑎𝑛𝑑 environment matter—and where that intersection drives major health disparities (starting with 🫁 diseases). pubmed.ncbi.nlm.nih.gov/36778051/
pubmed.ncbi.nlm.nih.gov
Checking your browser - reCAPTCHA
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Alicia Martin @genetisaur.bsky.social · 29/04/2026
📣 𝐖𝐞’𝐫𝐞 𝐡𝐢𝐫𝐢𝐧𝐠 𝐚 𝐩𝐨𝐬𝐭𝐝𝐨𝐜 𝐢𝐧 𝐩𝐨𝐩𝐮𝐥𝐚𝐭𝐢𝐨𝐧 & 𝐬𝐭𝐚𝐭𝐢𝐬𝐭𝐢𝐜𝐚𝐥 𝐠𝐞𝐧𝐞𝐭𝐢𝐜𝐬! 🌍📈🧬 If you’re finishing a PhD (or know someone who is) and want to work on complex trait biology + 𝑟𝑒𝑎𝑙-𝑤𝑜𝑟𝑙𝑑 𝑖𝑚𝑝𝑎𝑐𝑡, read on 👇
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Ying Wang @yingwangyw.bsky.social · 23/04/2026
🎉New preprint: Phenome-derived polygenic scores and social determinants jointly shape context-dependent disease risk. We evaluate disease risk along 2 complementary axes: • how genetic liability is represented • the social context in which it is expressed
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Alicia Martin @genetisaur.bsky.social · 28/02/2026
Bonus quote during cabin fever from 3 yo: “I like the cold. It’s my favorite color. I also like blue.”
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Alicia Martin @genetisaur.bsky.social · 28/02/2026
Family quarantine complete! 3 yo had flu A and was confined to room with dad caretaking while I took care of 2 month old. Combo tests in the house meant we diagnosed right away, despite weird stomach flu-like symptoms. Tamiflu is a wonder drug if in time! Treated and prophylaxis: no one else sick
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Alicia Martin @genetisaur.bsky.social · 28/11/2025
Interested in pleiotropy dissection but not sure where to start, which methods are useful, which studies offer illustrative examples, or how to robustly validate your results? Look no further 👀 rdcu.be/eSfAZ
rdcu.be
Dissecting pleiotropy to gain mechanistic insights into human disease
Nature Reviews Genetics - Genome-wide association studies of increasing scale have revealed the prevalence of pleiotropic genetic variants that affect multiple traits. In this Review, the authors...
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Konrad @konradjk.bsky.social · 18/09/2025
A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...
nature.com
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics
Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...
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Alicia Martin @genetisaur.bsky.social · 11/09/2025
You are too kind. This was the coolest project I’ve been lucky to work on in a long time, and I’m stoked to continue charging forth in this direction
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Jack Kosmicki @jakphd.bsky.social · 11/09/2025
Kristin Tsuo, @genetisaur.bsky.social, & Mark Daly just wrote the best proteomics paper I've read. They convincingly show how smoking and alcohol (aka, the environment) dramatically influences proteomics data. Some 🤯 results 1) proteomics predicts frequency (5a) & quanity (5b) of alcohol consumed
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Carl Zimmer @carlzimmer.com · 29/08/2025
On the new acting CDC director. www.theguardian.com/us-news/2025...
O’Neill, unlike Monarez, has no training in medicine or infectious disease science. He is a former speechwriter for the health department, during the Bush years, who went on to work for the tech investor and conservative megadonor Peter Thiel.

During the Covid pandemic, O’Neill voiced public support for unproven treatments that were not supported by scientific evidence, including ivermectin and hydroxychloroquine, as well as vitamin D as a supposed “prophylaxis”.

He also posted a number of conspiratorial theories on social media, including the baseless claim that “the name #COVID was chosen to conceal the origin of the virus. This name made it harder to study and probably slowed the response.”
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Alicia Martin @genetisaur.bsky.social · 18/08/2025
I’ve almost entirely managed to switch my to do list to electronic (Todoist app is so helpful and lightweight) which has seriously helped lighten the mental load. My inbox remains an utter dumpster fire that horrifies all who understand my process or lack thereof and welcome all suggestions 😬
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anil oza @aniloza.bsky.social · 05/08/2025
The Govt. Accountability Office issued a report today finding that the Trump admin has violated a law blocking presidents from withholding funding Congress has approved @mmolteni.bsky.social & I break it down: www.statnews.com/2025/08/05/g...
statnews.com
Trump administration violated impoundment law by canceling NIH grants, slowing new awards, GAO finds
The Government Accountability Office found that the Trump administration, by abruptly canceling NIH grants, had violated a 1974 federal law
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Katie Mack @astrokatie.com · 05/08/2025
Every reputable expert I know considers mRNA vaccine technology to be one of the most revolutionary advances in medicine in our lifetimes. Its inventors won the Nobel Prize in 2023. Shutting it down now is pointless self-harm to humanity.
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Alicia Martin @genetisaur.bsky.social · 05/08/2025
Let’s not pretend this ends with Harvard. This will be every American university unless a resounding legal win establishes precedent
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Jeremy Berg @jeremymberg.bsky.social · 01/08/2025
Incredibly well reported deep dive on NIH and health disparities research in STAT. 🧵 www.statnews.com/2025/08/01/n... 1/31
statnews.com
Jay Bhattacharya once studied health disparities. As NIH director, he’s allowed such research to wither
Jay Bhattacharya’s tenure as NIH director has seen health disparities research swept up in the Trump administration’s attack on DEI
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Max Kozlov @maxkozlov.bsky.social · 30/07/2025
The NIH can’t award ANY grants to outside researchers under new WH restriction, reports @wsj.com. The pause came in the form of a footnote from OMB Director Vought, in a document that doles out federal funds to the NIH. Prelude to rescissions, especially after his comments over the weekend?
wsj.com
Trump Administration Puts New Chokehold on Billions in Health-Research Funding
The National Institutes of Health can’t award grants to outside researchers under a new White House restriction.
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Alicia Martin @genetisaur.bsky.social · 29/07/2025
Crate+mat, puppy kindergarten for socialization, endless chew toys that are not your couch, a bed that you might replace every ~6 months. Godspeed with more sleepless nights!
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Kirsten Bibbins-Domingo @kbibbinsdomingo.bsky.social · 25/06/2025
Wonderful tribute to a dear colleague- well worth the read www.ucsf.edu/news/2025/06...
ucsf.edu
UCSF Bioinformatics Pioneer Atul Butte Dies at 55
Atul Butte, who championed the use of big data in science and health care and inspired a generation of trainees at UC San Francisco and beyond to pursue the fields he pioneered — translational and cli...
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Eimear Kenny @eimearekenny.bsky.social · 17/06/2025
📢 Just posted: Our preprint introducing SPC — Spectral Components — is now live on medRxiv! Led by Dr. Ruhollah Shemirani and years in the making, this method offers a robust, scalable way to adjust for recent population structure in genomic analyses. 🔗 www.medrxiv.org/content/10.1... 1/9
medrxiv.org
SPC: a SPectral Component approach to address recent population structure in genomic analysis
Population structure is a well-known confounder in statistical genetics, particularly in genome-wide association studies (GWAS), where it can lead to inflated test statistics and spurious associations...
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Max Kozlov @maxkozlov.bsky.social · 16/06/2025
🚨 BREAKING: Nearly 4 months the NIH cut its first grants, a judge has ruled that the directives and process that led to cuts are arbitrary and capricious. "The explanations are bereft of reasoning — virtually in their entirety... unsupported by [facts]." Each of them are VOID and ILLEGAL, he says.
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Dr. Lucky Tran @luckytran.com · 09/06/2025
"We are speaking on behalf of hundreds of NIH staff who are standing up together to say: WE DISSENT. I am so scared about doing this but I am trying to be brave for my kids because it's only gonna get harder to speak up." Thank you to Dr. Jenna Norton and NIH scientists for your courage!
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Alicia Martin @genetisaur.bsky.social · 06/06/2025
Was that view prevailing? I think it’s been pretty clear that standard additive models are very hard to beat for PRS for a long time. I’m glad to see this - the idea that interactions are going to solve all our problems seems a little misguided
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Eric Topol @erictopol.bsky.social · 30/05/2025
"Our calculations suggest that the proposed budgetary cuts to the NIH will create a social cost that is 16 times greater than the savings that the administration is attempting to achieve." jamanetwork.com/journals/jam...
jamanetwork.com
Cutting the NIH—The $8 Trillion Health Care Catastrophe
This JAMA Forum discusses the recent budget cuts to National Institutes of Health (NIH), the effects of these cuts on scientific research and health of individuals in the US, and the prospects for cha...
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Alicia Martin @genetisaur.bsky.social · 29/05/2025
We’re seeing something similar in AoU as well. It’s still something we’re trying to fully understand
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Alicia Martin @genetisaur.bsky.social · 29/05/2025
Now published! Congrats Yon Ho on this huge lift conducting dozens of GWAS in Korea and performing meta-analyses with other Asian biobanks reaching a sample size comparable to UK Biobank. The fine-mapping, novel loci, and ancestry-enriched discoveries are very cool. www.nature.com/articles/s41...
nature.com
Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures - Nature Communications
Here the authors identify hundreds of genetic loci linked to 36 traits in East Asians, revealing population-specific associations and emphasizing the importance of diverse ancestry groups in genome-wi...
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Carl Zimmer @carlzimmer.com · 27/05/2025
Statement from the American College of Obstetricians and Gynecologists
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Pete Buttigieg @petebuttigieg.bsky.social · 23/05/2025
America cannot long remain free, nor first among nations, if it becomes the kind of place where universities are dismantled because they don't align politically with the current head of the government.
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Aaron Reichlin-Melnick @reichlinmelnick.bsky.social · 22/05/2025
🚨This is a HUGE escalation and a deliberate effort to use the government against Trump's enemies. Weaponizing the Student and Exchange Visitor Program certification against Harvard to punish them for pushing back is a new low — and needlessly punishes thousands of innocent students.
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Neil deGrasse Tyson @neildegrassetyson.com · 17/05/2025
The 80-year recipe stoking America’s Prosperity: 1) Free-market capital investments in brilliant ideas… 2) enabled by Engineering Innovations… 3) based on Science Research in Universities… 4) funded by Grants from the US Government. It’s time more people understood this.
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Allison Gill @muellershewrote.com · 09/05/2025
She’s out!! They have released Ozturk from ICE custody!
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Larry Hunter @proflhunter.bsky.social · 24/04/2025
And just today the EIC of Nature Neuroscience told me in public that they are a for-profit company and if they had to pay reviewers they would "need" to raise prices.
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Andrea Love, PhD | Biomedical Scientist @drandrealove.bsky.social · 21/04/2025
Breast cancer diagnoses rose by over 300% between 1973 and 1992. Was there a breast cancer epidemic?! NO. Mammograms were implemented for screening in 1976. PREVALENCE is a function of being able to correctly diagnose something. This is also about autism.
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Max Kozlov @maxkozlov.bsky.social · 18/04/2025
I've received additional confirmation, as well as an email I can share publicly. See the directive NIH grants management staff received from Michelle Bulls, director of extramural policy at NIH:
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PGC Africa @pgc-africa.bsky.social · 17/04/2025
🚨 PGC Africa Monthly Meeting Alert! We are delighted to have Dr Lerato Majara from the Martin Lab @genetisaur.bsky.social, @broadinstitute.org join our 3rd virtual meeting of 2025 📆 24th April 2025 ⏲️ 2PM GMT | 2PM WAT | 3PM CAT | 4PM EAT 📢 More details on the flyer below #Psychosis #Africa #GWAS
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Malinda Lo @malindalo.bsky.social · 14/04/2025
Harvard redid its whole homepage to push back against the administration’s demands. I mean, this is just a website but I think it’s kind of a great PR move: www.harvard.edu
harvard.edu
Harvard University
Harvard University is devoted to excellence in teaching, learning, and research, and to developing leaders who make a difference globally.
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Niko Bowie @nikobowie.bsky.social · 12/04/2025
BREAKING: Last night, the Harvard faculty chapter of the AAUP and the national AAUP filed a lawsuit & TRO to block the Trump administration from illegally demanding that we keep quiet and change how we teach and research at the point of a financial gun. actionnetwork.org/user_files/u...
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Eric Topol @erictopol.bsky.social · 09/04/2025
A high polygenic risk score (PRS) for screening prostate cancer was superior to a PSA test or MRI for detecting clinically significant disease (Gleason ≥7). A big step forward for supporting utility of PRS @nejm.org www.nejm.org/doi/full/10....
nejm.org
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer | NEJM
The incidence of prostate cancer is increasing. Screening with an assay of prostate-specific antigen (PSA) has a high rate for false positive results. Genomewide association studies have identified...
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