Alicia Martin's Avatar

Alicia Martin

@genetisaur.bsky.social

Population and statistical geneticist @MGH/HMS and Broad Institute

931 Followers  |  146 Following  |  17 Posts  |  Joined: 06.12.2023  |  1.9568

Latest posts by genetisaur.bsky.social on Bluesky

Preview
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...

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 πŸ‘€ rdcu.be/eSfAZ

28.11.2025 13:10 β€” πŸ‘ 41    πŸ” 15    πŸ’¬ 0    πŸ“Œ 0
Preview
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...

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...

18.09.2025 17:25 β€” πŸ‘ 63    πŸ” 25    πŸ’¬ 1    πŸ“Œ 0

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

11.09.2025 15:39 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
Post image

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

11.09.2025 15:03 β€” πŸ‘ 12    πŸ” 2    πŸ’¬ 2    πŸ“Œ 0
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 β€œprophylaxis”.

He also posted a number of conspiratorial theories on social media, including the baseless claim that β€œthe name #COVID was chosen to conceal the origin of the virus. This name made it harder to study and probably slowed the response.”

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 β€œprophylaxis”. He also posted a number of conspiratorial theories on social media, including the baseless claim that β€œthe name #COVID was chosen to conceal the origin of the virus. This name made it harder to study and probably slowed the response.”

On the new acting CDC director. www.theguardian.com/us-news/2025...

29.08.2025 01:59 β€” πŸ‘ 1695    πŸ” 767    πŸ’¬ 83    πŸ“Œ 123

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 😬

18.08.2025 19:19 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
Preview
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

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...

05.08.2025 22:32 β€” πŸ‘ 555    πŸ” 177    πŸ’¬ 12    πŸ“Œ 12

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.

05.08.2025 22:54 β€” πŸ‘ 18156    πŸ” 6770    πŸ’¬ 549    πŸ“Œ 284

Let’s not pretend this ends with Harvard. This will be every American university unless a resounding legal win establishes precedent

05.08.2025 16:56 β€” πŸ‘ 13    πŸ” 4    πŸ’¬ 0    πŸ“Œ 1
Preview
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

Incredibly well reported deep dive on NIH and health disparities research in STAT. 🧡

www.statnews.com/2025/08/01/n...

1/31

01.08.2025 13:26 β€” πŸ‘ 130    πŸ” 74    πŸ’¬ 1    πŸ“Œ 11
Preview
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.

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?

30.07.2025 00:44 β€” πŸ‘ 161    πŸ” 121    πŸ’¬ 4    πŸ“Œ 28

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!

29.07.2025 17:51 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
Preview
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 β€” translational and cli...

Wonderful tribute to a dear colleague- well worth the read www.ucsf.edu/news/2025/06...

25.06.2025 00:50 β€” πŸ‘ 64    πŸ” 13    πŸ’¬ 3    πŸ“Œ 3
Preview
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...

πŸ“’ Just posted: Our preprint introducing SPC β€” Spectral Components β€” 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.
πŸ”— www.medrxiv.org/content/10.1...

1/9

17.06.2025 16:26 β€” πŸ‘ 37    πŸ” 15    πŸ’¬ 1    πŸ“Œ 0

🚨 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 β€” virtually in their entirety... unsupported by [facts]."

Each of them are VOID and ILLEGAL, he says.

16.06.2025 18:16 β€” πŸ‘ 1236    πŸ” 307    πŸ’¬ 11    πŸ“Œ 33
Video thumbnail

"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!

09.06.2025 17:25 β€” πŸ‘ 1157    πŸ” 405    πŸ’¬ 15    πŸ“Œ 32

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

06.06.2025 15:59 β€” πŸ‘ 5    πŸ” 1    πŸ’¬ 1    πŸ“Œ 0
Preview
Cutting the NIHβ€”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...

"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...

30.05.2025 19:10 β€” πŸ‘ 477    πŸ” 294    πŸ’¬ 11    πŸ“Œ 10

We’re seeing something similar in AoU as well. It’s still something we’re trying to fully understand

29.05.2025 18:26 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
Preview
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...

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...

29.05.2025 18:03 β€” πŸ‘ 45    πŸ” 15    πŸ’¬ 1    πŸ“Œ 0

Statement from the American College of Obstetricians and Gynecologists

27.05.2025 19:51 β€” πŸ‘ 120    πŸ” 61    πŸ’¬ 2    πŸ“Œ 1

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.

23.05.2025 16:00 β€” πŸ‘ 48137    πŸ” 11362    πŸ’¬ 1471    πŸ“Œ 463

🚨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 β€” and needlessly punishes thousands of innocent students.

22.05.2025 18:07 β€” πŸ‘ 1658    πŸ” 615    πŸ’¬ 60    πŸ“Œ 35

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.

17.05.2025 13:36 β€” πŸ‘ 9032    πŸ” 2974    πŸ’¬ 372    πŸ“Œ 176
Post image

She’s out!! They have released Ozturk from ICE custody!

09.05.2025 22:24 β€” πŸ‘ 52673    πŸ” 8675    πŸ’¬ 961    πŸ“Œ 651

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.

24.04.2025 05:58 β€” πŸ‘ 21    πŸ” 3    πŸ’¬ 2    πŸ“Œ 1

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.

21.04.2025 22:14 β€” πŸ‘ 16964    πŸ” 4694    πŸ’¬ 175    πŸ“Œ 124
Post image

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:

18.04.2025 20:23 β€” πŸ‘ 102    πŸ” 63    πŸ’¬ 3    πŸ“Œ 9
Post image

🚨 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

πŸ“† 24th April 2025
⏲️ 2PM GMT | 2PM WAT | 3PM CAT | 4PM EAT
πŸ“’ More details on the flyer below

#Psychosis #Africa #GWAS

17.04.2025 09:35 β€” πŸ‘ 3    πŸ” 2    πŸ’¬ 0    πŸ“Œ 1
Preview
Harvard University Harvard University is devoted to excellence in teaching, learning, and research, and to developing leaders who make a difference globally.

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

14.04.2025 19:10 β€” πŸ‘ 7015    πŸ” 1500    πŸ’¬ 113    πŸ“Œ 216

@genetisaur is following 20 prominent accounts