Colm O’Dushlaine
@codushlaine.bsky.social
Reposted by Colm O’Dushlaine
We’re excited to share a new article from @insitro.bsky.social (first author @zmccaw.bsky.social) in @ajhgnews.bsky.social, introducing a summary-statistic-based implementation of the COding-variant Allelic Series Test, COAST-SS: www.sciencedirect.com/science/arti...
A scalable framework for identifying allelic series from summary statistics
Genes where a dose-response relationship exists between functionality and phenotypic impact are appealing therapeutic targets, as the effects of pharm…
www.sciencedirect.com
October 18, 2025 at 11:53 AM
We’re excited to share a new article from @insitro.bsky.social (first author @zmccaw.bsky.social) in @ajhgnews.bsky.social, introducing a summary-statistic-based implementation of the COding-variant Allelic Series Test, COAST-SS: www.sciencedirect.com/science/arti...
Reposted by Colm O’Dushlaine
We’re @ #ASHG to share our work that uses high-content phenotypic data, genetics & AI/ML to unblock new biology.
@sominenihk.bsky.social presents work to identify a key gene as a clinical driver of #MASLD
@twsoare.bsky.social presents on #AMD & how we use OCT scans to better predict disease risk
@sominenihk.bsky.social presents work to identify a key gene as a clinical driver of #MASLD
@twsoare.bsky.social presents on #AMD & how we use OCT scans to better predict disease risk
October 14, 2025 at 6:33 PM
We’re @ #ASHG to share our work that uses high-content phenotypic data, genetics & AI/ML to unblock new biology.
@sominenihk.bsky.social presents work to identify a key gene as a clinical driver of #MASLD
@twsoare.bsky.social presents on #AMD & how we use OCT scans to better predict disease risk
@sominenihk.bsky.social presents work to identify a key gene as a clinical driver of #MASLD
@twsoare.bsky.social presents on #AMD & how we use OCT scans to better predict disease risk
Reposted by Colm O’Dushlaine
Oh to be a little Tardigrade scratching its back on a bubble. 🫧🐻🧪
September 12, 2025 at 4:00 PM
Oh to be a little Tardigrade scratching its back on a bubble. 🫧🐻🧪
Reposted by Colm O’Dushlaine
Our paper out today: 50,000 years of evolutionary history of India: Impact on health and disease variation: Cell www.cell.com/cell/fulltex...
50,000 years of evolutionary history of India: Impact on health and disease variation
A genomic study of 2,762 individuals from India offers important insights into the
genomic diversity and evolutionary history of the subcontinent and highlights the
extensive genetic variation, gene f...
www.cell.com
June 26, 2025 at 3:27 PM
Our paper out today: 50,000 years of evolutionary history of India: Impact on health and disease variation: Cell www.cell.com/cell/fulltex...
Great start to #FOGBoston with a talk from Eric Green showing the remarkable ascent of genomics since 2003. Pretty shocking to hear how much damage has been done to public science institutions this year.
June 24, 2025 at 1:46 PM
Great start to #FOGBoston with a talk from Eric Green showing the remarkable ascent of genomics since 2003. Pretty shocking to hear how much damage has been done to public science institutions this year.
Reposted by Colm O’Dushlaine
There is no rationale for removing every member of the Advisory Committee for Immunization Practices (ACIP) and replacing them, except for RFK Jr. to appoint members who spread disinformation.
I am *disgusted* by Republicans for letting this happen to the U.S.
abcnews.go.com/amp/Health/r...
I am *disgusted* by Republicans for letting this happen to the U.S.
abcnews.go.com/amp/Health/r...
RFK Jr. says he is removing all 17 members of CDC's vaccine advisory committee
HHS Secretary Robert F. Kennedy Jr. announced on Monday he is removing all 17 members of the Centers for Disease Control and Prevention’s vaccine advisory committee.
abcnews.go.com
June 9, 2025 at 9:25 PM
There is no rationale for removing every member of the Advisory Committee for Immunization Practices (ACIP) and replacing them, except for RFK Jr. to appoint members who spread disinformation.
I am *disgusted* by Republicans for letting this happen to the U.S.
abcnews.go.com/amp/Health/r...
I am *disgusted* by Republicans for letting this happen to the U.S.
abcnews.go.com/amp/Health/r...
Reposted by Colm O’Dushlaine
In a world of Matts, be a Derek.
March 10, 2025 at 7:44 PM
In a world of Matts, be a Derek.
Survey from the global alliance for open science - Impact of Public Data Resources on Biopharma and Life Sciences Workflows: www.surveymonkey.com/r/BioITPubli...
Worth filling in!
Worth filling in!
May 15, 2025 at 2:59 AM
Survey from the global alliance for open science - Impact of Public Data Resources on Biopharma and Life Sciences Workflows: www.surveymonkey.com/r/BioITPubli...
Worth filling in!
Worth filling in!
Reposted by Colm O’Dushlaine
The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene".
But only slightly less well-known is this: consider the colocalized phenotypes.
That is, a genetic variant seldom disrupts exactly one phenotype.
What else does tugging on that thread do?
But only slightly less well-known is this: consider the colocalized phenotypes.
That is, a genetic variant seldom disrupts exactly one phenotype.
What else does tugging on that thread do?
April 13, 2025 at 6:36 PM
The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene".
But only slightly less well-known is this: consider the colocalized phenotypes.
That is, a genetic variant seldom disrupts exactly one phenotype.
What else does tugging on that thread do?
But only slightly less well-known is this: consider the colocalized phenotypes.
That is, a genetic variant seldom disrupts exactly one phenotype.
What else does tugging on that thread do?
Reposted by Colm O’Dushlaine
From 2010 to 2016 (latest data I have ), NIH research contributed to EVERY drug approved by the FDA
March 22, 2025 at 10:44 AM
From 2010 to 2016 (latest data I have ), NIH research contributed to EVERY drug approved by the FDA
Reposted by Colm O’Dushlaine
1. For the past thirty years I've had the best job in the world.
I've had the opportunity to follow my curiosity; explore the workings of nature and society; mentor students and junior colleagues in the same process; and teach generations of students about it all.
I've had the opportunity to follow my curiosity; explore the workings of nature and society; mentor students and junior colleagues in the same process; and teach generations of students about it all.
March 19, 2025 at 7:32 PM
1. For the past thirty years I've had the best job in the world.
I've had the opportunity to follow my curiosity; explore the workings of nature and society; mentor students and junior colleagues in the same process; and teach generations of students about it all.
I've had the opportunity to follow my curiosity; explore the workings of nature and society; mentor students and junior colleagues in the same process; and teach generations of students about it all.
Reposted by Colm O’Dushlaine
This is sad not just for genomics in the US, but across the world: Eric has been an incredibly effective global champion for the power of genomics and the impact of genomic medicine.
Eric Green is out as head of National Human Genome Research Institute
www.statnews.com/2025/03/17/t...
www.statnews.com/2025/03/17/t...
Eric Green is out as head of National Human Genome Research Institute
The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.
www.statnews.com
March 18, 2025 at 8:22 PM
This is sad not just for genomics in the US, but across the world: Eric has been an incredibly effective global champion for the power of genomics and the impact of genomic medicine.
Reposted by Colm O’Dushlaine
Today insitro announces an exciting new collaboration with insighteyehub.bsky.social at Moorfields Eye Hospital, London, through the development of a novel #AI foundation model to identify and to support #drugdiscovery. Learn more: www.businesswire.com/news/home/20...
March 18, 2025 at 10:06 AM
Today insitro announces an exciting new collaboration with insighteyehub.bsky.social at Moorfields Eye Hospital, London, through the development of a novel #AI foundation model to identify and to support #drugdiscovery. Learn more: www.businesswire.com/news/home/20...
Reposted by Colm O’Dushlaine
Reposted by Colm O’Dushlaine
Wow. "NIH" canceled my co-mentored (with Dave Sulzer) PhD student's F31 funding. His work is on understanding the genetics and neuroscience of language learning disorders. F31 provides no indirect $ to Columbia, just pays his salary. Not that it should matter, but he's an American citizen. W.T.F.
March 11, 2025 at 12:41 PM
Wow. "NIH" canceled my co-mentored (with Dave Sulzer) PhD student's F31 funding. His work is on understanding the genetics and neuroscience of language learning disorders. F31 provides no indirect $ to Columbia, just pays his salary. Not that it should matter, but he's an American citizen. W.T.F.
Is pubmed down/gone? This can’t be right..
March 2, 2025 at 4:23 PM
Is pubmed down/gone? This can’t be right..
Our work describing a deep dive into the use of ratio traits in GWAS, and things to watch out for!
Excited to share a new paper from @insitro.bsky.social (first author @zmccaw.bsky.social ) in @hggadvances.bsky.social vances.bsky.social on scrutinizing the practice of using a ratio trait (numerator / denominator) for GWAS.
www.cell.com/hgg-advances...
www.cell.com/hgg-advances...
Pitfalls in performing genome-wide association studies on ratio traits
Any variant associated with either numerator or denominator will associate with the
ratio in GWAS of sufficient size. Associations with ratio traits are thus not specific
to the ratio. Instead, we rec...
www.cell.com
February 11, 2025 at 1:10 PM
Our work describing a deep dive into the use of ratio traits in GWAS, and things to watch out for!
Reposted by Colm O’Dushlaine
The US government has been turned over to a group of extraordinarily ignorant people, and they are working to destroy science in this country. Cutting over half the NSF budget would save < 0.1% of the federal budget, but do incalculable harm. Simply heartbreaking.
arstechnica.com/science/2025...
arstechnica.com/science/2025...
White House budget proposal could shatter the National Science Foundation
“This kind of cut would kill American science and boost China.”…
arstechnica.com
February 7, 2025 at 12:28 PM
The US government has been turned over to a group of extraordinarily ignorant people, and they are working to destroy science in this country. Cutting over half the NSF budget would save < 0.1% of the federal budget, but do incalculable harm. Simply heartbreaking.
arstechnica.com/science/2025...
arstechnica.com/science/2025...
Reposted by Colm O’Dushlaine
Yesterday in Nature. A new place for science 👌
January 25, 2025 at 1:19 AM
Yesterday in Nature. A new place for science 👌
You know it’s a good thing when you are back to finding cool new science through social media on a Friday evening :)
December 14, 2024 at 2:03 AM
You know it’s a good thing when you are back to finding cool new science through social media on a Friday evening :)
Just out, makes some important points and well worth a read.
Guidance for human genome data collection, access, use and sharing
The WHO’s new document outlines a comprehensive set of globally applicable principles designed to guide stakeholders in the responsible collection, use, and sharing of human genome data. This document...
www.who.int
November 20, 2024 at 2:07 PM
Just out, makes some important points and well worth a read.