Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
@nicorobine.bsky.social
๐ค 4239
๐ฅ 1148
๐ 1218
Artisanal Genomics since 2002. Mostly in English, sometimes in French.
#NoPasaran
โญ๏ธโญ๏ธ
2 days ago
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Single Cell Genomics Day: A (Virtual) Practical Workshop. June 12, 2026, organized by
@nygenome.org
's Rahul Satija Free, livestreamed, no registration.
3 days ago
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[fr] Je pense que ce traducteur de lโanglais (Amรฉricain) nโa jamais foutu les pieds dans un MacDo (in Le Maรฎtre des Illusions (The Secret History). Donna Tart 1993)
5 days ago
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A multi-agent system for automating scientific discovery
www.nature.com/articles/s41...
An AI system to help scientists write expert-level empirical software
www.nature.com/articles/s41...
Accelerating scientific discovery with Co-Scientist
www.nature.com/articles/s41...
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A multi-agent system for automating scientific discovery - Nature
Nature - A multi-agent system for automating scientific discovery
https://www.nature.com/articles/s41586-026-10652-y
12 days ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Stephen Turner
13 days ago
Accelerating scientific discovery with Co-Scientist:
www.nature.com/articles/s41...
rdcu.be/fjE3k
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I donโt know the details of that particular story and it sounds amazing. But WHY are we giving all the credits to ยซย AIย ยป when itโs the results of a ton of peopleโs great work (to set up the program, run sequencing and bioinformatics analyses, multi-disciplinary medical boards, etc)?
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13 days ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Alexis Verger ๐งฌ๐งซ๐งช
26 days ago
#RIP
Pierre Chambon (1931-2026) via
@alainberetz.bsky.social
one of the last giants in biology: PARP, nuclear receptors, RNA Pol II, nucleosome, promoters, split genes
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โ ๏ธPreprint alertโ ๏ธ: we set up Polyethnic-1000 at
@nygenome.org
to study the molecular basis of cancer disparities. One striking example is endometrial cancer, with much higher mortality in patients of African ancestry.
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27 days ago
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[fr] SciencesPo, ENS, HEC
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about 1 month ago
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Front row seat at Carnegie Hall with
@grimmrad.bsky.social
about 1 month ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
eric lai
about 1 month ago
of many projects Craig Venter led, of personal significance was the fly genome, a unique and i think unexpected collaboration of his company Celera Genomics and the BDGP, led by my pd advisor Gerry Rubin. the power of a shotgun sequenced metazoan, benchmarked to a physical map, transformed genomics.
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
The New York Times
about 1 month ago
J. Craig Venter, a scientist and entrepreneur who decoded the human genome, has died at 79.
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J. Craig Venter, Scientist Who Decoded the Human Genome, Dies at 79
A risk-taking outsider, he brought speed, competition and controversy to one of scienceโs biggest races.
https://nyti.ms/49hkzRS
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Dora Koller
about 1 month ago
Our new paper, led by
@renatopolimanti.bsky.social
and I, and published today inย Nature Genetics, is the largest multi-ancestry GWAS of endometriosis to date including 1.4 million women, 105,869 cases, six global ancestry groups. Previous studies were almost exclusively European.
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Peter Kraft
about 1 month ago
Getting โusโ to Mars.
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I have an adult kidโฆ
about 1 month ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Katie Mack
about 1 month ago
When Einstein developed general relativity the closest thing to a practical application that could even be imagined at the time was a slightly more precise description of where to look for the planet Mercury in the sky, and yet now weโd all be literally lost without it. Anyway: fund basic research.
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Pierre Kerner
about 1 month ago
For me, it was the fact that I misred and misunderstood this ad...
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
about 2 months ago
Very interesting read.
www.asimov.press/p/bioinforma...
(Thanks to
@torstenseemann.bsky.social
for sharing over on the
#ABACBS
slack)
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A Brief History of Bioinformatics Software
How computer scientists on the fringes of biology made sense of sequencing data.
https://www.asimov.press/p/bioinformatics
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Roxanne Khamsi
about 1 month ago
๐ My book BEYOND INHERITANCE is out today.
tinyurl.com/5yjsr97n
This journey started with a fact I couldnโt ignore: Even in otherwise healthy adults, mutant cells can appear in the bloodโquietly doubling the risk of heart disease and stroke.
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Fulcrum Genomics
about 1 month ago
Deep QC should run on every sequencing dataset. In a new post, Fulcrum co-founder
@tfenne.bsky.social
explains why he built Riker, a modern successor to Picard designed to make rich sequencing QC fast enough to run every time. Blog:
shorturl.at/oUTXk
Repo:
github.com/fulcrumgenom...
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๐คฎ๐คฎ๐คฎ
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about 1 month ago
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Think about it next time you fill your disclosure of conflict of interests for papers/grants/talks etc.
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about 1 month ago
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Here it is: Atera: ยซย High throughput. Whole transcriptome. Single cell sensitivity.ย ยป
pages.10xgenomics.com/wbr-2026-02-...
Thoughts?
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about 1 month ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Nuria Lopez-Bigas
about 2 months ago
Tumor promotion through the lens of evolution This review grew out of many long conversations, shared ideas, and lively discussions It has been a real pleasure to think together with Allan, Paul, Eve, and Abel about how tumours develop and how carcinogens shape cancer risk
rdcu.be/fdC2J
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Tumour promotion through the lens of evolution
Nature - This Review revisits tumour initiation and promotion in light of clonal diversity and the presence of cancer driver mutations in normal tissues, aiming to understand mechanisms that enable...
https://rdcu.be/fdC2J
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Thiago Carvalho
about 2 months ago
'Our results support the hypothesis that somatic mutations in autoimmune lymphocytes may allow them to escape tolerance constraints through a polyclonal cascade of somatic evolution, providing new insights into the molecular basis of autoimmune disease.'
www.nature.com/articles/s41...
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Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity - Nature
Nature - Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity
https://www.nature.com/articles/s41586-026-10493-9
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THE HUMAN MOSAIC Why to live is to mutate. By Jerome Groopman.
www.newyorker.com/magazine/202...
A review of Roxanne Khamsi ยซย Beyond Inheritanceย ยป
www.penguinrandomhouse.com/books/711682...
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We Are All Constantly Mutatingโand Thatโs a Good Thing
Genetic research has been complicating the idea of the genome as a determinative blueprint.
https://www.newyorker.com/magazine/2026/04/13/beyond-inheritance-roxanne-khamsi-book-review
about 2 months ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Scott Horton
about 2 months ago
Jack Szostak "All of these things frighten me, and they should frighten you as well. I made the decision to create a life for myself here, because I viewed this as a place that rewarded determination, hard work, and integrity. It still has a chance to be that place again."
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Iโm a Nobel Prize-winning immigrant. I can no longer recognize this country.
Attacks on science and immigrants are destroying America.
https://open.substack.com/pub/ofthebrave/p/im-a-nobel-prize-winning-immigrant?utm_campaign=post-expanded-share&utm_medium=web
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Maybe it takes them forever to get out of the capsule because they actually look like this:
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about 2 months ago
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Where are the wild speculations on what will be announced next week? is it more cells, more precise spatial measurement, or something entirely different?
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about 2 months ago
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๐จ๐จ๐จ AACR abstracts just hit Google Scholar!๐จ๐จ๐จ
about 2 months ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
David A Knowles
2 months ago
@nygenome.org
is hiring Genomic AI Fellows! (fancy postdoc positions) If you're interested in working at the interface of AI and genomics in a great environment please apply at:
jobs.silkroad.com/NYGenome/Car...
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NYGC Genomic AI Fellows - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome Center
Find a career with New York Genome Center
https://jobs.silkroad.com/NYGenome/Careers/Jobs/779
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2 months ago
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Kendall Square experience: 2 Bluesky royals in the breakfast room. I hope they'll have a good day here today!
2 months ago
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๐ซ๐ท-๐ง๐ทin โฝ๏ธ. I know itโs a friendly but that will always be meaningful for my whole generation
#iWillSurvive
#BRAFRA
2 months ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Konrad
2 months ago
Excited to share our new preprint on gnomAD v4! We present the full analysis of 730,947 exomes โ new constraint metrics, improved LoF annotation (LOFTEE-2), LLM-based literature curation, and a unified framework for gene discovery and rare disease diagnosis.
www.medrxiv.org/content/10.6...
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Integrating 730,947 exome sequences with clinical literature improves gene discovery
Accurate estimates of allele frequencies aid in genetic discovery, including rare disease diagnosis, common disease investigations, and population genetics. Here, we present the Genome Aggregation Dat...
https://www.medrxiv.org/content/10.64898/2026.03.23.26349081v1
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
New York Genome Center
2 months ago
Congratulations to
@tuuliel.bsky.social
PhD, Senior Associate Faculty Member at the New York Genome Center, on receiving a prestigious award from the
@eshg.bsky.social
! Read more about this well-deserved recognition:
www.nygenome.org/news-events/...
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Tuuli Lappalainen, PhD Receives Prestigious European Society of Human Genetics Award - March 25, 2026
Read about Tuuli Lappalainen, PhD Receives Prestigious European Society of Human Genetics Award at the New York Genome Center on March 25, 2026
https://www.nygenome.org/news-events/news/lappalainen-receives-prestigious-european-society-of-human-genetics-award/
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Nature Astronomy
3 months ago
Samples returned from the asteroid Ryugu contain all five canonical nucleobases (A, G, C, T, U). Their presence in Ryugu and Bennu supports the hypothesis that carbonaceous asteroids contributed to the prebiotic chemical inventory of early Earth.
http://dlvr.it/TRWtVp
โ๏ธ
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A complete set of canonical nucleobases in the carbonaceous asteroid (162173) Ryugu - Nature Astronomy
Samples returned from the asteroid Ryugu contain all five canonical nucleobases (A, G, C, T and U). Their presence in Ryugu and Bennu supports the hypothesis that carbonaceous asteroids contributed to the prebiotic chemical inventory of early Earth.
http://dlvr.it/TRWtVp
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Despite the obvious superiority of fresh-frozen material for genomics, many samples are still stored in FFPE and remain challenging to characterize with Whole-genome sequencing. But here comes our solution:
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3 months ago
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hey
@lemonde.fr
je vous offre une capture dโรฉcran pour votre prochain article sur la baisse du niveau scolaire
3 months ago
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Polar Plunge this morning with Swin Across America! (rescheduled from early February, because the Sound was frozen back then!)
3 months ago
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Despite the obvious superiority of fresh-frozen material for genomics, many samples are still stored in FFPE and remain challenging to characterize with Whole-genome sequencing. But here comes our solution:
add a skeleton here at some point
3 months ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
bioRxiv Bioinfo
3 months ago
An explainable boosting machine model for identifying artifacts caused by formalin-fixed paraffin embedding
https://www.biorxiv.org/content/10.64898/2026.03.10.710815v1
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
bioRxiv Bioinfo
3 months ago
Fast and accurate resolution of ecDNA sequence using Cycle-Extractor
https://www.biorxiv.org/content/10.64898/2026.03.10.710955v1
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Global Re-Analysis Confirms Absence of the DNAJB1::PRKACA Fusion in Hepatoblastoma.
www.mdpi.com/2072-6694/18...
Comment on Fleifil et al. ("DNAJB1-PKAc Kinase Is Expressed in Young Patients with Pediatric Liver Cancers and Enhances Carcinogenic Pathways")
www.mdpi.com/2072-6694/17...
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https://www.mdpi.com/2072-6694/18/5/877
3 months ago
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And even wilder Italy!!! Grazie Mille!!! Wonderful victory!
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3 months ago
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Wild wild game by Scotland! Totally amazing. Bravo!
#rugby
#VINations
3 months ago
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Flying back from London, after a wonderful
@cancergrand.bsky.social
Summit! And very proud that after all those years, I finally got drawn by
@atjcagan.bsky.social
!
3 months ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Cancer Grand Challenges
3 months ago
๐ฐ News announcement!
www.cancergrandchallenges.org/new-teams-an...
Weโre thrilled to welcome five world-leading scientific teams, each awarded up to ยฃ20 million, to take on some of the toughest unanswered questions in
#CancerResearch
. Find out more about the teams and their challenges.
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$125m awarded to five visionary teams
$125m awarded to five visionary teams
https://www.cancergrandchallenges.org/new-teams-announcement
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
PLOS Medicine
3 months ago
March is
#Endometriosis
Awareness Month, and this Editorial by Alex Tosun (
@atosun.bsky.social
) discusses why greater awareness, education, funding and research for this systemic condition is imperative to redefining pain, equity, and investment in womenโs health ๐งช๐ป
#Medsky
plos.io/4slvscE
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From pain to policy: Improving endometriosis awareness, diagnosis, and treatment
In recognition of Endometriosis Awareness Month, this Editorial by Alexandra Tosun discusses why raising awareness and education of endometriosis, as well as increasing funding and research for this s...
https://plos.io/4slvscE
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Jose Tubioโs lab - Mobile Genomes
3 months ago
Today in
@science.org
: We are pleased to present our last work entitled: "Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis" by Zumalave et al.
www.science.org/doi/10.1126/...
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Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis
LINE-1 (L1) retrotransposition generates somatic genomic variation in human cancer, but short-read sequencing has limited our understanding of its structural consequences and dynamics. Using long-read...
https://www.science.org/doi/10.1126/science.aee4513
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