Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
@nicorobine.bsky.social
๐ค 4215
๐ฅ 1132
๐ 1129
Computational Biologist. Mostly in English, sometimes in French.
#NoPasaran
reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Scott Horton
1 day 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:
add a skeleton here at some point
about 22 hours 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?
add a skeleton here at some point
1 day ago
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๐จ๐จ๐จ AACR abstracts just hit Google Scholar!๐จ๐จ๐จ
4 days ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
David A Knowles
9 days 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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10 days 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!
12 days 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
16 days ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Konrad
16 days 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
17 days 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
26 days 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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28 days ago
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hey
@lemonde.fr
je vous offre une capture dโรฉcran pour votre prochain article sur la baisse du niveau scolaire
27 days ago
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Polar Plunge this morning with Swin Across America! (rescheduled from early February, because the Sound was frozen back then!)
27 days 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
28 days ago
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
bioRxiv Bioinfo
29 days 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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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
bioRxiv Bioinfo
29 days 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
about 1 month ago
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And even wilder Italy!!! Grazie Mille!!! Wonderful victory!
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about 1 month ago
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Wild wild game by Scotland! Totally amazing. Bravo!
#rugby
#VINations
about 1 month 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
!
about 1 month ago
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Cancer Grand Challenges
about 1 month 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
about 1 month 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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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Jose Tubioโs lab - Mobile Genomes
about 1 month 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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Entirely unrelated but Iโm excited to be in London next week!
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about 1 month ago
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Individualized mRNA vaccines evoke durable T cell immunity in adjuvant TNBC.
#BioNTech
www.nature.com/articles/s41...
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Individualized mRNA vaccines evoke durable T cell immunity in adjuvant TNBC - Nature
In a phase 1 trial, personalized mRNA vaccines tailored to individual tumour mutations in triple-negative breast cancer induced robust, long-lasting T cell responses and improved prognosis.
https://www.nature.com/articles/s41586-025-10004-2
about 2 months ago
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Not sure Iโll find a lot of people to talk
#rugby
next week in Londonโฆ what a game, Ireland! ๐
#6nations
about 2 months ago
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"Tempus AI Sued For Breach of Genetic Information Privacy Act" ๐ค
www.genomeweb.com/cancer/tempu...
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Tempus AI Sued For Breach of Genetic Information Privacy Act
The class action lawsuit alleges that Tempus illegally disclosed the genetic information of Ambry customers following the acquisition of that company.
https://www.genomeweb.com/cancer/tempus-ai-sued-breach-genetic-information-privacy-act
about 2 months ago
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Daniela Robles-Espinoza
about 2 months ago
We are very happy to see our study finally appear online
@nature.com
! This has been work of nearly 10 years in collaboration with the National Institute of Genome Medicine ๐ฒ๐ฝ, the National Cancer Institute ๐ฒ๐ฝ, the
@sangerinstitute.bsky.social
and others โฌ๏ธ
www.nature.com/articles/s41...
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Ancestry and somatic profile indicate acral melanoma origin and prognosis - Nature
Analysis of the somatic and transcriptomic profile of 123 acral melanoma samples from Mexican patients helps understand tumour origins and prognosis, and highlights the importance of including samples...
https://www.nature.com/articles/s41586-025-09967-z
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@lucksmith.bsky.social
@nelson-lau-lab.bsky.social
blast from the past (at least for me).
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about 2 months ago
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And with this, only one team can still win the
#6NationsGrandSlam
. Great game
#Scotland
. ๐
about 2 months ago
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WTF? The game is 30min in and AFAIK, there are no controversy with the ref. Why are these websites creating such BS (and Google promoting them)?
#ScoEng
(BTW, great game so far ๐)
about 2 months ago
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I recently got myself a bird cam to observe cute birds in my yard. The last 4 observations:
about 2 months ago
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ยซย The art of the footnoteย ยป
@matthewcobb.bsky.social
. Great book, thanks a lot for writing it!
2 months ago
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I get why all NIH grants are under a passcode for reviewers, but please, can we make it such that the text in the PDF can be copied? So frustrating to when one wants to cite a sentence in the review, for instance... Anybody got a fix for that?
2 months ago
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LOL. I canโt think of a better way to make sure they get loudly booed! Italian fans, please donโt disappoint
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2 months ago
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Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
www.nature.com/articles/s41...
"We analyzed genetic association data from ~2.9 million genomes..." ๐คฏ๐คฏ๐คฏ
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Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases - Nature Genetics
Genome-wide association analyses using data from 19 biobanks identify variants influencing risk of thyroid diseases and yield polygenic risk scores associated with features of aggressive thyroid cance...
https://www.nature.com/articles/s41588-025-02483-w
2 months ago
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#NYC5amClub
wishes you all a good
#6Nations
Tournament and
#AllezLesBleus
!
2 months ago
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Oh, no! Sunday morning cold plunge "Freeze Against Cancer" by Swim Across America is postponed! If anybody wants to join us on March 15, here is the link:
www.swimacrossamerica.org/site/TR/Pool...
2 months ago
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The "Friends Don't Let Friends Make Bad Graphs" list is great... BUT I STRONGLY disagree with the suggestion to use log scaled axis on barplots. (the absolute worse being "stacked barplots on logscale") Just don't use barplots if the values are on different orders of magnitude. Who's with me?
add a skeleton here at some point
2 months ago
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Cell - a Cell Press journal
2 months ago
Now online! Hallmarks of cancerโThen and now, and beyond
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Hallmarks of cancerโThen and now, and beyond
Hanahan revisits the evolving framework of cancer hallmarks, synthesizing 25 years of conceptual refinement into a multidimensional view of tumor biology. This review highlights how aberrant capabilities, enabling traits, microenvironmental players, and systemic interactions converge to drive tumorigenesis and proposes that mechanism-guided co-targeting of hallmarks may offer promising therapeutic strategies.
http://dlvr.it/TQg93q
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
๐ฆ kris๐ปโโโ
2 months ago
Tom Morello in Minneapolis last night. ๐คฉ KILLING IN THE NAME
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Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Caleb Lareau
2 months ago
Today in
@nature.com
, we describe how discarded reads in biobank-scale WGS can help resolve the genetic predictors and consequences of Epstein-Barr Virus (EBV) infection. Wonderful working with
@ryandhindsa.bsky.social
@sherrynyeo.bsky.social
@erinmayc.bsky.social
www.nature.com/articles/s41...
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Population-scale sequencing resolves determinants of persistent EBV DNA - Nature
Population-scale WGS reveals genetic determinants of persistent EBV DNA, linking immune regulationโespecially antigen processing and MHC class II variationโto EBV persistence and heterogeneous di...
https://www.nature.com/articles/s41586-025-10020-2#citeas
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
2 months ago
This is a paper I am super proud of, long in the making, packed with important concepts. It was old data and n=1 (most stronge claims backed with patients), metastatic clones are endowed with plasticity to adapt to multiple organ environments.
add a skeleton here at some point
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โMonet in Veniseโ at
@brooklynmuseum.org
. Inside and outside!
3 months ago
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Wisdom graffiti
3 months ago
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Rob Patro
3 months ago
Any bioinformatics friends out there have a huge load of AI code credits & want to try smth crazy (but amazing if it works)? What if we ask Claude to port STAR to Rust? Current development and maintenance on this central tool has largely stalled, but I think a lang change would reinvigorate it!
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Clinical genetic variation across Hispanic populations in the Mexican Biobank
www.nature.com/articles/s41...
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Clinical genetic variation across Hispanic populations in the Mexican Biobank - Nature Medicine
Analyzing data of the Mexican Biobank project, a new study finds regional differences in clinically relevant genetic frequencies and presents MexVar, a publicly accessible resource designed to support...
https://www.nature.com/articles/s41591-025-04100-z
3 months ago
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reposted by
Nicolas Robine ๐ช๐บ๐ซ๐ท๐บ๐ธ
Kentsis Research Group
3 months ago
A transposase-derived gene required for human brain development | Science Advances
www.science.org/doi/10.1126/...
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A transposase-derived gene required for human brain development
PGBD5 is required for brain development in humans and mice through genetic and nongenetic mechanisms.
https://www.science.org/doi/10.1126/sciadv.adv7530
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Author's contribution: removed all double-space in several versions of the manuscript.
3 months ago
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