Pol Solé Navais
@polsolenavais.bsky.social
📤 881
📥 758
📝 42
Genetics of Perinatal and Reproductive outcomes
https://mosaic-wlab.github.io/
reposted by
Pol Solé Navais
Uri Alon
5 days ago
We analyzed changes in physiology relative to menopause using two large scale studies that include millions of lab tests. Rather than align by age, we used statistical inference to align tests to final menstrual period. (1/2)
arunamed.com/the-menopaus...
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The Menopause Cliff: What a Million Women's Lab Tests Reveal
TLDR: A massive study of 300+ million lab tests from 1+ million women just proved what women have been saying for years: menopause isn't a gradual slope—it's a physiological cliff. Nearly e
https://arunamed.com/the-menopause-cliff-what-a-million-womens-lab-tests-reveal/
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Pol Solé Navais
Masahiro Kanai
7 days ago
Excited to share our new FinnGen single-nucleus multiome preprint! 🧬 We profiled ~10M PBMCs (snRNA-seq + snATAC-seq) from 1,108 Finnish donors to map how genetic variants drive complex disease through chromatin and gene regulation 🧵👇 🔗 Link:
www.medrxiv.org/content/10.1...
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Pol Solé Navais
Daniel Bojar
13 days ago
Very excited to see this in its final form! Here's our in-depth exploration of the sequences, dynamics, and functions of grey seal milk oligosaccharides throughout their (brief) lactation period, from a wild colony in Scotland. Full of surprises!
www.nature.com/articles/s41...
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Seal milk oligosaccharides rival human milk complexity and exhibit functional dynamics during lactation - Nature Communications
Jin et al. discovered Atlantic grey seal milk contains 332 complex sugars, including 166 novel structures. Seal milk rivals human milk complexity, includes giant molecules up to 28 sugar units, change...
https://www.nature.com/articles/s41467-025-66075-2
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Pol Solé Navais
Genetics Society UK
24 days ago
Congratulations
@hilarycmartin.bsky.social
from
@sangerinstitute.bsky.social
on being awarded the 2026 Balfour Lecture!
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Pol Solé Navais
Shai Carmi
about 1 month ago
Interesting story in this preprint. A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation. Three years later, his hematopoiesis became normal (without intervention). How?
www.medrxiv.org/content/10.1...
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Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and aty...
https://www.medrxiv.org/content/10.1101/2025.10.29.25337140v1
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Pol Solé Navais
The American Journal of Human Genetics
about 2 months ago
Online now! 📄Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans 🧑🤝🧑
@shaicarmi.bsky.social
@eva-hoffmann.bsky.social
& co
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Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
Ploidy abnormalities affect over 1% of human embryos. Haploidy typically results from absent sperm DNA, while triploidy mainly arises from maternal meiosis II errors. Triploidy also shows a linear mat...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00390-8
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Pol Solé Navais
Struan Grant
about 2 months ago
Open to connecting with potential candidates at
#ASHG25
!
add a skeleton here at some point
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Pol Solé Navais
Richard Sever
2 months ago
Another record month for bioRxiv - and further evidence the pandemic spike+dip was just that and growth continues. Thanks to all involved and that includes 🫵
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Pol Solé Navais
The Company of Biologists
3 months ago
Authors can now include a translation of their submitted manuscript’s abstract in their chosen language, which will be published directly following the English language abstract. We also enable the display of non-Western character author names. Read more:
journals.biologists.com/dmm/pages/news
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News from DMM | Disease Models & Mechanisms | The Company of Biologists
News from DMM | Disease Models & Mechanisms | The Company of Biologists
https://journals.biologists.com/dmm/pages/news
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Pol Solé Navais
Anshul Kundaje
4 months ago
@jengreitz.bsky.social
l & my lab want to co-hire a computational biologist/biostatistician with project management expertise to help map the regulatory code of the human genome and discover genetic mechanisms of disease. Details below
careersearch.stanford.edu/jobs/computa...
Plz RT
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Pol Solé Navais
eLife
4 months ago
High impact, small size. With Short Reports, we welcome papers that might address findings from a single set of experiments, or that are substantial enough to stand alone in 1,500 words or fewer. Read the latest Short Reports:
buff.ly/1T4094h
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Pol Solé Navais
Sasha Gusev
4 months ago
There are still important details lacking. 1) How to address the substantial differences in prediction calibration and uncertainty across different environmental contexts (see: Hou et al. 2024
pubmed.ncbi.nlm.nih.gov/38886587/
), many of which are unknown for an embryo by definition?
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Pol Solé Navais
Graham Coop
4 months ago
It is depressing, but all too predictable, how swiftly we’ve gone from the Social Science Genetic Association Consortium offering reassurances about the uses of behavioural polygenic scores to one of their lead authors marketing embryo selection for IQ
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Pol Solé Navais
5 months ago
www.nature.com/articles/s44...
This is a message that cannot be emphasized enough!!
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Writing is thinking - Nature Reviews Bioengineering
On the value of human-generated scientific writing in the age of large-language models.
https://www.nature.com/articles/s44222-025-00323-4
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Pol Solé Navais
Eivind Ystrom
6 months ago
🧵 THREAD: Preprint from
@chrisrayner.bsky.social
reveals how to fix selection bias in the Norwegian
#MoBa
study using population-wide registry data! For the first time, we can quantify and adjust for selection bias in this major epidemiological resource. Spread the good news!
osf.io/preprints/os...
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OSF
https://osf.io/preprints/osf/ymk37_v1
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Pol Solé Navais
Caroline Lynn Kamerlin
7 months ago
Are you a US-based academic that has prior ties to Sweden? Are you also 7-12 years from your PhD? If so, the Foundation for Strategic Research is providing funds of up to $1.5 mil (15m SEK) to bring you back to Sweden! Application deadline Sep 23.
strategiska.se/pressmeddela...
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45 miljoner i forskningsstöd till återvändare från USA! - Stiftelsen för strategisk forskning
Stiftelsen för strategisk forskning, SSF, ger 45 miljoner kronor i forskningsbidrag till USA-baserade forskare som vill …
https://strategiska.se/pressmeddelande/45-miljoner-i-forskningsstod-till-atervandare-fran-usa/
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Pol Solé Navais
Oded Rechavi
7 months ago
Pro tip: the second you post your preprint it's "accepted for publication"
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Pol Solé Navais
Hilary Martin
7 months ago
Looking forward to attending
#GeneForum2025
in Tartu, Estonia Sept 9-10 and learning more about
@estbiobank.bsky.social
. Thanks
@kauralasoo.bsky.social
for the invitation!
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Pol Solé Navais
European Research Council (ERC)
7 months ago
The ERC welcomes the offer of substantial additional budget from
@ec.europa.eu
for the development of a new ERC funding instrument offering larger, longer-term grants, as announced by President Ursula Von der Leyen at the Sorbonne this morning. 👉
europa.eu/!NTYTTV
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Choose Europe for Science: ERC welcomes new budget for 'super grants'
The Scientific Council of the European Research Council welcomes the offer of substantial additional budget from the European Commission for the development of a new ERC funding instrument offering la...
https://europa.eu/!NTYTTV
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Tuuli Lappalainen
8 months ago
Our vision for Precision Omics Initiative Sweden (PROMISE) is now published in Nature Medicine! By boosting data-driven precision omics in Sweden, we can not only empower research but also integrate it with healthcare in a new way, with an impact in 🇸🇪 and 🌎. 🧵:
rdcu.be/egmXY
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Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Nature Medicine - Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
https://rdcu.be/egmXY
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Pol Solé Navais
Jeff Spence
9 months ago
A really nice paper by
@drghawkes.bsky.social
et al. argues that rare and common genetic associations converge on the same genes. While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6)
www.biorxiv.org/content/10.1...
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Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...
https://www.biorxiv.org/content/10.1101/2025.02.24.639925v1
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Pol Solé Navais
Brooke Wolford, PhD
9 months ago
Congrats to Natàlia Pujol Gualdo, Triin Laisk, and the Estonian Biobank Research team on this beautiful paper! We replicated their association between PRS for intrahepatic cholestasis of pregnancy and the outcome (OR 1.7 per SD increase in PRS) in the HUNT Study.
www.nature.com/articles/s41...
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Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses - Nature Medicine
This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
https://www.nature.com/articles/s41591-025-03543-8
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reposted by
Pol Solé Navais
Saloni
9 months ago
Hey researchers, bloggers, everyone interested in fertility data! We recently added lots of new data at Our World in Data on fertility rates, ages at childbirth, twin birth rates, birth seasonality, and more. Here's a thread of what you can find on the site! 🧵
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Richard Sever
9 months ago
Big news: we are setting up a new non-profit organization to run bioRxiv and medRxiv. It's called openRxiv [no it's not a new preprint server; it's dedicated organization to oversee the servers]
openrxiv.org
1/n
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Homepage - openRxiv
openRxiv is an independent non-profit, the new organizational home for bioRxiv and medRxiv, enabling researchers to instantly share groundbreaking findings with the global scientific community.
https://openrxiv.org/
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Pol Solé Navais
We are looking for postdocs in reproductive genetics in beautiful Gothenburg! 📢 Virtually free childcare, free school, free healthcare, free higher ed 📢 Gothenburg = vibrant city (Way Out West) + 100s activities (🌍's largest 1/2 marathon) + biotech companies (AstraZeneca) + Volvo
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Postdoctor in Reproductive genetics - bioinformatics
The position is within Pol Solé-Navais’ research group that focuses on reproductive and perinatal health
https://web103.reachmee.com/ext/I005/1035/job?site=7&lang=UK&validator=9b89bead79bb7258ad55c8d75228e5b7&job_id=36664
10 months ago
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reposted by
Pol Solé Navais
📢 We are recruiting postdocs to help me build my research group in
#reproductive
genetics in Sweden
mosaic-wlab.github.io
Comp bio background? Join us to work on the genetics of miscarriage! Apply below or contact me 😃 A unique opportunity to shape how we approach science Reposts appreciated🥳
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Postdoctor in Reproductive genetics - bioinformatics
The position is within Pol Solé-Navais’ research group that focuses on reproductive and perinatal health
https://web103.reachmee.com/ext/I005/1035/job?site=7&lang=UK&validator=9b89bead79bb7258ad55c8d75228e5b7&job_id=36664
10 months ago
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reposted by
Pol Solé Navais
PLOS Biology
10 months ago
PLOS has issued a statement on recent US Executive Orders and scientific integrity. We are determined to stand firmly behind our mission, our values and our principles, and against any attempt at censorship or undermining of the core principles of scientific inquiry.
plos.io/3D4O8cH
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PLOS statement on recent US Executive Orders and scientific integrity - The Official PLOS Blog
Since its founding over twenty five years ago PLOS has been dedicated to advancing open science, ensuring that knowledge is accessible to…
https://plos.io/3D4O8cH
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Shai Carmi
10 months ago
Happy to share a new preprint, to which I provided a minor contribution. Using genetic data from ~100k human embryos, we found ~1k that were haploid or triploid. We describe a thorough characterization of these embryos, with many interesting findings 🧵 1/9
www.biorxiv.org/content/10.1...
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Pol Solé Navais
Dawid Zyla
10 months ago
I've been developing a semantic search tool that covers not just bioRxiv and medRxiv, but the entire PubMed database. This means you can search across a massive collection of biomedical research using keywords, questions, hypotheses, or even full abstracts. Try it out:
mssearch.xyz
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Streamlit
https://mssearch.xyz/
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📢 We are recruiting postdocs to help me build my research group in
#reproductive
genetics in Sweden
mosaic-wlab.github.io
Comp bio background? Join us to work on the genetics of miscarriage! Apply below or contact me 😃 A unique opportunity to shape how we approach science Reposts appreciated🥳
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Postdoctor in Reproductive genetics - bioinformatics
The position is within Pol Solé-Navais’ research group that focuses on reproductive and perinatal health
https://web103.reachmee.com/ext/I005/1035/job?site=7&lang=UK&validator=9b89bead79bb7258ad55c8d75228e5b7&job_id=36664
10 months ago
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reposted by
Pol Solé Navais
Daniel MacPhee 🇨🇦
10 months ago
E-Life special issue on reproductive health
#ReproSky
#MedSky
🧪
elifesciences.org/collections/...
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Special Issue: Reproductive Health
Our latest Special Issue showcases research in reproductive biology and medicine.
https://elifesciences.org/collections/f8cc6f3f/special-issue-reproductive-health
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reposted by
Pol Solé Navais
Rachel Freathy
11 months ago
So happy to see this published in NatComms!
tinyurl.com/yc66amvu
Rare variant assocs with birth weight identify 9 genes. Insights into links between earlygrowth & later metabolic health. Great collabs between teams Exe&Camb. Amazing resources of UKB & deCODE made it possible.
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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling - Nature Communications
An exome-wide association study for fetal and maternal rare deleterious variants affecting the normal variation in birth weight identifies nine genes involved in adipose tissue regulation, placental f...
https://tinyurl.com/yc66amvu
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Pol Solé Navais
Nature Genetics
11 months ago
📢@naturegenet.bsky.social is looking to hire a new editor! Come join our team and help publish the most exciting research in genetics and genomics! Deadline is February 5th.
springernature.wd3.myworkdayjobs.com/SpringerNatu...
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Associate or Senior Editor, Nature Genetics
Job Title: Associate or Senior Editor, Nature Genetics (m/w/d) Locations: Berlin, Heidelberg, New York or Jersey City (Hybrid) Application deadline: 5th February About Springer Nature Group Springer N...
https://springernature.wd3.myworkdayjobs.com/SpringerNatureCareers/job/Berlin/Associate-or-Senior-Editor--Nature-Genetics_JR101744
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Pol Solé Navais
Anshul Kundaje
11 months ago
@anusri.bsky.social
first author & developer of ChromBPNet is looking for opportunities in industry in ML for bio/genomics. She is an excellent rigorous scientist (as u can see from the paper). Very strongly recommend her. Plz reach out to her if u have openings. Plz forward.
add a skeleton here at some point
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📢📢📢 open permanent position for a researcher interested in genetics of pregnancy traits! If you like trios (aka pedigrees) register data and genetics, apply!
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Researcher in human pregnancy genomics/epidemiology
The Institute of Clinical Sciences, Obstetrics and Gynecology at Sahlgrenska Academy, is seeking a researcher
https://web103.reachmee.com/ext/I005/1035/job?site=7&lang=UK&validator=9b89bead79bb7258ad55c8d75228e5b7&job_id=36323
11 months ago
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Pol Solé Navais
David Westergaard, PhD
11 months ago
We're hiring! Make a real difference in women's health at Hvidovre Hospital, Denmark. Use your data skills to analyze large datasets, collaborate with clinicians, and contribute to advancements in reproductive health. Apply now:
www.regionh.dk/job/s%C3%B8g...
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Pol Solé Navais
eLife
12 months ago
Authors of this paper on ageing and senescence massively improved their paper after just one revision, with evidence jumping from “incomplete” to “compelling”. You can openly view reviews and version histories alongside the final paper.
#12DaysOfeLife
https://buff.ly/4fTdI2A
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Pol Solé Navais
Simon Olsson
12 months ago
Come join us on an exciting joint PhD project on ML for protein function with
@kailalab.bsky.social
-- We are looking for a strong quantitative candidate with prior experience in ML. The position is based in Gothenburg and is fully funded for 5 years.
www.chalmers.se/en/about-cha...
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Vacancies
https://www.chalmers.se/en/about-chalmers/work-with-us/vacancies/?rmpage=job&rmjob=13296&rmlang=UK
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Pol Solé Navais
Tuuli Lappalainen
12 months ago
🌟 Exciting news: The Leena Peltonen School of Human Genetics returns in 2025! We're excited to bring PhD students together with an all-star list of leaders in human genetics. 📅 July 27-31, 2025 📍 Wellcome Genome Campus, UK 📝 Apply by March 7 at
www.lpshg.com
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Pol Solé Navais
James Fraser
12 months ago
There is no "committee on science" that will impose a new order or set of incentives. No one is going to "fix" peer review or incentivize it differently in one fell swoop. We have to BE the change - the tools already exist for everyone at every level to make an impact and change the incentives
add a skeleton here at some point
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Pol Solé Navais
Rajiv McCoy
12 months ago
Aneuploidy is the leading cause of pregnancy loss. In our latest study (
www.biorxiv.org/content/10.1...
) led by undergrad Angela Yang, we used a simulation framework to infer rates of both meiotic (39-43%) and mitotic errors (1-3% per division) that best explain data from human IVF embryo biopsies.
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Pol Solé Navais
Science News
about 1 year ago
Three must read papers for PhD students.
#scisky
#PhD
#science
#research
#academicsky
2. How To Choose a Good Scientific Problem Open Access
www.cell.com/molecular-ce...
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This one I'm very proud of: we identified a common genetic variant 🧬 that protects 5-fold from neonatal jaundice (replicated in different ancestries) which increases UGT1A1 (main bilirubin enzyme) expression in the gut, but not in the liver! 🖥️🧪🧬 A lot more here:
www.nature.com/articles/s41...
add a skeleton here at some point
about 1 year ago
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Pol Solé Navais
Anthony Herzig
about 1 year ago
Organising the EMGM in Brest next year:
emgm2025.sciencesconf.org
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53rd European Mathematical Genetics Meeting - Sciencesconf.org
https://emgm2025.sciencesconf.org/
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Pol Solé Navais
Marc de Manuel
about 1 year ago
📣 Two ERC-funded positions are available in the lab! If you are interested in exploring the mechanisms underlying mutation, we’d love to hear from you. PhD:
shorturl.at/Oc04N
Postdoc:
shorturl.at/1ShHB
RPs and shares would be greatly appreciated! 🧪🧬🖥️
#ScienceJobs
#PostdocJobs
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🧬🧪🖥️ One week left to apply to our postdoc position (2 + 1 years) in reproductive genetics! Please, share with colleagues and potentially interested candidates (comp bio/ biostats). Happy to chat about the project, position and/ or Gothenburg (Sweden) to anyone interested!
#NewPI
🧬🧪🖥️
add a skeleton here at some point
about 1 year ago
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Pol Solé Navais
Michel Nivard
about 1 year ago
This feed should populate with posts that have: biorxiv,arxiv, medrxiv or "new preprint" in them, but are not by one of the automated *rxiv bots. It will take a while to start working, the custom feed provider is crashing/lagging all the time because of load:
bsky.app/profile/did:...
add a skeleton here at some point
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I feel I need to say that: I am not particularly creative myself (maybe non-conventional?), but hey, some of the best football coaches were frustrated players!
add a skeleton here at some point
about 1 year ago
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Pol Solé Navais
Igor Ulitsky
about 1 year ago
A surge of biologists here on 🦋! A conversation starter for PIs: ow do you encourage/force your students to read more papers, beyond Journal Clubs? I feel I keep failing in this, and the students don't meet the "know your sub-field's literature better than the PI" bar...
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Pol Solé Navais
CrazyMyra
about 2 years ago
Preserve the Friday traditions
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