Pol Solé Navais
@polsolenavais.bsky.social
Genetics of Perinatal and Reproductive outcomes https://mosaic-wlab.github.io/
Reposted by Pol Solé Navais
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...
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...
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...
www.medrxiv.org
November 5, 2025 at 8:04 AM
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...
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...
Reposted by Pol Solé Navais
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
📄Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
🧑🤝🧑 @shaicarmi.bsky.social @eva-hoffmann.bsky.social & co
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...
www.cell.com
October 20, 2025 at 5:32 PM
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
📄Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
🧑🤝🧑 @shaicarmi.bsky.social @eva-hoffmann.bsky.social & co
Reposted by Pol Solé Navais
Open to connecting with potential candidates at #ASHG25 !
My lab is seeking to co-hire a postdoctoral fellow with the
@shaonsengupta.bsky.social team. See details below!
I'll be #ASHG2025, so open to discuss further there if interest.
careers.chop.edu/us/en/job/10...
@shaonsengupta.bsky.social team. See details below!
I'll be #ASHG2025, so open to discuss further there if interest.
careers.chop.edu/us/en/job/10...
Post Doctoral Research Fellow – Circadian Biology and Genomics in Philadelphia, Pennsylvania, United States of America | Fellows, Students & Interns at Children’s Hospital of Philadelphia
Apply for Post Doctoral Research Fellow – Circadian Biology and Genomics job with Children’s Hospital of Philadelphia in Philadelphia, Pennsylvania, United States of America. Fellows, Students & Inter...
careers.chop.edu
October 14, 2025 at 12:25 PM
Open to connecting with potential candidates at #ASHG25 !
Reposted by Pol Solé Navais
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 🫵
October 1, 2025 at 3:51 PM
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 🫵
Reposted by Pol Solé Navais
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
We also enable the display of non-Western character author names.
Read more: journals.biologists.com/dmm/pages/news
News from DMM | Disease Models & Mechanisms | The Company of Biologists
News from DMM | Disease Models & Mechanisms | The Company of Biologists
journals.biologists.com
September 22, 2025 at 1:32 PM
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
We also enable the display of non-Western character author names.
Read more: journals.biologists.com/dmm/pages/news
Reposted by Pol Solé Navais
@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
Details below
careersearch.stanford.edu/jobs/computa...
Plz RT
August 19, 2025 at 12:29 AM
@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
Details below
careersearch.stanford.edu/jobs/computa...
Plz RT
Reposted by Pol Solé Navais
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
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
August 14, 2025 at 4:21 PM
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
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
Reposted by Pol Solé Navais
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?
August 2, 2025 at 2:38 PM
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?
Reposted by Pol Solé Navais
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
August 2, 2025 at 2:15 AM
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
Reposted by Pol Solé Navais
Reposted by Pol Solé Navais
🧵 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...
Spread the good news!
osf.io/preprints/os...
OSF
osf.io
June 13, 2025 at 5:51 PM
🧵 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...
Spread the good news!
osf.io/preprints/os...
Reposted by Pol Solé Navais
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...
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 …
strategiska.se
May 9, 2025 at 5:33 PM
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...
Reposted by Pol Solé Navais
Pro tip: the second you post your preprint it's "accepted for publication"
May 16, 2025 at 1:59 PM
Pro tip: the second you post your preprint it's "accepted for publication"
Reposted by Pol Solé Navais
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!
May 9, 2025 at 6:09 AM
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!
Reposted by Pol Solé Navais
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
👉 europa.eu/!NTYTTV
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...
europa.eu
May 5, 2025 at 11:41 AM
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
👉 europa.eu/!NTYTTV
Reposted by Pol Solé Navais
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
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Nature Medicine - Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
rdcu.be
April 7, 2025 at 11:48 AM
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
Reposted by Pol Solé Navais
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...
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...
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,...
www.biorxiv.org
March 28, 2025 at 1:22 AM
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...
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...
Reposted by Pol Solé Navais
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...
www.nature.com/articles/s41...
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.
www.nature.com
March 12, 2025 at 4:32 PM
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...
www.nature.com/articles/s41...
Reposted by Pol Solé Navais
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! 🧵
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! 🧵
March 12, 2025 at 5:50 PM
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! 🧵
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! 🧵
Reposted by Pol Solé Navais
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
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.
openrxiv.org
March 11, 2025 at 1:20 PM
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
Reposted by 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
📢 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
Postdoctor in Reproductive genetics - bioinformatics
The position is within Pol Solé-Navais’ research group that focuses on reproductive and perinatal health
web103.reachmee.com
February 15, 2025 at 7:29 PM
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
📢 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
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🥳
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🥳
Postdoctor in Reproductive genetics - bioinformatics
The position is within Pol Solé-Navais’ research group that focuses on reproductive and perinatal health
web103.reachmee.com
February 13, 2025 at 9:18 AM
📢 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🥳
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🥳
Reposted by Pol Solé Navais
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
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
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…
plos.io
February 21, 2025 at 3:41 PM
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
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
Reposted by Pol Solé Navais
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...
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...
February 18, 2025 at 12:05 PM
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...
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...
Reposted by Pol Solé Navais
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
Streamlit
mssearch.xyz
February 16, 2025 at 7:02 PM
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