Simone Rubinacci
@srubinacci.bsky.social
Group leader in Statistical Genomics @fimm-uh.bsky.social
Lab website: https://www.helsinki.fi/en/researchgroups/computational-and-stat
Lab website: https://www.helsinki.fi/en/researchgroups/computational-and-stat
Reposted by Simone Rubinacci
🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...
Highlights below!
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...
Highlights below!
August 6, 2025 at 6:27 PM
🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...
Highlights below!
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...
Highlights below!
Reposted by Simone Rubinacci
MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes https://www.biorxiv.org/content/10.1101/2025.06.24.660721v1
June 25, 2025 at 6:34 AM
MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes https://www.biorxiv.org/content/10.1101/2025.06.24.660721v1
Reposted by Simone Rubinacci
📣 We are recruiting 2-3 early-stage group leaders. 📣
Join an institute where cross-disciplinary teamwork and national health-data resources let you ask the questions no one else can!
🚀 Apply here by 10 Aug to start your own research group:
jobs.helsinki.fi/job/Helsinki...
#ScienceJobs
Join an institute where cross-disciplinary teamwork and national health-data resources let you ask the questions no one else can!
🚀 Apply here by 10 Aug to start your own research group:
jobs.helsinki.fi/job/Helsinki...
#ScienceJobs
June 18, 2025 at 7:15 AM
📣 We are recruiting 2-3 early-stage group leaders. 📣
Join an institute where cross-disciplinary teamwork and national health-data resources let you ask the questions no one else can!
🚀 Apply here by 10 Aug to start your own research group:
jobs.helsinki.fi/job/Helsinki...
#ScienceJobs
Join an institute where cross-disciplinary teamwork and national health-data resources let you ask the questions no one else can!
🚀 Apply here by 10 Aug to start your own research group:
jobs.helsinki.fi/job/Helsinki...
#ScienceJobs
Reposted by Simone Rubinacci
Reposted by Simone Rubinacci
Our new study in Molecular Psychiatry, in 1528 children and their parents (@ntrbiopsy.bsky.social) shows that indirect genetic effects—where parental genetics shape offspring traits via environmental influences (genetic nurture)—impact DNA methylation of children. doi.org/10.1038/s413... (1/5)
Intergenerational transmission of complex traits and the offspring methylome - Molecular Psychiatry
Molecular Psychiatry - Intergenerational transmission of complex traits and the offspring methylome
doi.org
April 6, 2025 at 2:07 PM
Our new study in Molecular Psychiatry, in 1528 children and their parents (@ntrbiopsy.bsky.social) shows that indirect genetic effects—where parental genetics shape offspring traits via environmental influences (genetic nurture)—impact DNA methylation of children. doi.org/10.1038/s413... (1/5)
Reposted by Simone Rubinacci
The recording of the second episode of our #ESHG Webinar Series is now on YouTube.
🔜 Episode 3 – April 30, 16:00 CEST
📌 "Making sense of genetic associations"
🎙️ Zoltan Kutalik
Join for free on Zoom! Register here: buff.ly/l6d0fai
🔜 Episode 3 – April 30, 16:00 CEST
📌 "Making sense of genetic associations"
🎙️ Zoltan Kutalik
Join for free on Zoom! Register here: buff.ly/l6d0fai
April 3, 2025 at 1:26 PM
The recording of the second episode of our #ESHG Webinar Series is now on YouTube.
🔜 Episode 3 – April 30, 16:00 CEST
📌 "Making sense of genetic associations"
🎙️ Zoltan Kutalik
Join for free on Zoom! Register here: buff.ly/l6d0fai
🔜 Episode 3 – April 30, 16:00 CEST
📌 "Making sense of genetic associations"
🎙️ Zoltan Kutalik
Join for free on Zoom! Register here: buff.ly/l6d0fai
Reposted by Simone Rubinacci
We study the genetics of drug efficacy using longitudinal biomarker and medication prescription data from #EHRs. 🧬💊
Have a look at the 🧵 on i) modelling drug response and biomarker progression, ii) using #PRS to predict efficacy and iii) the challenges with #EHRs.
www.nature.com/articles/s41...
Have a look at the 🧵 on i) modelling drug response and biomarker progression, ii) using #PRS to predict efficacy and iii) the challenges with #EHRs.
www.nature.com/articles/s41...
April 1, 2025 at 8:12 PM
We study the genetics of drug efficacy using longitudinal biomarker and medication prescription data from #EHRs. 🧬💊
Have a look at the 🧵 on i) modelling drug response and biomarker progression, ii) using #PRS to predict efficacy and iii) the challenges with #EHRs.
www.nature.com/articles/s41...
Have a look at the 🧵 on i) modelling drug response and biomarker progression, ii) using #PRS to predict efficacy and iii) the challenges with #EHRs.
www.nature.com/articles/s41...
Reposted by Simone Rubinacci
Join us April 8-9 for @geneticssociety.bsky.social Spring Symposium on Cancer Genetics!! 🧬
I will present our work on #mCAs & #solid_tumors in @finngen.bsky.social.
Register link: learning.ashg.org/products/202...
Excited to connect with you virtually months before the Boston annual meeting!! 🫶
I will present our work on #mCAs & #solid_tumors in @finngen.bsky.social.
Register link: learning.ashg.org/products/202...
Excited to connect with you virtually months before the Boston annual meeting!! 🫶
March 25, 2025 at 10:47 PM
Join us April 8-9 for @geneticssociety.bsky.social Spring Symposium on Cancer Genetics!! 🧬
I will present our work on #mCAs & #solid_tumors in @finngen.bsky.social.
Register link: learning.ashg.org/products/202...
Excited to connect with you virtually months before the Boston annual meeting!! 🫶
I will present our work on #mCAs & #solid_tumors in @finngen.bsky.social.
Register link: learning.ashg.org/products/202...
Excited to connect with you virtually months before the Boston annual meeting!! 🫶
Reposted by Simone Rubinacci
Join us in Lausanne for a newly launched Computational Biology Symposium with a stellar lineup of speakers! Registration and abstract submission open: share your original research work in a friendly atmosphere!
March 19, 2025 at 1:23 PM
Join us in Lausanne for a newly launched Computational Biology Symposium with a stellar lineup of speakers! Registration and abstract submission open: share your original research work in a friendly atmosphere!
Reposted by Simone Rubinacci
I am writing book(let) beginners guide (as in I also started as a begginner) on DNA/Protein language modeling/neural networks. I am 12 chapters in. I'll publish it, data, models, scripts, notebooks freely online. I need ppl to read/critique/review chapters, you'd be credited as editor/author obv.
March 19, 2025 at 10:57 AM
I am writing book(let) beginners guide (as in I also started as a begginner) on DNA/Protein language modeling/neural networks. I am 12 chapters in. I'll publish it, data, models, scripts, notebooks freely online. I need ppl to read/critique/review chapters, you'd be credited as editor/author obv.
Reposted by Simone Rubinacci
Terrific speaker line-up covering a broad spectrum of biological questions addressed through a common language made of math, statistics and computer science
#ai #computerscience #math #physics #complexsystem #evolution #machinelearning #statistics #popgen #genomics #proteomics Please re-post !
#ai #computerscience #math #physics #complexsystem #evolution #machinelearning #statistics #popgen #genomics #proteomics Please re-post !
March 18, 2025 at 1:09 PM
Terrific speaker line-up covering a broad spectrum of biological questions addressed through a common language made of math, statistics and computer science
#ai #computerscience #math #physics #complexsystem #evolution #machinelearning #statistics #popgen #genomics #proteomics Please re-post !
#ai #computerscience #math #physics #complexsystem #evolution #machinelearning #statistics #popgen #genomics #proteomics Please re-post !
Reposted by Simone Rubinacci
Final EMGM2025 registration deadline <- 24th March www.billetweb.fr/emgm2025
Tickets : EMGM2025
Tickets : EMGM2025 - Billetweb
www.billetweb.fr
March 17, 2025 at 3:29 PM
Final EMGM2025 registration deadline <- 24th March www.billetweb.fr/emgm2025
Reposted by Simone Rubinacci
Principles and methods for transferring polygenic risk scores across global populations go.nature.com/3WJCqKX
Principles and methods for transferring polygenic risk scores across global populations - Nature Reviews Genetics
This Review summarizes the genetic and non-genetic factors that impact the transferability of polygenic risk scores (PRSs) across populations, highlighting the technical challenges of existing PRS con...
go.nature.com
February 6, 2025 at 11:54 AM
Principles and methods for transferring polygenic risk scores across global populations go.nature.com/3WJCqKX
Reposted by Simone Rubinacci
🚨 Preprint update!
We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals!
Discover fresh insights into the genetic architecture of early growth!
Updated preprint: www.medrxiv.org/content/10.1...
We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals!
Discover fresh insights into the genetic architecture of early growth!
Updated preprint: www.medrxiv.org/content/10.1...
🚨 Our preprint on parent-of-origin effects (POEs) is out!
With our novel method, we inferred the parental origin of alleles for >220,000 individuals, uncovering novel insights into genetics, evolution, and health.
👉 Read here: www.medrxiv.org/content/10.1...
👇 Highlights below!
With our novel method, we inferred the parental origin of alleles for >220,000 individuals, uncovering novel insights into genetics, evolution, and health.
👉 Read here: www.medrxiv.org/content/10.1...
👇 Highlights below!
Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~220,000 individuals
Parent-of-origin effects (POEs) occur when the impact of a genetic variant depends on its parental origin. Traditionally linked to genomic imprinting, these effects are believed to have evolved from p...
www.medrxiv.org
January 21, 2025 at 1:52 PM
🚨 Preprint update!
We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals!
Discover fresh insights into the genetic architecture of early growth!
Updated preprint: www.medrxiv.org/content/10.1...
We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals!
Discover fresh insights into the genetic architecture of early growth!
Updated preprint: www.medrxiv.org/content/10.1...