Jonathan Frazer
@jonnyfrazer.bsky.social
Probabilistic machine learning to address questions in evolution and health #EvolutionaryMedicine. PI at the Centre for Genomic Regulation, co-leading a group with Mafalda Dias. Previously Harvard.
Applications are open for the @crg_eu PhD Programme! 20 fully funded positions — including one in our group through the Evolutionary Medical Genomics ITN.
Join us to develop deep generative models of cross-species data to tackle open questions in disease genetics.
www.crg.eu/en/content/t...
Join us to develop deep generative models of cross-species data to tackle open questions in disease genetics.
www.crg.eu/en/content/t...
October 23, 2025 at 11:01 AM
Applications are open for the @crg_eu PhD Programme! 20 fully funded positions — including one in our group through the Evolutionary Medical Genomics ITN.
Join us to develop deep generative models of cross-species data to tackle open questions in disease genetics.
www.crg.eu/en/content/t...
Join us to develop deep generative models of cross-species data to tackle open questions in disease genetics.
www.crg.eu/en/content/t...
And now, the final talk of #VariantEffect25. @roseorenbuch-art.bsky.social from Harvard Medical School presents work from our long-standing collaboration, and one that’s very close to my heart: Proteome-wide model for human disease genetics
May 23, 2025 at 10:45 AM
And now, the final talk of #VariantEffect25. @roseorenbuch-art.bsky.social from Harvard Medical School presents work from our long-standing collaboration, and one that’s very close to my heart: Proteome-wide model for human disease genetics
High-content meets high-throughput at #VariantEffect25:
Katie Partington from @dougfowler.bsky.social lab presents: Variant in situ sequencing (VIS-seq) enables the measurement of visual phenotypes thousands of PTEN variants
Katie Partington from @dougfowler.bsky.social lab presents: Variant in situ sequencing (VIS-seq) enables the measurement of visual phenotypes thousands of PTEN variants
May 23, 2025 at 10:21 AM
High-content meets high-throughput at #VariantEffect25:
Katie Partington from @dougfowler.bsky.social lab presents: Variant in situ sequencing (VIS-seq) enables the measurement of visual phenotypes thousands of PTEN variants
Katie Partington from @dougfowler.bsky.social lab presents: Variant in situ sequencing (VIS-seq) enables the measurement of visual phenotypes thousands of PTEN variants
Another local hero! Up next at #VariantEffect25:
@taylor-mighell.bsky.social from @benlehner.bsky.social lab presents: Two wrongs make a right: can GPCR antagonists rescue mutant receptors? 🧬🧪🔁
@taylor-mighell.bsky.social from @benlehner.bsky.social lab presents: Two wrongs make a right: can GPCR antagonists rescue mutant receptors? 🧬🧪🔁
May 23, 2025 at 10:05 AM
Another local hero! Up next at #VariantEffect25:
@taylor-mighell.bsky.social from @benlehner.bsky.social lab presents: Two wrongs make a right: can GPCR antagonists rescue mutant receptors? 🧬🧪🔁
@taylor-mighell.bsky.social from @benlehner.bsky.social lab presents: Two wrongs make a right: can GPCR antagonists rescue mutant receptors? 🧬🧪🔁
Next up at #VariantEffect25:
Nobuhiko Tokuriki from @ubcmedicine.bsky.social presents:
Exploring evolutionary and fitness landscapes of β-lactamases
Nobuhiko Tokuriki from @ubcmedicine.bsky.social presents:
Exploring evolutionary and fitness landscapes of β-lactamases
May 23, 2025 at 9:27 AM
Next up at #VariantEffect25:
Nobuhiko Tokuriki from @ubcmedicine.bsky.social presents:
Exploring evolutionary and fitness landscapes of β-lactamases
Nobuhiko Tokuriki from @ubcmedicine.bsky.social presents:
Exploring evolutionary and fitness landscapes of β-lactamases
Another speaker I’ve been looking forward to seeing present in person for years! Next up at #VariantEffect25: @lindorfflarsen.bsky.social presents: Understanding the effects of missense variants using analyses of protein stability and conservation
May 23, 2025 at 8:17 AM
Another speaker I’ve been looking forward to seeing present in person for years! Next up at #VariantEffect25: @lindorfflarsen.bsky.social presents: Understanding the effects of missense variants using analyses of protein stability and conservation
Solving the many mysteries of amyloids 🧩🧬, next up at #VariantEffect25: @marianomartin.bsky.social from @bennibolo.bsky.social Lab presents:
Deep mutagenesis reveals the interplay between RIPKs amyloid nucleation and protein activity
Deep mutagenesis reveals the interplay between RIPKs amyloid nucleation and protein activity
May 23, 2025 at 7:58 AM
Solving the many mysteries of amyloids 🧩🧬, next up at #VariantEffect25: @marianomartin.bsky.social from @bennibolo.bsky.social Lab presents:
Deep mutagenesis reveals the interplay between RIPKs amyloid nucleation and protein activity
Deep mutagenesis reveals the interplay between RIPKs amyloid nucleation and protein activity
Day 3 of #VariantEffect25 and what a beautiful morning! 🌞🌊🧬
First up: Tim Whitehead presents
An experimental platform for learning antibody molecular recognition
First up: Tim Whitehead presents
An experimental platform for learning antibody molecular recognition
May 23, 2025 at 7:39 AM
Day 3 of #VariantEffect25 and what a beautiful morning! 🌞🌊🧬
First up: Tim Whitehead presents
An experimental platform for learning antibody molecular recognition
First up: Tim Whitehead presents
An experimental platform for learning antibody molecular recognition
Last talk of the day at #VariantEffect25!
Joseph Rosenbluh sends us off to dinner with:
Systematic functional characterization of CDH1 variants
Joseph Rosenbluh sends us off to dinner with:
Systematic functional characterization of CDH1 variants
May 22, 2025 at 3:43 PM
Last talk of the day at #VariantEffect25!
Joseph Rosenbluh sends us off to dinner with:
Systematic functional characterization of CDH1 variants
Joseph Rosenbluh sends us off to dinner with:
Systematic functional characterization of CDH1 variants
Charting the path from mutation to medicine, next we have #VariantEffect25 Sven Diederichs from @uniklinik-fr.bsky.social presents: Saturation mutational scanning uncovers druggability of all FGFR kinase point mutations 💊
May 22, 2025 at 3:04 PM
Charting the path from mutation to medicine, next we have #VariantEffect25 Sven Diederichs from @uniklinik-fr.bsky.social presents: Saturation mutational scanning uncovers druggability of all FGFR kinase point mutations 💊
From short linear motifs to big biological insights, next up at #VariantEffect25 @ivarssonlab.bsky.social presents:
Towards a map of the motif-based interactome in health and disease
Towards a map of the motif-based interactome in health and disease
May 22, 2025 at 2:28 PM
From short linear motifs to big biological insights, next up at #VariantEffect25 @ivarssonlab.bsky.social presents:
Towards a map of the motif-based interactome in health and disease
Towards a map of the motif-based interactome in health and disease
Next up at #VariantEffect25 we have Arvind Kumar, aka the Sherlock Holmes of the human genome 🕵️♂️🧬, presents:
Non-coding variant interpretation using deep learning and evolutionary conservation.
Non-coding variant interpretation using deep learning and evolutionary conservation.
May 22, 2025 at 1:15 PM
Next up at #VariantEffect25 we have Arvind Kumar, aka the Sherlock Holmes of the human genome 🕵️♂️🧬, presents:
Non-coding variant interpretation using deep learning and evolutionary conservation.
Non-coding variant interpretation using deep learning and evolutionary conservation.
Mapping the bigger picture! Next up at #VariantEffect25:
Ulrich Stelzl presents: Functional characterization of protein networks through deep mutational protein–interaction perturbation scanning
Ulrich Stelzl presents: Functional characterization of protein networks through deep mutational protein–interaction perturbation scanning
May 22, 2025 at 12:53 PM
Mapping the bigger picture! Next up at #VariantEffect25:
Ulrich Stelzl presents: Functional characterization of protein networks through deep mutational protein–interaction perturbation scanning
Ulrich Stelzl presents: Functional characterization of protein networks through deep mutational protein–interaction perturbation scanning
Next up at #VariantEffect25: @pollyfordyce.bsky.social presents: Microfluidics for quantitative and high-throughput biophysics and biochemistry 💧
May 22, 2025 at 12:17 PM
Next up at #VariantEffect25: @pollyfordyce.bsky.social presents: Microfluidics for quantitative and high-throughput biophysics and biochemistry 💧
Welcome back from lunch. Now for a quick overview of the AVE workstreams before we start the next session at #VariantEffect25.
May 22, 2025 at 12:14 PM
Welcome back from lunch. Now for a quick overview of the AVE workstreams before we start the next session at #VariantEffect25.
Bringing that GP probabilistic magic, next up at #VariantEffect25: Carlos Martí-Gomez presents: Learning sequence–function relationships with scalable and biologically interpretable Gaussian process models
May 22, 2025 at 10:31 AM
Bringing that GP probabilistic magic, next up at #VariantEffect25: Carlos Martí-Gomez presents: Learning sequence–function relationships with scalable and biologically interpretable Gaussian process models
Proud supervisor moment! Next up at #VariantEffect25: Charles Pugh @cwjpugh.bsky.social, PhD student in Mafalda’s and my group, presents: From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models #AI #ProteinML
May 22, 2025 at 10:10 AM
Proud supervisor moment! Next up at #VariantEffect25: Charles Pugh @cwjpugh.bsky.social, PhD student in Mafalda’s and my group, presents: From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models #AI #ProteinML
Welcome back from the break! Next up @juliadiumenge.bsky.social from @alloxbio.bsky.social Mapping allosteric sites at scale to develop better drugs
May 22, 2025 at 9:37 AM
Welcome back from the break! Next up @juliadiumenge.bsky.social from @alloxbio.bsky.social Mapping allosteric sites at scale to develop better drugs
Next up at #VariantEffect25 all the way from BGI, Ju Zheng presents:
Innovative high-throughput DNA synthesis: Enhancing Systematic Exploration of Protein Sequence-Function Relationships
Innovative high-throughput DNA synthesis: Enhancing Systematic Exploration of Protein Sequence-Function Relationships
May 22, 2025 at 8:42 AM
Next up at #VariantEffect25 all the way from BGI, Ju Zheng presents:
Innovative high-throughput DNA synthesis: Enhancing Systematic Exploration of Protein Sequence-Function Relationships
Innovative high-throughput DNA synthesis: Enhancing Systematic Exploration of Protein Sequence-Function Relationships
Next up at #VariantEffect25: Translating computational genomics into clinical clarity we have
@shawnfayer.bsky.social from @uwgenome.bsky.social presenting "A cluster-based method for guiding the use of variant effect predictors in clinical variant classification clinical clarity"
@shawnfayer.bsky.social from @uwgenome.bsky.social presenting "A cluster-based method for guiding the use of variant effect predictors in clinical variant classification clinical clarity"
May 22, 2025 at 8:12 AM
Next up at #VariantEffect25: Translating computational genomics into clinical clarity we have
@shawnfayer.bsky.social from @uwgenome.bsky.social presenting "A cluster-based method for guiding the use of variant effect predictors in clinical variant classification clinical clarity"
@shawnfayer.bsky.social from @uwgenome.bsky.social presenting "A cluster-based method for guiding the use of variant effect predictors in clinical variant classification clinical clarity"
Good morning from #VariantEffect25 – Kicking off Day 2 we have @mattcoelho.bsky.social from @sangerinstitute.bsky.social presenting "Prospective mapping of DNA variants modulating therapy response in cancer using gene editing" 🧪🧬💥
May 22, 2025 at 7:38 AM
Good morning from #VariantEffect25 – Kicking off Day 2 we have @mattcoelho.bsky.social from @sangerinstitute.bsky.social presenting "Prospective mapping of DNA variants modulating therapy response in cancer using gene editing" 🧪🧬💥
A little astronomy too!
May 21, 2025 at 11:07 PM
A little astronomy too!
Good views, food and even better company at #VariantEffect25
May 21, 2025 at 11:05 PM
Good views, food and even better company at #VariantEffect25
And now for the last talk of day 1 of #VariantEffect25 we have Steven Brenner @stevenbrenner.bsky.social: From Computer to Clinic: Calibrating variant impact predictors yields a ClinGen clinical recommendation up to strong evidence in genome variation interpretation
May 21, 2025 at 3:19 PM
And now for the last talk of day 1 of #VariantEffect25 we have Steven Brenner @stevenbrenner.bsky.social: From Computer to Clinic: Calibrating variant impact predictors yields a ClinGen clinical recommendation up to strong evidence in genome variation interpretation
Next up at #VariantEffect25 we have @filippostocco.bsky.social Guiding Generative Protein Language Models with Reinforcement Learning with Feature Extraction 🧬🤖 #AI #SynBio
May 21, 2025 at 3:02 PM
Next up at #VariantEffect25 we have @filippostocco.bsky.social Guiding Generative Protein Language Models with Reinforcement Learning with Feature Extraction 🧬🤖 #AI #SynBio