Impact of Genomic Variation on Function
@igvfconsortium.bsky.social
IGGSy 2026 is coming!
July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations.
Registration open now!
iggsy.org
July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations.
Registration open now!
iggsy.org
February 11, 2026 at 6:40 PM
IGGSy 2026 is coming!
July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations.
Registration open now!
iggsy.org
July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations.
Registration open now!
iggsy.org
Recent IGVF research benchmarks Perturb-seq in human stem cells, enabling scalable analysis of gene and enhancer function during differentiation and disease.
Uncover the science behind it: www.cell.com/stem-cell-re...
Uncover the science behind it: www.cell.com/stem-cell-re...
Benchmarking and optimizing Perturb-seq in differentiating human pluripotent stem cells
Sivakumar et al. optimize steps for Perturb-seq in human pluripotent stem cells, differentiated
cardiomyocytes, and neural progenitor cells. They define key QC steps during the experiment
and propose ...
www.cell.com
February 6, 2026 at 4:53 PM
Recent IGVF research benchmarks Perturb-seq in human stem cells, enabling scalable analysis of gene and enhancer function during differentiation and disease.
Uncover the science behind it: www.cell.com/stem-cell-re...
Uncover the science behind it: www.cell.com/stem-cell-re...
How does IGVF research move us closer to understanding human health and disease?
Charles Gersbach, PhD, explains how mapping the function of genetic variation is key to unlocking better treatments, from cancer and fibrosis to neurodegeneration and aging.
▶️ youtu.be/R6Q3yavjGDs
Charles Gersbach, PhD, explains how mapping the function of genetic variation is key to unlocking better treatments, from cancer and fibrosis to neurodegeneration and aging.
▶️ youtu.be/R6Q3yavjGDs
How will IGVF research advance our understanding of human health and disease?
YouTube video by Impact of Genomic Variation on Function
youtu.be
February 4, 2026 at 7:42 PM
How does IGVF research move us closer to understanding human health and disease?
Charles Gersbach, PhD, explains how mapping the function of genetic variation is key to unlocking better treatments, from cancer and fibrosis to neurodegeneration and aging.
▶️ youtu.be/R6Q3yavjGDs
Charles Gersbach, PhD, explains how mapping the function of genetic variation is key to unlocking better treatments, from cancer and fibrosis to neurodegeneration and aging.
▶️ youtu.be/R6Q3yavjGDs
A recent preprint introduces MaveMD, a clinical interface for MaveDB that integrates MAVE data with ClinVar and ClinGen to support variant classification and reduce VUS uncertainty.
Uncover the science behind it: www.medrxiv.org/content/10.1...
Uncover the science behind it: www.medrxiv.org/content/10.1...
www.medrxiv.org
January 30, 2026 at 7:19 PM
A recent preprint introduces MaveMD, a clinical interface for MaveDB that integrates MAVE data with ClinVar and ClinGen to support variant classification and reduce VUS uncertainty.
Uncover the science behind it: www.medrxiv.org/content/10.1...
Uncover the science behind it: www.medrxiv.org/content/10.1...
Momentum and connections is exactly right!
Excited to see the impact highlighted in the 2025 Annual Report. 👏🏼
Excited to see the impact highlighted in the 2025 Annual Report. 👏🏼
We’re happy to share our 2025 Annual Report!
A year of "momentum and connections"!
➡️ zenodo.org/records/1833...
#AnnualReport #GlobalAlliance #FunctionalGenomics #VariantEffect #Community
A year of "momentum and connections"!
➡️ zenodo.org/records/1833...
#AnnualReport #GlobalAlliance #FunctionalGenomics #VariantEffect #Community
January 28, 2026 at 10:33 PM
Momentum and connections is exactly right!
Excited to see the impact highlighted in the 2025 Annual Report. 👏🏼
Excited to see the impact highlighted in the 2025 Annual Report. 👏🏼
Large-scale perturbation of transcription factors and enhancers reveals regulatory networks shaping human heart development and congenital heart disease.
A new reference map helps interpret CHD genes and variants.
Uncover the research behind it: www.biorxiv.org/content/10.6...
A new reference map helps interpret CHD genes and variants.
Uncover the research behind it: www.biorxiv.org/content/10.6...
www.biorxiv.org
January 23, 2026 at 7:09 PM
Large-scale perturbation of transcription factors and enhancers reveals regulatory networks shaping human heart development and congenital heart disease.
A new reference map helps interpret CHD genes and variants.
Uncover the research behind it: www.biorxiv.org/content/10.6...
A new reference map helps interpret CHD genes and variants.
Uncover the research behind it: www.biorxiv.org/content/10.6...
Understanding how genomic variation shapes disease opens the door to entirely new therapeutic strategies.
Hear from Jesse Engreitz, PhD, and other IGVF members in the full Q&A.
▶️ youtu.be/zPzGIjSQJ4U
Hear from Jesse Engreitz, PhD, and other IGVF members in the full Q&A.
▶️ youtu.be/zPzGIjSQJ4U
January 21, 2026 at 4:56 PM
Understanding how genomic variation shapes disease opens the door to entirely new therapeutic strategies.
Hear from Jesse Engreitz, PhD, and other IGVF members in the full Q&A.
▶️ youtu.be/zPzGIjSQJ4U
Hear from Jesse Engreitz, PhD, and other IGVF members in the full Q&A.
▶️ youtu.be/zPzGIjSQJ4U
Cells sense matrix stiffness through mechanoenhancers, genomic elements that tune gene activity in response to mechanical signals.
Editing these enhancers can reshape cell behavior, pointing to new therapeutic possibilities.
Read more:
www.science.org/doi/10.1126/...
Editing these enhancers can reshape cell behavior, pointing to new therapeutic possibilities.
Read more:
www.science.org/doi/10.1126/...
Mechanosensitive genomic enhancers potentiate the cellular response to matrix stiffness
Epigenetic control of gene expression and cellular phenotype is influenced by changes in the local microenvironment, yet how mechanical cues precisely influence epigenetic state to regulate transcript...
www.science.org
January 13, 2026 at 3:14 PM
Cells sense matrix stiffness through mechanoenhancers, genomic elements that tune gene activity in response to mechanical signals.
Editing these enhancers can reshape cell behavior, pointing to new therapeutic possibilities.
Read more:
www.science.org/doi/10.1126/...
Editing these enhancers can reshape cell behavior, pointing to new therapeutic possibilities.
Read more:
www.science.org/doi/10.1126/...
Cheers to another year of discovery! 🎇
As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF.
Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U
As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF.
Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U
Impact of Genomic Variation on Function (IGVF) Consortium Q&A
YouTube video by Impact of Genomic Variation on Function
youtu.be
December 22, 2025 at 2:35 PM
Cheers to another year of discovery! 🎇
As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF.
Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U
As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF.
Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U
Monod is a Python package for single-cell RNA-seq that integrates nascent and mature RNA using biophysical models, revealing regulatory dynamics beyond average expression.
Learn more: www.nature.com/articles/s41...
Learn more: www.nature.com/articles/s41...
Monod: model-based discovery and integration through fitting stochastic transcriptional dynamics to single-cell sequencing data - Nature Methods
Monod fits biophysically motivated models to single-cell transcriptomics data, empowering multifaceted and integrative insights of gene expression dynamics, stochasticity and regulation.
www.nature.com
December 19, 2025 at 8:01 PM
Monod is a Python package for single-cell RNA-seq that integrates nascent and mature RNA using biophysical models, revealing regulatory dynamics beyond average expression.
Learn more: www.nature.com/articles/s41...
Learn more: www.nature.com/articles/s41...
Kallisto utilizes pseudoalignment to quickly estimate transcript abundances from RNA-seq data and can handle tens of millions of reads in minutes, all while maintaining high accuracy.
Explore the tool:
github.com/pachterlab/k...
Explore the tool:
github.com/pachterlab/k...
GitHub - pachterlab/kallisto: Near-optimal RNA-Seq quantification
Near-optimal RNA-Seq quantification. Contribute to pachterlab/kallisto development by creating an account on GitHub.
github.com
December 16, 2025 at 7:11 PM
Kallisto utilizes pseudoalignment to quickly estimate transcript abundances from RNA-seq data and can handle tens of millions of reads in minutes, all while maintaining high accuracy.
Explore the tool:
github.com/pachterlab/k...
Explore the tool:
github.com/pachterlab/k...
NEW from IGVF: our NAR paper highlighting the IGVF Catalog, an open resource for exploring how genomic variation impacts function.
Use the resource, explore the data, and tell us what you think!
academic.oup.com/nar/advance-...
Use the resource, explore the data, and tell us what you think!
academic.oup.com/nar/advance-...
The IGVF catalog—from genetic variation to function
Abstract. Genomic variation between individuals is essential for understanding how differences in the genome sequence affect molecular and cellular process
academic.oup.com
December 9, 2025 at 7:36 PM
NEW from IGVF: our NAR paper highlighting the IGVF Catalog, an open resource for exploring how genomic variation impacts function.
Use the resource, explore the data, and tell us what you think!
academic.oup.com/nar/advance-...
Use the resource, explore the data, and tell us what you think!
academic.oup.com/nar/advance-...
We're proud to recognize this year’s IGVF Team Science Award winners, leaders and teams whose work strengthens the entire consortium.
Congratulations to each of our award recipients 👏🏽
Congratulations to each of our award recipients 👏🏽
December 3, 2025 at 7:31 PM
We're proud to recognize this year’s IGVF Team Science Award winners, leaders and teams whose work strengthens the entire consortium.
Congratulations to each of our award recipients 👏🏽
Congratulations to each of our award recipients 👏🏽
Feeling extra grateful this November for the IGVF community!
Thank you for your collaboration, dedication, and the incredible work you do to advance our understanding of human health and disease.
Thank you for your collaboration, dedication, and the incredible work you do to advance our understanding of human health and disease.
November 26, 2025 at 6:26 PM
Feeling extra grateful this November for the IGVF community!
Thank you for your collaboration, dedication, and the incredible work you do to advance our understanding of human health and disease.
Thank you for your collaboration, dedication, and the incredible work you do to advance our understanding of human health and disease.
IGVF @ CAGI7!
This year’s meeting features several talks from IGVF members, all aligned with our efforts to link genomic variation to function.
Keynote by Douglas Fowler (UW).
Late registration ends Dec 1.
genomeinterpretation.org/cagi7.html
This year’s meeting features several talks from IGVF members, all aligned with our efforts to link genomic variation to function.
Keynote by Douglas Fowler (UW).
Late registration ends Dec 1.
genomeinterpretation.org/cagi7.html
CAGI7
genomeinterpretation.org
November 20, 2025 at 6:15 PM
IGVF @ CAGI7!
This year’s meeting features several talks from IGVF members, all aligned with our efforts to link genomic variation to function.
Keynote by Douglas Fowler (UW).
Late registration ends Dec 1.
genomeinterpretation.org/cagi7.html
This year’s meeting features several talks from IGVF members, all aligned with our efforts to link genomic variation to function.
Keynote by Douglas Fowler (UW).
Late registration ends Dec 1.
genomeinterpretation.org/cagi7.html
Reposted by Impact of Genomic Variation on Function
Stoked to share our latest work entitled: “Large-scale discovery of neural enhancers for cis-regulation therapies”
shorturl.at/H3Qww
This is an enormous team effort that I had the honour of spearheading with Nick Page and Florence Chardon.
Bluetorial below.
shorturl.at/H3Qww
This is an enormous team effort that I had the honour of spearheading with Nick Page and Florence Chardon.
Bluetorial below.
November 5, 2025 at 3:09 PM
Stoked to share our latest work entitled: “Large-scale discovery of neural enhancers for cis-regulation therapies”
shorturl.at/H3Qww
This is an enormous team effort that I had the honour of spearheading with Nick Page and Florence Chardon.
Bluetorial below.
shorturl.at/H3Qww
This is an enormous team effort that I had the honour of spearheading with Nick Page and Florence Chardon.
Bluetorial below.
Incredible work from the IGVF community!
A major step forward for scalable CRT discovery, and a significant contribution to understanding gene regulation in human neurons.
A major step forward for scalable CRT discovery, and a significant contribution to understanding gene regulation in human neurons.
🚀 Very excited to share the first major work from my PhD!!
We combined MPRA and CRISPRa in excitatory neurons to test and validate cis-regulation therapies for hundreds of haploinsufficient neurodevelopmental disorder genes. 🧬🔬
www.biorxiv.org/content/10.1...
We combined MPRA and CRISPRa in excitatory neurons to test and validate cis-regulation therapies for hundreds of haploinsufficient neurodevelopmental disorder genes. 🧬🔬
www.biorxiv.org/content/10.1...
November 14, 2025 at 7:04 PM
Incredible work from the IGVF community!
A major step forward for scalable CRT discovery, and a significant contribution to understanding gene regulation in human neurons.
A major step forward for scalable CRT discovery, and a significant contribution to understanding gene regulation in human neurons.
🔍 scE2G is a computational pipeline for predicting genome-wide enhancer–gene regulatory links using single-cell ATAC-seq or paired ATAC + RNA-seq (multiome) data.
Learn more & access the tool here: github.com/EngreitzLab/...
Learn more & access the tool here: github.com/EngreitzLab/...
GitHub - EngreitzLab/scE2G: Pipeline to run scE2G
Pipeline to run scE2G. Contribute to EngreitzLab/scE2G development by creating an account on GitHub.
github.com
November 13, 2025 at 7:27 PM
🔍 scE2G is a computational pipeline for predicting genome-wide enhancer–gene regulatory links using single-cell ATAC-seq or paired ATAC + RNA-seq (multiome) data.
Learn more & access the tool here: github.com/EngreitzLab/...
Learn more & access the tool here: github.com/EngreitzLab/...
From data to discovery, IGVF is working to understand how genomic variation influences genome function and phenotype.
Learn more about our work at www.igvf.org
Learn more about our work at www.igvf.org
Impact of Genomic Variation on Function (IGVF) Consortium
IGVF, Impact of Genomic Variation on Function, IGVF Consortium, Understanding how genomic variation affects genome function to influence phenotypes
www.igvf.org
November 5, 2025 at 8:14 PM
From data to discovery, IGVF is working to understand how genomic variation influences genome function and phenotype.
Learn more about our work at www.igvf.org
Learn more about our work at www.igvf.org
Wishing everyone a spook-tacular Halloween! 👻
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
October 31, 2025 at 4:10 PM
Wishing everyone a spook-tacular Halloween! 👻
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
RSV remains a global health challenge.
Using CRISPR knockout screens and single-cell RNA-seq, researchers identified key host factors and responses that drive infection.
Read more: pmc.ncbi.nlm.nih.gov
Using CRISPR knockout screens and single-cell RNA-seq, researchers identified key host factors and responses that drive infection.
Read more: pmc.ncbi.nlm.nih.gov
Defining the host dependencies and the transcriptional landscape of RSV infection and bystander activation
Respiratory syncytial virus (RSV) is a globally prevalent pathogen, causes severe disease in older adults, and is the leading cause of bronchiolitis and pneumonia in the United States for children during their first year of life [1]. Despite its ...
pmc.ncbi.nlm.nih.gov
October 29, 2025 at 7:36 PM
RSV remains a global health challenge.
Using CRISPR knockout screens and single-cell RNA-seq, researchers identified key host factors and responses that drive infection.
Read more: pmc.ncbi.nlm.nih.gov
Using CRISPR knockout screens and single-cell RNA-seq, researchers identified key host factors and responses that drive infection.
Read more: pmc.ncbi.nlm.nih.gov
From all fields and corners of the map, IGVF members came together in Durham, NC. United by one mission, to understand how genomic variation influences function.
A huge thank you to the Durham Bulls Athletic Park for welcoming us and hosting a fantastic night of food, fun, and practice home runs! ⚾
A huge thank you to the Durham Bulls Athletic Park for welcoming us and hosting a fantastic night of food, fun, and practice home runs! ⚾
October 22, 2025 at 4:58 PM
From all fields and corners of the map, IGVF members came together in Durham, NC. United by one mission, to understand how genomic variation influences function.
A huge thank you to the Durham Bulls Athletic Park for welcoming us and hosting a fantastic night of food, fun, and practice home runs! ⚾
A huge thank you to the Durham Bulls Athletic Park for welcoming us and hosting a fantastic night of food, fun, and practice home runs! ⚾
How do genetic variants in brain vascular cells shape neurological disease risk?
With MultiVINE-seq, researchers mapped thousands of risk variants, revealing distinct mechanisms for cerebrovascular vs. neurodegenerative disorders—including Alzheimer’s.
www.cell.com/neuron/fullt...
With MultiVINE-seq, researchers mapped thousands of risk variants, revealing distinct mechanisms for cerebrovascular vs. neurodegenerative disorders—including Alzheimer’s.
www.cell.com/neuron/fullt...
Human brain vascular multi-omics elucidates disease-risk associations
Reid et al. develop MultiVINE-seq to map thousands of non-coding disease variants
to genes in human brain vascular cells. Cerebrovascular disease variants compromise
vessel integrity, whereas Alzheime...
www.cell.com
October 3, 2025 at 5:54 PM
How do genetic variants in brain vascular cells shape neurological disease risk?
With MultiVINE-seq, researchers mapped thousands of risk variants, revealing distinct mechanisms for cerebrovascular vs. neurodegenerative disorders—including Alzheimer’s.
www.cell.com/neuron/fullt...
With MultiVINE-seq, researchers mapped thousands of risk variants, revealing distinct mechanisms for cerebrovascular vs. neurodegenerative disorders—including Alzheimer’s.
www.cell.com/neuron/fullt...
How do cells respond to chemical and genetic perturbations?
A recent study introduces PerturbNet, a deep generative model that predicts how unseen drugs, CRISPR edits, or even missense mutations alter single-cell gene expression.
Read the full publication:
pmc.ncbi.nlm.nih.gov/articles/PMC...
A recent study introduces PerturbNet, a deep generative model that predicts how unseen drugs, CRISPR edits, or even missense mutations alter single-cell gene expression.
Read the full publication:
pmc.ncbi.nlm.nih.gov/articles/PMC...
PerturbNet predicts single-cell responses to unseen chemical and genetic perturbations
Chemical and genetic perturbations, such as those induced by small molecules and CRISPR, effect complex changes in the molecular states of cells. Despite advances in high-throughput single-cell pertur...
pmc.ncbi.nlm.nih.gov
September 26, 2025 at 8:20 PM
How do cells respond to chemical and genetic perturbations?
A recent study introduces PerturbNet, a deep generative model that predicts how unseen drugs, CRISPR edits, or even missense mutations alter single-cell gene expression.
Read the full publication:
pmc.ncbi.nlm.nih.gov/articles/PMC...
A recent study introduces PerturbNet, a deep generative model that predicts how unseen drugs, CRISPR edits, or even missense mutations alter single-cell gene expression.
Read the full publication:
pmc.ncbi.nlm.nih.gov/articles/PMC...