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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
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...
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
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...
Momentum and connections is exactly right!
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...
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
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/...
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
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...
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...
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-...
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 👏🏽
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.
Walk through a quick breakdown of how the study came together.
The YouTube tutorial gives a brief, step-by-step look at the 5️⃣ key phases, from nominating cCREs to CRISPRa validation in neurons and organoids.
Now live: youtu.be/mJCnNrWr4jI
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
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.
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.
🔍 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/...
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
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!
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
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! ⚾
We're live at #ASHG2025!
IGVF members are presenting across multiple sessions this week.
Check out where to find us and come say hi in Boston! 👋🏽
#ASHG2025 kicks off next week!
Keep an eye out for IGVF presentations and posters throughout the meeting.
See you in Boston!
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...
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...
ASHG 2025 is coming up! 🎉
Keep an eye out for IGVF talks and posters throughout the meeting.
We'll see you in Boston!
scE2G is a computational pipeline for predicting genome-wide enhancer–gene regulatory links using single-cell ATAC-seq or multiome data.
Explore the tool here: github.com/EngreitzLab/...
The IGVF Consortium began with one mission: to understand how genomic variation shapes genome function and influences health. Together, we’re building lasting resources for the research community.
igvf.org
