Impact of Genomic Variation on Function Consortium
Joined April 2022
- Tweets154
- Following106
- Followers436
- Likes3
As ASHG 2026 wraps up tomorrow, stop by the 2:30 - 4:30PM poster session to explore research from IGVF members.
Visit the IGVF at ASHG page for poster details!
igvf.org/news/igvf-ashg2026/
Explore FRACTEL, a computational tool that identifies significant discoveries at the element level by combining individual p-values using Robust Rank Aggregation (RRA).
Access the tool: github.com/Gersbachlab-Bioin…
ASHG 2026 is just one week away!
IGVF members will be presenting their research throughout the meeting. Stay tuned for more details to help you plan your time at ASHG and connect with IGVF.
Calling researchers in functional genomics, computational biology, imaging, and generative AI to explore the CM4AI AnVIL Cell Map Prediction DREAM Challenge, launching October 19!
Participants will develop models to predict protein localization in cells.
synapse.org/Synapse:syn77349…
IGVF researchers developed a scalable approach to interpret uncertain genetic variants.
Using experimental and predictive evidence, the team reclassified 75% of 16,115 VUS and preclassified 62% of >90,000 unobserved variants.
biorxiv.org/content/10.64898…
Explore the IGVF outreach page for workshops, informational videos, and links to the IGVF Data Portal, resources, and Catalog.
igvf.org/outreach/
SEEK-VEC is a new framework for finding hidden patterns in count-based data.
By combining multiple topic models, it helps identify key terms, uncover relationships, and assess model results, especially when signals are weak.
biorxiv.org/content/10.64898…
The Integrative Analysis Working Group brings together multimodal IGVF data to define variant function, resolve assay discrepancies, characterize pleiotropic effects, & develop models to predict and interpret variant function.
Explore IGVF working groups: igvf.org/working-groups/
How specific is a gene to a cell type, tissue, or condition?
This preprint introduces ember, a principled approach to measuring gene specificity, with applications across mouse tissues and human PBMCs.
Uncover the science behind it:
biorxiv.org/content/10.1101/…
MPRAsnakeflow enables standardized, reproducible processing and analysis of MPRA data.
Developed by the IGVF Consortium, the tool and community standards support robust integration of diverse datasets for regulatory genomics.
genome.cshlp.org/content/ear…
How do genetic variants affect secreted proteins?
A new study introduces MultiSTEP, a scalable method for measuring variant effects in coagulation factor IX. The approach assessed >8,500 F9 missense variants and helped reclassify 63.1% of VUSs.
pubmed.ncbi.nlm.nih.gov/4051…
Explore pySpade, a computational tool for whole-transcriptome analysis of single-cell perturbation datasets.
Using Cell Ranger output, pySpade identifies differential expression and generates hit tables and Manhattan plots.
github.com/Hon-lab/pySpade
Our interactive high-level consortium map lets you explore the experiments, teams, and technologies that make up IGVF.
Explore the map to see the connections between experiments, teams, and technologies.
igvf.org/high-level-consorti…
Demuxafy streamlines demultiplexing and doublet detection for droplet-based scRNA-seq, giving users the flexibility to choose and efficiently run methods best suited to their dataset.
Explore the tool: demultiplexing-doublet-detec…
An open-source framework for exploring functional genomic regions through an interactive web app or command-line tool. Design and analyze CRISPR-Cas, CRISPRi, and CRISPRa tiling screens with CRISPR-SURF.
Explore the tool: github.com/pinellolab/CRISPR…
Utilize the IGVF Data Portal to access research data, software, predictive models, and genomic resources generated by the IGVF Consortium.
From raw sequencing data to analyzed results, discover data driving functional genomics: data.igvf.org/
FastGxC enables fast, powerful mapping of context-specific eQTLs from bulk and single-cell RNA-seq data, improving trait interpretation while expanding candidate causal genes.
Explore the study: cell.com/cell-genomics/fullt…
Explore the IGVF YouTube channel for workshops, Q&A sessions, presentations, and more. Hear directly from consortium members and discover resources that support functional genomics research.
Watch here: youtube.com/@igvf
Understanding sequencing library structure is crucial to accurate genomics data processing.
seqspec provides a machine-readable specification that standardizes library descriptions, improving preprocessing, reproducibility, & assay comparisons.
Read more
academic.oup.com/bioinformat…
Building on the seqspec framework, IGVF has adopted the first formal data standard used across all consortium datasets, advancing reproducible, interoperable genomics research.
Learn how we’re putting seqspec into practice: igvf.org/news/seqspec/