https://bsky.app/profile/igvfconsortium.bsky.socialhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mx5atfxadc2wIGVF 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. https://www.biorxiv.org/content/10.64898/2026.02.14.705848v205 Oct 2026 15:40 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mx5atfxadc2whttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mwtwjtvqc22fExplore the IGVF outreach page for workshops, informational videos, and links to the IGVF Data Portal, resources, and Catalog. igvf.org/outreach/ https://igvf.org/outreach/01 Oct 2026 22:41 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mwtwjtvqc22fhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mwbp4x4xz22tSEEK-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 results, especially when signals are weak. https://www.biorxiv.org/content/10.64898/2025.12.12.693799v224 Sep 2026 16:41 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mwbp4x4xz22thttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mv4bgq36b22pThe Integrative Analysis Working Group brings together multimodal IGVF data to define variant function, resolve assay discrepancies, characterize pleiotropic effects, and develop models to predict and interpret variant function.  Explore this and other IGVF working groups: https://igvf.org/working-groups/09 Sep 2026 19:27 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mv4bgq36b22phttps://bsky.app/profile/igvfconsortium.bsky.social/post/3muid4x4m5s2vHow 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: https://www.biorxiv.org/content/10.1101/2025.11.21.689845v201 Sep 2026 21:05 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3muid4x4m5s2vhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mu5xskhgfk23MPRAsnakeflow 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. https://genome.cshlp.org/content/early/2026/08/10/gr28146212528 Aug 2026 18:15 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mu5xskhgfk23https://bsky.app/profile/igvfconsortium.bsky.social/post/3mtysanwzgk2zHow 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/40514537/ https://pubmed.ncbi.nlm.nih.gov/40514537/26 Aug 2026 16:52 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mtysanwzgk2zhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mtjyur6yjc2kExplore 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. https://github.com/Hon-lab/pySpade20 Aug 2026 19:41 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mtjyur6yjc2khttps://bsky.app/profile/igvfconsortium.bsky.social/post/3msym5m7i422rOur 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.  https://igvf.org/high-level-consortium-map/13 Aug 2026 21:38 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3msym5m7i422rhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3msjc3lfok223Demuxafy 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-detecting-docs.readthedocs.io/en/latest/ https://demultiplexing-doublet-detecting-docs.readthedocs.io/en/latest/07 Aug 2026 19:28 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3msjc3lfok223https://bsky.app/profile/igvfconsortium.bsky.social/post/3msgayftph22jAn 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: https://github.com/pinellolab/CRISPR-SURF06 Aug 2026 14:31 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3msgayftph22jhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mrvbqwyzhk2sUtilize 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 https://data.igvf.org/30 Jul 2026 20:29 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mrvbqwyzhk2shttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mrgb4hzhw22aFastGxC 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: https://www.cell.com/cell-genomics/fulltext/S2666-979X%2826%2900112-624 Jul 2026 21:08 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mrgb4hzhw22ahttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mrb5m5l4w22dExplore 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: www.youtube.com/@igvf https://www.youtube.com/@igvf22 Jul 2026 20:21 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mrb5m5l4w22dhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mqmwv53nzs2wUnderstanding sequencing library structure is essential for accurate genomics data processing. seqspec provides a machine-readable specification that standardizes library descriptions, improving preprocessing, reproducibility, and assay comparisons.  Learn more: https://academic.oup.com/bioinformatics/article/40/4/btae168/764153514 Jul 2026 19:28 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mqmwv53nzs2whttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mqagh5rwlc2fIGVF is building resources to better understand how genomic variation influences genome function and human health through predictive modeling, functional characterization, mapping, networking, and shared data resources. Learn more about our initiative: www.igvf.org/about/09 Jul 2026 20:02 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mqagh5rwlc2fhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mpoyhx2yys2rFastGxC is a tool for identifying context-specific genetic effects from single-cell and bulk RNA-seq data. By modeling repeated samples from the same individual, it improves detection power and remains robust even with missing data. Explore the tool: https://github.com/BalliuLab/FastGxC02 Jul 2026 21:37 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mpoyhx2yys2rhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mp575qbfck2bNew preprint! 📢 PerturbPlan introduces an analytical framework for designing Perturb-seq and TAP-seq experiments, reducing power calculation runtimes by up to seven orders of magnitude and enabling interactive experimental design. https://www.biorxiv.org/content/10.64898/2026.05.22.727199v125 Jun 2026 19:48 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mp575qbfck2bhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3moo4uuxvrc2tA recent preprint presents an MPRA framework that assays cis-regulatory elements alongside their target promoter, providing a functional map of 1,214 CYP3A4 regulatory variants and insights into gene regulation, drug response, and disease. Read more: https://www.biorxiv.org/content/10.64898/2026.04.22.719677v1.full19 Jun 2026 19:57 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3moo4uuxvrc2thttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mog5wgku4c2kExplore the IGVF YouTube channel for workshop recordings, research presentations, consortium updates, and insights from scientists working to understand how genomic variation impacts genome function. www.youtube.com/@igvf https://www.youtube.com/@igvf16 Jun 2026 15:55 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mog5wgku4c2khttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mnuwe6pjwc2tMPRA is an R package that provides tools for the differential analysis of Massively Parallel Reporter Assay (MPRA) data, helping researchers investigate regulatory element activity at scale. Explore MPRA: github.com/hansenlab/mpra https://github.com/hansenlab/mpra09 Jun 2026 19:24 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mnuwe6pjwc2thttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mnfust25es2lLooking for information on a gene, variant, or genomic region? The IGVF catalog brings together experimental data and computational predictions from the IGVF Consortium and other resources on a single searchable platform. catalog.igvf.org https://catalog.igvf.org/03 Jun 2026 19:47 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mnfust25es2lhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mmwl3yjilc2aHear from Andreas Gschwind, PhD, as he highlights enhancer-gene mapping, CRISPR perturbation data, predictive models, and tools within the IGVF catalog.  youtu.be/jVxcwRXZYMc https://youtu.be/jVxcwRXZYMc28 May 2026 17:43 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mmwl3yjilc2ahttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mmhk3rj4as2aHow can researchers access and build on IGVF resources?  In this workshop presentation, Michael Love, PhD, highlights the IGVF data portal, catalog, APIs, and computational tools supporting reproducible functional genomics research. youtu.be/W6Mr7O7gUNY https://youtu.be/W6Mr7O7gUNY22 May 2026 18:15 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mmhk3rj4as2ahttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mm7zv5kwps2nIGVF has adopted seqspec, a machine-readable standard helping improve reproducibility, transparency, and interoperability across functional genomics datasets. Learn how seqspec is supporting scalable data sharing and QC across IGVF: igvf.org/news/seqspec/ https://igvf.org/news/seqspec/19 May 2026 18:36 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mm7zv5kwps2nhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mlt7o5qvyk2dRoulette is a basepair-resolution model for predicting germline de novo mutation rates across the human genome, helping uncover mechanisms that shape mutagenesis, including the impact of Polymerase III transcription.  Explore the tool: https://github.com/vseplyarskiy/Roulette14 May 2026 16:15 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mlt7o5qvyk2dhttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mloaliejic2cHear from Karen Mohlke, PhD, as she introduces the IGVF Consortium and its efforts to build a functional genomics resource connecting genetic variation to genome function and disease.  Check out the full presentation: https://youtu.be/CbCILxe_eSI?si=npht1IRlKUMfdx6y12 May 2026 16:48 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mloaliejic2chttps://bsky.app/profile/igvfconsortium.bsky.social/post/3ml7gjaqv222gWhy build a comprehensive variant effects catalog? Katherine Degner, PhD, explains how a trusted, centralized resource can help researchers explore how genes impact different tissues and cell types, all in one place. ▶️ youtu.be/Iof2mfE6sRM https://youtu.be/Iof2mfE6sRM06 May 2026 19:24 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3ml7gjaqv222ghttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mkq7a5ang22tSaturation genome editing of BARD1 variants resolves 95% of variants of uncertain significance, linking functional effects to cancer risk with high accuracy (AUC=0.99). Uncover the science behind it: https://www.medrxiv.org/content/10.1101/2025.11.03.25339440v130 Apr 2026 18:04 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mkq7a5ang22thttps://bsky.app/profile/igvfconsortium.bsky.social/post/3mkbh6tigkk24New preprint: Transcription factor collaboration shapes CD8+T cell states. Large-scale TF screens and single-cell profiling map regulatory programs and interactions (including RUNX–KLF2) that inform T cell exhaustion and potential cell therapy strategies. Read more: https://www.biorxiv.org/content/10.64898/2026.04.20.718569v124 Apr 2026 21:17 +0000at://did:plc:upsvvmxqu3m2vbyjm6ms3ma4/app.bsky.feed.post/3mkbh6tigkk24