Nature geneticsPub Date : 2026-09-03DOI: 10.1038/s41588-026-02706-8
Seowon Chang, Alexander Fleischmann, Ying Ma
{"title":"Scalable, generalizable and uncertainty-aware integration of spatial multiomics across diverse modalities and platforms with SCIGMA.","authors":"Seowon Chang, Alexander Fleischmann, Ying Ma","doi":"10.1038/s41588-026-02706-8","DOIUrl":"https://doi.org/10.1038/s41588-026-02706-8","url":null,"abstract":"<p><p>Recent advances in spatial omics technologies have enabled simultaneous profiling of transcriptomic, proteomic, epigenomic, metabolomic and imaging data at high spatial resolution, offering unprecedented opportunities to dissect tissue complexity. However, integrating these diverse and large-scale spatial multimodal datasets remains a major computational challenge. We present SCIGMA, a scalable and generalizable deep learning framework for spatial multiomics integration. SCIGMA introduces an uncertainty-aware contrastive learning objective and multiview graph neural networks to preserve modality-specific signals while learning biologically meaningful joint representations. Unlike previous methods, SCIGMA provides spatially resolved uncertainty estimates, interpretably identifying regions of biological or technical heterogeneity. SCIGMA supports integration of up to five modalities, and its modular framework is extensible to future technologies with even more modalities. It also scales to more than 1 million spatial locations, enabling analysis of high-resolution datasets such as Visium HD and Xenium Prime. We evaluated SCIGMA across 19 datasets spanning 8 modalities, 10 tissues and 9 platforms. On benchmarkable datasets, SCIGMA outperformed other methods in spatial domain detection, modality preservation, feature reconstruction and reproducibility. SCIGMA identifies biologically meaningful structures, refined spatial domains and modality-specific regulatory programs, providing a robust, flexible and future-ready solution for scalable spatial multimodal integration.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-09-02DOI: 10.1038/s41588-026-02739-z
Matthew G Jones, Dawei Sun, Kyung Hoi Joseph Min, William N Colgan, Haoyu Wang, Tivadar Török, Juliano Ribeiro, Jessie Xue, Erik C Cardoso, Yao Rong, Luyi Tian, Jackson A Weir, Victor Z Chen, Luke W Koblan, Kathryn E Yost, Nicolas Mathey-Andrews, Edridge D'Souza, Andrew J C Russell, Robert R Stickels, Karol S Balderrama, William M Rideout, Min Dai, Giovanni Marrero, Vipin Kumar, Anjali Saqi, Benjamin Herzberg, Benjamin Izar, Howard Y Chang, Joo-Hyeon Lee, Tyler Jacks, Fei Chen, Jonathan S Weissman, Nir Yosef, Dian Yang
{"title":"Spatiotemporal lineage tracing reveals the dynamic spatial architecture of tumor growth and metastasis.","authors":"Matthew G Jones, Dawei Sun, Kyung Hoi Joseph Min, William N Colgan, Haoyu Wang, Tivadar Török, Juliano Ribeiro, Jessie Xue, Erik C Cardoso, Yao Rong, Luyi Tian, Jackson A Weir, Victor Z Chen, Luke W Koblan, Kathryn E Yost, Nicolas Mathey-Andrews, Edridge D'Souza, Andrew J C Russell, Robert R Stickels, Karol S Balderrama, William M Rideout, Min Dai, Giovanni Marrero, Vipin Kumar, Anjali Saqi, Benjamin Herzberg, Benjamin Izar, Howard Y Chang, Joo-Hyeon Lee, Tyler Jacks, Fei Chen, Jonathan S Weissman, Nir Yosef, Dian Yang","doi":"10.1038/s41588-026-02739-z","DOIUrl":"https://doi.org/10.1038/s41588-026-02739-z","url":null,"abstract":"<p><p>Tumor progression is driven by dynamic interactions between cancer cells and their surrounding microenvironment. Here we integrate high-resolution spatial transcriptomics and evolving lineage-tracing technologies to elucidate how tumor expansion, plasticity and metastasis co-evolve with microenvironmental remodeling in a Kras;Trp53-driven mouse model of lung adenocarcinoma. We find that subclonal expansion contributes to a hypoxic, immunosuppressive and fibrotic microenvironment that is associated with the emergence of prometastatic cancer cell states. We use tumor phylogeography to delineate intercellular interactions that are rewired in the expanding tumor niche and use co-culture systems to dissect how intercellular interactions and hypoxia influence cancer cell state. Furthermore, we find that metastases arise from spatially confined primary tumor subclones and remodel the distant metastatic niche into a fibrotic, collagen-rich microenvironment. Together, we present a comprehensive dataset integrating spatial assays and lineage tracing to elucidate how sequential changes in cancer cell state and microenvironmental structures cooperate to promote tumor progression.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mechanisms and functional implications of long-range enhancer-dependent gene regulation.","authors":"Marianna Iliadou, Endika Haro, Alvaro Rada-Iglesias","doi":"10.1038/s41588-026-02721-9","DOIUrl":"https://doi.org/10.1038/s41588-026-02721-9","url":null,"abstract":"<p><p>Metazoan development relies on the coordinated establishment of diverse gene regulatory programs that drive the formation of specific cell types, tissues and organs. The temporal and spatial control of gene expression is achieved through the concerted activity of multiple classes of cis-regulatory elements encoded in the genome. Among these, enhancers enable the establishment of specific and precise gene expression patterns and control gene expression over long linear distances, a property often referred to as distance-independent regulatory activity. However, enhancer activity is, in fact, inversely correlated with linear genomic distance, and target gene expression and transcriptional precision decrease with increasing enhancer-promoter linear distances. Here, we highlight emerging insights into multiple mechanisms that enable enhancers to precisely and robustly activate gene expression across large genomic distances. Finally, we provide a more speculative perspective on the potential advantages that long-range regulation might confer during the establishment of developmental gene expression programs.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-09-01DOI: 10.1038/s41588-026-02726-4
Carles Foguet, Laurent Gil, Yu Xu, Sofía Salazar-Magaña, Scott C Ritchie, Elodie Persyn, Hae Kyung Im, Michael Inouye, Samuel A Lambert
{"title":"OmicsPred as a centralized resource for genetic prediction of multi-omic traits.","authors":"Carles Foguet, Laurent Gil, Yu Xu, Sofía Salazar-Magaña, Scott C Ritchie, Elodie Persyn, Hae Kyung Im, Michael Inouye, Samuel A Lambert","doi":"10.1038/s41588-026-02726-4","DOIUrl":"https://doi.org/10.1038/s41588-026-02726-4","url":null,"abstract":"","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-09-01DOI: 10.1038/s41588-026-02725-5
Mor Zada, Anna Kurilovich, Noam Shapira, Shuang-Yin Wang, Reut Sharet-Eshed, Shlomit Kfir-Erenfeld, Miriam Schlossberg, Elina Zorde, Nathalie Asherie, Chamutal Gur, Paulina Chalan, Rotem Shalita, Maya Ben Yehuda, Pascale Zwicky, Michelle von Locquenghien, Florian Ingelfinger, Kfir Mazuz, Eyal David, Anna Gurevich-Shapiro, Natan Melamed, Iuliana Vaxman, Irit Avivi, Assaf Weiner, Polina Stepensky, Yael Cohen, Ido Amit
{"title":"A single-cell atlas of multiple myeloma defines malignant archetypes and proliferative states.","authors":"Mor Zada, Anna Kurilovich, Noam Shapira, Shuang-Yin Wang, Reut Sharet-Eshed, Shlomit Kfir-Erenfeld, Miriam Schlossberg, Elina Zorde, Nathalie Asherie, Chamutal Gur, Paulina Chalan, Rotem Shalita, Maya Ben Yehuda, Pascale Zwicky, Michelle von Locquenghien, Florian Ingelfinger, Kfir Mazuz, Eyal David, Anna Gurevich-Shapiro, Natan Melamed, Iuliana Vaxman, Irit Avivi, Assaf Weiner, Polina Stepensky, Yael Cohen, Ido Amit","doi":"10.1038/s41588-026-02725-5","DOIUrl":"https://doi.org/10.1038/s41588-026-02725-5","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a plasma-cell malignancy with extensive genomic and transcriptional heterogeneity, limiting disease classification and precision therapy. Here we generated a clinically annotated, population-scale, single-cell atlas of MM from 341 individuals spanning the disease and treatment continuum. We identified five recurrent malignant transcriptional archetypes and an orthogonal proliferative program associated with genomic features, therapeutic resistance and clinical outcomes. Validation in the independent CoMMpass cohort demonstrated robustness, prognostic relevance and portability across platforms. We developed a single-cell, target-discovery pipeline prioritizing malignant enrichment, cell-type specificity and tissue restriction, identifying FCRL2 as a plasma-restricted or B cell-lineage-restricted surface target expressed by malignant plasma cells. FCRL2-targeted chimeric antigen receptor T cells demonstrated antigen-specific activity in vitro and survival benefit in vivo. Together, these data provide a clinically actionable blueprint for patient stratification and precision target nomination in plasma-cell malignancies.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-08-31DOI: 10.1038/s41588-026-02730-8
Ben Vanderkruk, Shelley L Berger
{"title":"From single-site to pan-histone lysine mutagenesis in mammals.","authors":"Ben Vanderkruk, Shelley L Berger","doi":"10.1038/s41588-026-02730-8","DOIUrl":"https://doi.org/10.1038/s41588-026-02730-8","url":null,"abstract":"","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148865900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-08-27DOI: 10.1038/s41588-026-02722-8
Nuzulul Kurniansyah, Shinya Tasaki, Habbibur Rehman, Congcong Zhu, John Farrell, Richard Sherva, Richard Hauger, Victoria C Merritt, Matthew Panizzon, Rui Zhang, J Michael Gaziano, Jungsoo Gim, Kunho Lee, Dong Yong Lee, Kwansik Nho, Ricardo A Vialle, Shubhabrata Mukherjee, Emily H Trittschuh, Annie J Lee, Adam M Brickman, Carlos Cruchaga, Shannon Risacher, Douglas N Greve, Paul Crane, Eden Martin, William S Bush, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Mark Logue, David A Bennett, Lisa L Barnes, Andrew Saykin, Timothy Hohman, Li-San Wang, Gerard D Schellenberg, Ting Fang Alvin Ang, Rhoda Au, Jesse Mez, Kathryn L Lunetta, Xiaoling Zhang, Lindsay A Farrer
{"title":"A multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations.","authors":"Nuzulul Kurniansyah, Shinya Tasaki, Habbibur Rehman, Congcong Zhu, John Farrell, Richard Sherva, Richard Hauger, Victoria C Merritt, Matthew Panizzon, Rui Zhang, J Michael Gaziano, Jungsoo Gim, Kunho Lee, Dong Yong Lee, Kwansik Nho, Ricardo A Vialle, Shubhabrata Mukherjee, Emily H Trittschuh, Annie J Lee, Adam M Brickman, Carlos Cruchaga, Shannon Risacher, Douglas N Greve, Paul Crane, Eden Martin, William S Bush, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Mark Logue, David A Bennett, Lisa L Barnes, Andrew Saykin, Timothy Hohman, Li-San Wang, Gerard D Schellenberg, Ting Fang Alvin Ang, Rhoda Au, Jesse Mez, Kathryn L Lunetta, Xiaoling Zhang, Lindsay A Farrer","doi":"10.1038/s41588-026-02722-8","DOIUrl":"10.1038/s41588-026-02722-8","url":null,"abstract":"<p><p>Previously derived polygenic risk scores (PRSs) for Alzheimer's disease (AD) perform inconsistently across diverse ancestries. We developed an APOE-independent multiancestry AD PRS using genome-wide association study summary statistics applied to European ancestry, African American, Caribbean Hispanic and East Asian cohorts. PRS performance was evaluated in a large independent multiancestry dataset and validated in several additional multiancestry cohorts. The PRS was significantly associated with AD in European ancestry, African American, Caribbean Hispanic and Native American Hispanic groups with adjusted odds ratios between 1.14 and 1.52 per PRS standard deviation. PRS performance was validated in the replication cohorts (odds ratios: 1.21-1.65). The PRS was also associated with poorer memory, executive function and language performance, greater AD-related neuropathological burden, reduced hippocampal volume, lower cerebrospinal fluid amyloid-β<sub>42</sub> and elevated total tau and phosphorylated tau, with stronger phosphorylated tau associations observed in women. Our findings support the value of ancestry-aware PRSs as a component of broader multimodal risk stratification frameworks.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-08-26DOI: 10.1038/s41588-026-02735-3
Damian J Woodward, William R Reay, Briar Wormington, Santiago Diaz-Torres, Jue-Sheng Ong, Zachary F Gerring, Jackson G Thorp, Eske M Derks
{"title":"Dissecting pleiotropy between major depressive disorder and physical disease comorbidities.","authors":"Damian J Woodward, William R Reay, Briar Wormington, Santiago Diaz-Torres, Jue-Sheng Ong, Zachary F Gerring, Jackson G Thorp, Eske M Derks","doi":"10.1038/s41588-026-02735-3","DOIUrl":"https://doi.org/10.1038/s41588-026-02735-3","url":null,"abstract":"<p><p>Major depressive disorder (MDD) is characterized by substantial comorbidity with medical conditions. To achieve better outcomes for patients with MDD, an improved understanding of the mechanisms underlying pervasive comorbidities is required. Here, to this end, we mapped patterns of pleiotropy by defining four clusters of physical diseases (cardiovascular, metabolic, gastrointestinal and immune) and analyzed their genetic relationships with MDD using genomic structural equation modeling. Three disease clusters exhibited independent associations with MDD and accounted for 47% of MDD h<sup>2</sup><sub>SNP</sub>, with the gastrointestinal disease cluster having the strongest association (β = 0.63, s.e. = 0.05, P = 3.04 × 10<sup>-30</sup>). In addition, we identified independent loci associated with the shared genetic liability between each disease cluster and MDD, revealing different pleiotropic components. Characterization of these loci revealed previously unidentified associations with MDD and physical disease traits, along with unique biological pathways, drug groups, cell types and genes associated with each disease-MDD cluster. Our findings reveal genetic connections implicating the gut-brain axis as a key mechanism underlying the comorbidity of physical diseases in MDD. This work advances our understanding of MDD by highlighting unique and shared genetic components across different disease systems.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148830696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nature geneticsPub Date : 2026-08-26DOI: 10.1038/s41588-026-02714-8
Pasquale Laise, Mikko Turunen, Alvaro Curiel-Garcia, Lorenzo Tomassoni, H Carlo Maurer, Ela Elyada, Bernhard Schmierer, Jeremy Worley, Jordan Kesner, Xiangtian Tan, Ester Calvo Fernandez, Yuanqing Xue, Yining Chen, Kelly Wong, Urszula N Wasko, Somnath Tagore, Alexander L E Wang, Sabrina Ge, Alina C Iuga, Aaron T Griffin, Winston Wong, Gulam A Manji, Mariano J Alvarez, Faiyaz Notta, David A Tuveson, Kenneth P Olive, Andrea Califano
{"title":"Developmental and MAPK-responsive transcription factors regulate distinct malignant cell states and associated genetic dependencies in pancreatic cancer.","authors":"Pasquale Laise, Mikko Turunen, Alvaro Curiel-Garcia, Lorenzo Tomassoni, H Carlo Maurer, Ela Elyada, Bernhard Schmierer, Jeremy Worley, Jordan Kesner, Xiangtian Tan, Ester Calvo Fernandez, Yuanqing Xue, Yining Chen, Kelly Wong, Urszula N Wasko, Somnath Tagore, Alexander L E Wang, Sabrina Ge, Alina C Iuga, Aaron T Griffin, Winston Wong, Gulam A Manji, Mariano J Alvarez, Faiyaz Notta, David A Tuveson, Kenneth P Olive, Andrea Califano","doi":"10.1038/s41588-026-02714-8","DOIUrl":"https://doi.org/10.1038/s41588-026-02714-8","url":null,"abstract":"<p><p>There is broad consensus that the malignant epithelial cells of human pancreatic ductal adenocarcinoma (PDA) comprise multiple, molecularly distinct states. Yet precise characterization of how these are regulated-including their mechanistic determinants, dependencies, plasticity and functional properties-remains elusive. Single-cell master regulator (MR) analysis of multiple PDA cohorts identified malignant cells in three co-existing, molecularly distinct developmental lineage states, with distinct histopathological morphologies and spatial architecture. These include a poorly differentiated lineage driven by epithelial-mesenchymal-transition-related MRs and two well-differentiated states driven by gastrointestinal epithelial development and pancreatic development MRs, respectively. Furthermore, each state comprises two epigenetically distinct substates with low versus high MAPK signaling activity. Barcode-based lineage tracing confirmed both spontaneous and treatment-dependent cross-state plasticity. Furthermore, loss-of-function studies confirmed state-specific MR essentiality, while their ectopic expression effectively reprogrammed cell state, in vitro and in vivo, thus providing a mechanism-based foundation for PDA heterogeneity and a roadmap for pharmacological targeting.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148830743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prediction of human missense variant effects from functional evidence.","authors":"Barış Kayaalp, Kerem Çil, Clément Conil, Aurélie Cobat, Meltem Ece Kars, Yuval Itan, Jean-Laurent Casanova, Tayfun Özçelik","doi":"10.1038/s41588-026-02727-3","DOIUrl":"10.1038/s41588-026-02727-3","url":null,"abstract":"<p><p>Prediction of missense variant effects remains a critical bottleneck in both research and diagnostic genetics. Current predictors typically rely on clinical outcomes or population patterns rather than direct measures of functional impact, leading to limited generalizability and data circularity. Here we present FuncVEP, a family of variant effect predictors trained on diverse functional data to predict the functional impact of missense variants. FuncVEP generalizes across datasets and outperforms 48 existing predictors across a wide range of benchmarks, improving accuracy from 78.8% to 84.6% on functional benchmarks and from 90.1% to 92.4% on clinical benchmarks. From a discovery perspective, we identified 210 new gene-phenotype associations involving 494 genes linked to inborn errors of immunity in the UK Biobank and the Mount Sinai Million Health Discoveries Program. FuncVEP substantially improved the discovery rate relative to state-of-the-art predictors. Overall, FuncVEP provides a robust, scalable solution for variant interpretation, advancing both diagnostic precision and gene discovery.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":" ","pages":""},"PeriodicalIF":25.5,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148830681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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