Most Recent Articles: Genome Medicinehttps://genomemedicine.biomedcentral.comMost Recent Articles: Genome MedicineStructural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traitshttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01444-6Alzheimer’s disease (AD) is a complex neurodegenerative disorder with substantial genetic influence. While genome-wide association studies (GWAS) have identified numerous risk loci for late-onset AD (LOAD), th...ResearchTue, 04 Mar 2025 00:00:00 GMThttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01444-6Ricardo A. Vialle, Katia de Paiva Lopes, Yan Li, Bernard Ng, Julie A. Schneider, Aron S. Buchman, Yanling Wang, Jose M. Farfel, Lisa L. Barnes, Aliza P. Wingo, Thomas S. Wingo, Nicholas T. Seyfried, Philip L. De Jager, Chris Gaiteri, Shinya Tasaki and David A. Bennett2025-03-04T00:00:00ZGenomic insights into the plasmidome of non-tuberculous mycobacteriahttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01443-7Non-tuberculous mycobacteria (NTM) are a diverse group of environmental bacteria that are increasingly associated with human infections and difficult to treat. Plasmids, which might carry resistance and virule...ResearchTue, 04 Mar 2025 00:00:00 GMThttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01443-7Margo Diricks, Florian P. Maurer, Viola Dreyer, Ivan Barilar, Christian Utpatel, Matthias Merker, Nils Wetzstein and Stefan Niemann2025-03-04T00:00:00ZSTModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapeshttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01441-9Here we present STModule, a Bayesian method developed to identify tissue modules from spatially resolved transcriptomics that reveal spatial components and essential characteristics of tissues. STModule uncove...MethodologyMon, 03 Mar 2025 00:00:00 GMThttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01441-9Ran Wang, Yan Qian, Xiaojing Guo, Fangda Song, Zhiqiang Xiong, Shirong Cai, Xiuwu Bian, Man Hon Wong, Qin Cao, Lixin Cheng, Gang Lu and Kwong Sak Leung2025-03-03T00:00:00ZNon-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityhttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01440-wWe recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism. These variants lead to a loss of repression...ResearchMon, 03 Mar 2025 00:00:00 GMThttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01440-wJasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange…2025-03-03T00:00:00ZLETSmix: a spatially informed and learning-based domain adaptation method for cell-type deconvolution in spatial transcriptomicshttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01442-8Spatial transcriptomics (ST) enables the study of gene expression in spatial context, but many ST technologies face challenges due to limited resolution, leading to cell mixtures at each spot. We present LETSm...MethodologyFri, 28 Feb 2025 00:00:00 GMThttps://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01442-8Yangen Zhan, Yongbing Zhang, Zheqi Hu, Yifeng Wang, Zirui Zhu, Sijing Du, Xiangming Yan and Xiu Li2025-02-28T00:00:00Z