Genome-wide association study reveals a novel tuberculosis susceptibility locus in multiple East Asian and European populations [0.03%]
全基因组关联研究揭示多个东亚和欧洲人群中的新型结核分枝杆菌易感位点
Xuling Chang,Zheng Li,Phan Vuong Khac Thai et al.
Xuling Chang et al.
Background: Tuberculosis (TB) continues to be a leading cause of morbidity and mortality worldwide. Although numerous genome-wide association studies (GWAS) have explored TB susceptibility across various ethnic groups, mu...
Meta-Analysis
Genome medicine. 2026 May 27;18(1):71. DOI:10.1186/s13073-026-01670-6 2026
Enhanced measures of neoantigenicity capture unique tumor-immune interactions across primary melanoma subtypes [0.03%]
改进的新生抗原测量标准可捕获主要黑色素瘤亚型中独特的肿瘤免疫相互作用
Eva R Shteinman,Grace H Attrill,Nigel G Maher et al.
Eva R Shteinman et al.
Background: As immune checkpoint inhibitor therapies move toward treatment of clinically high-risk localized primary melanoma, there is an increasing need for clear understanding of the tumor-immune interaction across pri...
GWAS-by-subtraction reveals new genetic architecture and health implications of type 2 diabetes-independent gestational diabetes mellitus [0.03%]
基于减法的GWAS揭示了独立于2型糖尿病的妊娠期糖尿病的新遗传结构及健康影响
Siquan Zhou,Zhichang Ran,Yanliu Li et al.
Siquan Zhou et al.
Background: The etiology of gestational diabetes mellitus (GDM) is constituted by both type 2 diabetes (T2D)-dependent and T2D-independent mechanisms. However, existing studies have evaluated the impact of T2D-dependent l...
Pervasive chromosomal instability drives the karyotypic evolution of hypodiploid tumours [0.03%]
弥漫性染色体不稳定性驱动低二倍体肿瘤的核型进化
Elle Loughran,Aoife McLysaght,Máire Ní Leathlobhair
Elle Loughran
Background: Tumours frequently exhibit extreme levels of aneuploidy. While increases in ploidy are well-characterised, the opposite phenomenon-extensive chromosome loss leading to hypodiploidy-remains underexplored. ...
From text to translation: using language models to prioritize variants for clinical review [0.03%]
从文本到翻译：使用语言模型优先审查临床变异式
Weijiang Li,Xiaomin Li,Ethan Lavallee et al.
Weijiang Li et al.
Background: Despite rapid advances in genomic sequencing, most rare coding variants remain insufficiently characterized for clinical use, limiting the potential of personalized medicine. When classifying whether a variant...
Genome-wide meta-analysis across East Asian and European populations provides insights into the molecular basis of lung cancer [0.03%]
基于东亚和欧洲人群的全基因组元分析为肺癌的分子发病机制提供新见解
Meng Zhu,Caochen Zhang,Yuting Han et al.
Meng Zhu et al.
Background: The genetic architecture of lung cancer (LC) varies substantially across populations. However, the limited ancestral diversity of existing discovery cohorts hampers comprehensive characterization of ancestry-s...
DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification [0.03%]
基于DNA甲基化生物标志物的泛癌症分类器：癌症预测建模及分类
Jan Bińkowski,Tomasz K Wojdacz
Jan Bińkowski
Background: Machine-learning (ML) driven molecular diagnostics based on omics data has a potential to revolutionize personalized medicine. However, implementation of ML into diagnostic protocols is hindered by methodologi...
Multi-omics profiling of the diabetic human heart reveals coupled dysregulation in lipid metabolism, mitophagy, and extracellular matrix remodeling [0.03%]
糖尿病人心脏的多组学分析揭示了脂质代谢、线粒体自噬和细胞外基质重塑的协同失调
Qiuhan Lu,Shulin Tang,Sijia Fang et al.
Qiuhan Lu et al.
Background: Diabetic cardiomyopathy (DbCM) is a major complication of type 2 diabetes whose molecular basis in human hearts remains poorly understood. This study aimed to define the multi-omics landscape of DbCM in the hu...
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders [0.03%]
未加工的U1小核RNA可作为INTS11和BRAT1相关神经发育障碍的生物标志物
Beatrice Valtorta,Zuzana Polackova,Reza Maroofian et al.
Beatrice Valtorta et al.
Background: Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically ...
Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration [0.03%]
诱导多能干细胞识别年龄相关性黄斑变性网状假视网膜症表型的特异性
Jenna C Hall,Kavitha Krishna Sudhakar,Maciej Daniszewski et al.
Jenna C Hall et al.
Background: Age-related macular degeneration (AMD) is a leading cause of vision loss. Reticular pseudodrusen (RPD), deposits on the apical side of the retinal pigment epithelium (RPE), signify a distinctive and critical A...