Comprehensive profiling of tsRNAs in acute coronary syndrome: expression patterns, clinical correlations, and functional insights [0.03%]
急性冠脉综合征中tsRNA的全面分析：表达模式、临床相关性及功能研究
Yi He,Jing Wang,Chen Chen et al.
Yi He et al.
Transfer RNA-derived small RNAs (tsRNAs) have emerged as potential biomarkers of various human diseases. However, the clinical utility and biological functions of tsRNA in acute coronary syndrome (ACS) remain poorly understood. To investiga...
A latent outcome variable approach for Mendelian randomization using the stochastic expectation maximization algorithm [0.03%]
一种使用随机期望最大化算法进行孟德尔随机化的方法
Lamessa Dube Amente,Natalie T Mills,Thuc Duy Le et al.
Lamessa Dube Amente et al.
Mendelian randomization (MR) is a widely used tool to uncover causal relationships between exposures and outcomes. However, existing MR methods can suffer from inflated type I error rates and biased causal effects in the presence of invalid...
Elisa Bregant,Elena Betto,Chiara Dal Secco et al.
Elisa Bregant et al.
Hereditary ataxia (HA) is a heterogeneous group of complex neurological disorders, which represent a diagnostic challenge due to their diverse phenotypes and genetic etiologies. Next-generation sequencing (NGS) has revolutionized the field ...
Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review [0.03%]
医务人员的无创性产前检测的观点和经历：系统回顾
Chanelle Warton,Danya F Vears
Chanelle Warton
Background: The increasing integration of non-invasive prenatal testing (NIPT) into antenatal practice and public healthcare systems globally raises both significant challenges in standardising service delivery and import...
Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development [0.03%]
组蛋白H3K36甲基转移酶NSD1和SETD2在大脑发育中是必需的
Bo Chen,Chenyang Zhang,Huanwen Rui et al.
Bo Chen et al.
Genetic variants in two major histone H3K36 methyltransferases, NSD1 and SETD2, have been identified in patients with neurodevelopmental disorders. We examined the genetic nature of these disease-relevant variants and studied genotype-pheno...
Letter to the editor [0.03%]
致编辑的信
Wouter H van der Valk,Winnie M C van den Boogaard,Esther Fousert et al.
Wouter H van der Valk et al.
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project [0.03%]
加速色素性视网膜炎的遗传诊断：香港基因组计划中半自动化定制队列分析工作流程的实现
Dingge Ying,Jamie Sui Lam Kwok,Annie Tsz Wai Chu et al.
Dingge Ying et al.
The study aims to enhance the efficiency of the genetic variant curation process at the Hong Kong Genome Institute by developing a Semi-Automated Bespoke Cohort Analysis Workflow (S-BCAW) for patients with, or suspected to have, retinitis p...
Georg F Vogel,Katharina M C Klee,Arzu Meltem Demir et al.
Georg F Vogel et al.
Ezrin, encoded by EZR, is a central module of epithelial polarity and links membrane proteins to the actin cytoskeleton directly or indirectly through scaffold proteins in the epithelium. Ezrin knockout mice fail to thrive and do not surviv...
Critical assessment of missense variant effect predictors on disease-relevant variant data [0.03%]
对错义变异效应预测因子在疾病相关变异数据上的关键评估
Ruchir Rastogi,Ryan Chung,Sindy Li et al.
Ruchir Rastogi et al.
Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility and guide future improvements. The Critica...
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula [0.03%]
欧洲罗姆人移民的遗传足迹：从巴尔干到伊比利亚半岛的证据
Giacomo Francesco Ena,Aaron Giménez,Annabel Carballo-Mesa et al.
Giacomo Francesco Ena et al.
The Roma people have a complex demographic history shaped by their recent dispersal from a South Asian origin into Europe, accompanied by continuous population bottlenecks and gene flow. After settling in the Balkans around 1,000 years ago,...