African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels [0.03%]
GATM基因的非洲血统特异变异与血清肌酐水平升高相关性研究
Shivam Sharma,Courtney A Astore,Leonardo Mariño-Ramírez et al.
Shivam Sharma et al.
Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations [0.03%]
人类人群中广泛分布的Alu/Alu介导的基因组重组易患一系列孟德尔病和癌症
Ruizhi Vince Duan,Haowei Du,Shruti Pande et al.
Ruizhi Vince Duan et al.
Background: Genome-wide distributions of Alu elements contribute to a broad range of structural variants (SVs) through Alu/Alu-mediated genomic rearrangement (AAMR). Yet, the prevalence and characteristics of AAMR on the ...
Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment [0.03%]
非小细胞肺癌体细胞拷贝数改变的特征及一线治疗疗效的影响因素分析
Ilaria Priano,Ramon Amat,Caterina Carbonell et al.
Ilaria Priano et al.
Spatial multi-omics characterization of neuroblastoma reveals ferroptosis-associated metabolic features in high-risk tumors [0.03%]
空间多组学表征神经母细胞瘤揭示高危肿瘤中铁死亡相关的代谢特征
Cui Tu,Chin Wee Tan,James Monkman et al.
Cui Tu et al.
Background: Neuroblastoma is a tumor of the sympathetic nervous system and is the most common extracranial solid malignancy in children. It displays striking clinical heterogeneity, ranging from spontaneous regression to ...
Global survey of extraintestinal pathogenic Escherichia coli identifies stable serogroup-virulence-resistance linkages [0.03%]
全球肠外病原大肠杆菌抽样调查锁定菌株型-毒力-抗药性稳定联系
Mengjie Li,Xiao Liu,Ruiting Lan et al.
Mengjie Li et al.
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation [0.03%]
卡罗林斯卡基因组医学中心罕见病的基因组测序十年报告及临床分步实施策略
Anna Lindstrand,Kristina Lagerstedt-Robinson,Anders Jemt et al.
Anna Lindstrand et al.
Background: As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease...
Type 2 diabetes risk alleles in peptidyl-glycine alpha-amidating monooxygenase influence GLP-1 levels and response to GLP-1 receptor agonists [0.03%]
第2型糖尿病风险等位基因通过肽基甘氨酸α酰胺酶影响GLP-1水平和GLP-1受体激动剂的反应
Mahesh M Umapathysivam,Elisa Araldi,Benoit Hastoy et al.
Mahesh M Umapathysivam et al.
Background: Type 2 diabetes (T2D) is a leading cause of morbidity and mortality worldwide. Despite the availability of multiple glucose-lowering agents, only half of individuals with T2D achieve the recommended HbA1c targ...
An atlas of genetic effects on the monocyte methylome across European and African populations [0.03%]
欧洲人和非洲人群单核细胞甲基组的遗传效应图谱
Wanheng Zhang,Chuan Qiu,Xiao Zhang et al.
Wanheng Zhang et al.
Lessons from single cell omics: admixed American ancestry and sex confer cardiometabolic disease risk in Mexicans [0.03%]
单细胞组学的启示：在美国混血和性别增加墨西哥人的患心血管元疾病的风险
Asha Kar,Seung Hyuk T Lee,Marcus Alvarez et al.
Asha Kar et al.
Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status [0.03%]
致病的CGG扩增在眼咽远端肌病中具有染色体上相邻序列以及甲基化状态的独特特征
Nobuyuki Eura,Satoru Noguchi,Megumu Ogawa et al.
Nobuyuki Eura et al.
Background: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are often similar, such as ptosis, dysphagia, and distal musc...