Kenza El Khair,Amale Bousfiha,Aymane Bouzidi et al.
Kenza El Khair et al.
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes [0.03%]
泰国新生儿糖尿病患者外显子组测序的靶向分析
Nattachet Plengvidhya,Thanida Tangjarusritaratorn,Nipaporn Teerawattanapong et al.
Nattachet Plengvidhya et al.
Neonatal diabetes mellitus (NDM) typically presents within the first 6 months of life and generally lacks islet autoantibodies. Genetic elucidation of NDM is a prime example of precision medicine in diabetes. However, no published genetic d...
Genetic ancestry proportion influences risk of adverse events from tuberculosis treatment in Brazil [0.03%]
基因祖先比例影响巴西结核病治疗不良事件的风险
Jacqueline A Piekos,Gustavo Amorim,Felipe Ridolfi et al.
Jacqueline A Piekos et al.
Tuberculosis (TB) treatment is highly effective, but response to therapy varies by geography and population subgroups. We assessed differences in TB treatment response in a representative and heterogeneous Brazilian population. We estimated...
Observational Study
Human genetics. 2026 Jan 6;145(1):10. DOI:10.1007/s00439-025-02809-y 2026
Distinct regulatory elements of SLC6A14 expression contribute to modification of cystic fibrosis phenotypes [0.03%]
SLC6A14表达的不同调控元件对囊性纤维化表型的修饰作用独特
Mohsen Esmaeili,Cheng Wang,Fan Lin et al.
Mohsen Esmaeili et al.
The SLC6A14 gene on chromosome X modifies disease presentation in individuals with cystic fibrosis (CF). Population studies have revealed distinct proximal and distal SNP clusters associated with gastrointestinal and lung phenotypes, respec...
Genome-wide association study identifies novel and confirms established loci associated with serum lipids levels in Brazilians [0.03%]
全基因组关联研究确定巴西人血清脂质水平的新相关位点，并证实已知相关位点
Larissa Siqueira Penna,Raphael Bruno Amemiya,Isabela Archanjo Nunez et al.
Larissa Siqueira Penna et al.
Dyslipidemia is an important risk factor for cardiovascular diseases and can result from genetic and environmental influences. Most genome-wide association studies (GWAS) have been conducted in European populations, limiting our understandi...
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort [0.03%]
单分子实时测序在α-珠蛋白基因簇结构变异中的应用：在中国大样本量人群中罕见和新型变异体的鉴定及其多样性分析
Dan Wei,Zifeng Cheng,Wei Wei et al.
Dan Wei et al.
α-thalassemia is an inherited monogenic disorder that exhibits a notably high prevalence in the Guangxi region of China. Subjects in this study were recruited from the Second Affiliated Hospital of Guangxi Medical University between Octobe...
Partially connected neural networks for complex trait prediction: application to human height [0.03%]
复杂性状预测的部分连接神经网络：身高数据应用
Haoyi Weng,Li Jiang,Zhifeng Zheng et al.
Haoyi Weng et al.
Identification of DNA methylation based prognostic subtype and signature in epithelial ovarian cancer [0.03%]
基于DNA甲基化的预后亚型和标志物在卵巢癌中的鉴定
Jingjing Zhou,Yuxin Chen,Wei Liu et al.
Jingjing Zhou et al.
DNA methylation plays a crucial role in the development and progression of cancer and has been utilized for subtyping various tumors. This study focused on classifying epithelial ovarian cancer (EOC) based on DNA methylation and characteriz...
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA [0.03%]
安纳托利亚地区自身炎症性疾病单核苷酸多态性位点的年龄估算：来自古代和现代DNA的启示
Damla Karadavut,Gulsah Merve Kilinc,Idil Yet
Damla Karadavut
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach [0.03%]
LSS变异导致的一种新的常染色体隐性简单性少毛症：多组学研究揭示的新机制
Xiaxia Liu,Kai Liu,Yuda Wei et al.
Xiaxia Liu et al.