Forensic utilization of NGS-STRs and evaluation of system efficacy for different kinship identifications [0.03%]
基于NGS-STR的法医学应用及不同亲缘关系认定效能评估研究
Hui Xu,Hongbing Yao,Xi Yuan et al.
Hui Xu et al.
Background: The accurate identification of complex kinship relationships remains a significant challenge in forensic practice. Traditional kinship identification methods, which primarily rely on length polymorphisms of sh...
Unraveling diethyl phthalate-induced prostate carcinogenesis: core targets revealed by integrated network toxicology, machine learning, and structural validation [0.03%]
邻苯二甲酸二乙酯诱导前列腺癌发生机制：综合网络毒理学、机器学习和结构确证发现核心靶标
Hao Liu,Junyi Jiang,Ying Tan et al.
Hao Liu et al.
Purpose: Diethyl phthalate (DEP), a widely distributed environmental contaminant, is epidemiologically linked to prostate cancer (PCa). However, its molecular mechanisms beyond endocrine disruption remain poorly defined. ...
Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation [0.03%]
TBL1XR1异体变体的两个儿童病例报告：通过分子对接和分子动力学模拟鉴定新的剪接位点变异并进行功能分析
Yaxue Xie,Ziyan Zhang,Gang Zhu et al.
Yaxue Xie et al.
Identification of potential predictive biomarkers during JAK-inhibitor therapies in rheumatoid arthritis [0.03%]
识别风湿性关节炎患者接受JAK抑制剂治疗过程中的潜在预测生物标志物
János Rózsa,Dóra Csige,Monika Bodoki et al.
János Rózsa et al.
Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai [0.03%]
基于婚前夫妇的群体研究使用长读测序技术对多种复杂单基因疾病的携带者筛查
Renyi Hua,Shuyuan Li,Di Cui et al.
Renyi Hua et al.
Background: Carrier screening for severe recessive genetic diseases in couples undergoing premarital examinations is a crucial strategy for reducing the incidence of birth defects and promoting reproductive health. Howeve...
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review [0.03%]
与人类和小鼠听觉及前庭表型相关的基因：跨物种系统评价
Cedra Ayoub,Saihamsini Paladugu,Nikita Nikitenko et al.
Cedra Ayoub et al.
Severe obesity as an oligogenic condition: evidence from 1714 adults seeking treatment in the UK National Health Service [0.03%]
英国国民卫生服务中1714名寻求治疗的严重肥胖成年人的寡基因特征证据
Sumaya Almansoori,Hasnat A Amin,Suzanne I Alsters et al.
Sumaya Almansoori et al.
Correction: A novel LACC1 variant c.658G > A (p.Asp220Asn) in familial juvenile arthritis: identification and functional analysis [0.03%]
对家族性幼年型关节炎中LACC1新变异c.658G>A（p.Asp220Asn）的鉴定与功能分析的更正通知
Hiba Alblooshi,Noor Mustafa,Azeem Abdul Khalam et al.
Hiba Alblooshi et al.
Published Erratum
Human genomics. 2025 Dec 18;19(1):147. DOI:10.1186/s40246-025-00887-7 2025
Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province [0.03%]
云南省汉族人群视网膜和脉络膜萎缩症的基因筛查及分析报告
Feng-Juan Gao,Cong Duan,Kai-Xin Chen et al.
Feng-Juan Gao et al.
Background: Gyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by OAT mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations. ...
Sleep patterns, genetic factors and the risk of cirrhosis: a prospective cohort study [0.03%]
睡眠模式、遗传因素与肝硬化风险的关系：一项前瞻性队列研究
Fei Lin,Haoyu Zhang,Hongwei Xu et al.
Fei Lin et al.
Background: Recent studies have shown that unhealthy sleep behaviors are associated with chronic liver disease. However, the association of sleep patterns and genetic susceptibility with the incidence of cirrhosis remains...