Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes [0.03%]
儿童阅读障碍的外显子组测序提示CLDN3和离子通道基因罕见变异的作用
Krzysztof Marianski,Joel B Talcott,John Stein et al.
Krzysztof Marianski et al.
Dyslexia is a specific difficulty in learning to read that affects 5-10% of school-aged children and is strongly influenced by genetic factors. While previous studies have identified common genetic variants associated with dyslexia, the rol...
Exploratory analysis of HLA SNPs associated with occult HBV infection: a multicenter case-control study in Chinese blood donors [0.03%]
一项关于输血者隐匿性乙型肝炎病毒感染的HLA SNP相关性的多中心病例对照研究
Lin Zhou,Ying Yan,Huimin Ji et al.
Lin Zhou et al.
Occult hepatitis B virus infection (OBI), characterized by detectable HBV DNA but undetectable HBsAg, poses diagnostic and clinical challenges, with host genetic factors, particularly HLA-mediated immune regulation, remaining poorly underst...
Multicenter Study
Human genetics. 2025 Dec 24;145(1):1. DOI:10.1007/s00439-025-02805-2 2025
MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics [0.03%]
MutAnt：一个预测错义突变有害性的注释工具，并可改进来自转录组的变异检测
Aleksandr Sarachakov,Anastasiya Yudina,Viktor Svekolkin et al.
Aleksandr Sarachakov et al.
Many pathogenic variants implicated in Mendelian diseases impair normal protein function, often through loss-of-function effects, while loss-of-function mutations in tumor suppressor genes commonly contribute to tumorigenesis. However, many...
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory [0.03%]
细胞遗传学实验室外周血人工智能辅助核型分析的临床验证
Yujie Zhu,Matthew Hoi Kin Chau,Huilin Wang et al.
Yujie Zhu et al.
G-banded chromosome analysis, also known as G-banded karyotyping, remains a fundamental and irreplaceable diagnostic modality in clinical genetic testing. G-banded karyotypes provide whole genome visualization through chromosome banding pat...
Deficiency of SCAMP5 causes Parkinson's disease due to loss of dopamine neurons [0.03%]
SCAMP5缺乏通过多巴胺神经元的丢失导致帕金森病
Huihui Liu,Shunnan Ge,Zhenxing Liu et al.
Huihui Liu et al.
Parkinson's disease is a progressive neurodegenerative disorder characterized by symptoms such as bradykinesia, resting tremors, and muscle rigidity. Although several disease-causing genes of juvenile Parkinson's disease have been reported,...
Hanaa El-Karaksy,Engy A Mogahed,Sherif Baroudy et al.
Hanaa El-Karaksy et al.
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia [0.03%]
4p16.1染色体上涉及影响神经嵴发育的顺式调控元件的非复发重复序列导致患者孤立性双侧小耳畸形
Xiaolu Meng,Jiawei Du,Zhe Liu et al.
Xiaolu Meng et al.
Microtia-anotia is a common congenital anomaly. In most cases, the genetic etiology remains unknown. The proper development of outer ear is closely related to cranial neural crest cells. Abnormal DNA recombination perturbing the function of...
Development and validation of an MPS-based 513-Plex SNP identity panel for degraded forensic samples [0.03%]
用于降解检材的基于MPS的513plexSNP身份鉴定体系的研发及验证
Linyu Shi,Xiaoxiao Feng,Mengyang Zhao et al.
Linyu Shi et al.
Degraded samples pose a challenge in routine forensic practice. The commonly used short tandem repeat markers are not optimally suitable for the analysis of degraded samples because of their structural complexity and locus length. By contra...
Polygenic risk scores in healthcare contexts: what's the scope? An interview study of European healthcare providers and researchers' perspectives on ethical challenges [0.03%]
多基因风险评分在医疗保健中的应用范围：欧洲医疗保健提供者和研究人员关于伦理挑战的观点访谈研究
Lara Andreoli,Hilde Peeters,Kristel Van Steen et al.
Lara Andreoli et al.
In the last decade, substantial research efforts have started worldwide to foster the clinical translation of Polygenic Risk Scores (PRS). Understanding the views of key relevant groups becomes timely to critically inform the socio-ethical ...
Retraction Note: Alterations of ATM and CADM1 in chromosomal 11q22.3-23.2 region are associated with the development of invasive cervical carcinoma [0.03%]
撤回 notice:染色体11 q22.3-23.2区域ATM和CADM1的改变与侵袭性宫颈癌的发生有关
Dipanjana Mazumder Indra,Sraboni Mitra,Anup Roy et al.
Dipanjana Mazumder Indra et al.