Addressing genetic discrimination for stronger legal protections and enhanced public awareness [0.03%]
应对遗传歧视 加强法律保护 增进公众意识
Shizuko Takahashi,Tianxiang Lan,Hui Jin Toh et al.
Shizuko Takahashi et al.
Singapore has advanced in precision medicine, which is largely based on genetic testing and sequencing, yet its safeguard against genetic discrimination (GD) is limited to a non-binding insurance moratorium, with no protections in employmen...
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families [0.03%]
基因组测序在罕见病的临床应用价值——来自韩国一家医疗中心1452个家庭的研究经验
Seungbok Lee,Go Hun Seo,Soo Yeon Kim et al.
Seungbok Lee et al.
Genome sequencing (GS) was applied to 3317 individuals from 1452 Korean families with suspected rare genetic disorders to assess diagnostic yield and clinical utility. Patients were categorized into 16 clinical subgroups with curated phenot...
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients [0.03%]
EYS相关性视网膜营养不良的临床特征(291例日本患者)
Yoshito Koyanagi,Yusuke Murakami,Taro Kominami et al.
Yoshito Koyanagi et al.
Eyes shut homolog (EYS) is the most common autosomal recessive causative gene of inherited retinal dystrophy (IRD) in the Japanese population, yet genotype-phenotype correlation data remain limited. We analyzed 291 probands (141 males, 150 ...
Nasna Nassir,Mohammad Amiruddin Hashmi,Kavya Gopan Raji et al.
Nasna Nassir et al.
Precision medicine aims to tailor healthcare by integrating individual genetic, epigenetic, transcriptomic, proteomic, and clinical data, collectively referred to as multi-omic data. However, the scale and complexity of such multi-omics dat...
Survey of U.S. reproductive medicine clinicians' attitudes on polygenic embryo screening [0.03%]
美国生殖医学临床医生多基因胚胎筛查态度调查
Rémy A Furrer,Dorit Barlevy,Aayushi Gandhi et al.
Rémy A Furrer et al.
Polygenic embryo screening (PES) is used to screen embryos for their genetic likelihood of developing complex conditions and traits. We surveyed 152 U.S. reproductive endocrinology and infertility specialists (REIs) on their views of PES. W...
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature [0.03%]
自闭症谱系障碍和智力障碍中的UBR5功能丧失型变异：病例系列及文献综述
Miriam S Reuter,Nelson Bautista Salazar,Jennifer L Howe et al.
Miriam S Reuter et al.
UBR5 encodes an E3 ubiquitin-protein ligase which targets distinct N-terminal residues of proteins for degradation. Heterozygous loss-of-function variants were reported in patients with Autism Spectrum Disorder (ASD) and developmental delay...
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms [0.03%]
关于进行干细胞模型的遗传性白质营养不良的研究现状：对病理生理机制理解的新进展
Alexandra Chapleau,Stefanie Perrier,Thomas M Durcan et al.
Alexandra Chapleau et al.
Leukodystrophies are a diverse group of genetic disorders affecting the central nervous system white matter. Since their initial identification over a century ago, significant advancements have been made in understanding their genetic and c...
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement [0.03%]
CD137缺陷的体细胞恢复与EB病毒感染控制及临床改善相关
Laura Batlle-Masó,Joan Padrosa Pulido,Anna Esteve-Codina et al.
Laura Batlle-Masó et al.
Epstein-Barr virus (EBV) is an oncogenic virus ubiquitous in human populations. CD8 T cells play a crucial role in establishing a strong anti-EBV immune response. Among the various inborn errors of immunity (IEI) showing a restricted vulner...
Improving polygenic risk score based drug response prediction using transfer learning [0.03%]
使用迁移学习改进多基因风险评分以基于其预测药物反应改善聚类性能
Youshu Cheng,Song Zhai,Wujuan Zhong et al.
Youshu Cheng et al.
Traditional methods for pharmacogenomics (PGx), like those using disease-specific polygenic risk scores (PRS-Dis), often fail to capture the full heritability of drug response, leading to poor predictions. Direct PGx PRS approaches could im...
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study [0.03%]
DCTN1基因在神经退行性疾病中的遗传和临床特征分析：一项大规模病例对照系列研究
Xiaorong Hou,Xuxiong Tang,Yuwen Zhao et al.
Xiaorong Hou et al.
Impairment of axonal transport has been emphasized as a common feature in a series of neurodegenerative diseases (NDs). Variations in DCTN1 have been reported in NDs such as Parkinson's disease (PD), Perry syndrome (PS) and Amyotrophic late...