NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis [0.03%]
基于NGS的侵袭性肺曲霉病儿童血浆和肺灌洗液中曲霉菌检测
Emmy Wesdorp,Laura Rotte,Li-Ting Chen et al.
Emmy Wesdorp et al.
In immunocompromised pediatric patients, diagnosing invasive pulmonary aspergillosis (IPA) poses a significant challenge. Next-Generation Sequencing (NGS) shows promise for detecting fungal DNA but lacks standardization. This study aims to ...
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation [0.03%]
通过IGV解释揭开以前难以捉摸的Rett综合症病例中的MECP2结构变异
Tomer Poleg,Noam Hadar,Gali Heimer et al.
Tomer Poleg et al.
Rett syndrome (RTT) is a severe neurodevelopmental disorder, with MECP2 mutations accounting for 90-95% of classic and 50-70% of atypical cases. However, many clinically diagnosed RTT patients remain without molecular diagnoses. While point...
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome [0.03%]
癌症中的PD-1转录组全景及其对免疫检查点阻断结果的影响
Hui-Zi Chen,Na Hyun Kim,Daisuke Nishizaki et al.
Hui-Zi Chen et al.
Programmed cell death protein 1 (PD-1) is a critical immune checkpoint receptor and a target for cancer immune checkpoint inhibitors (ICI). We investigated PD-1 transcript expression across cancer types and its correlations to clinical outc...
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis [0.03%]
靶向长读长测序通过准确的PKD1基因分析实现ADPKD更高的诊断产量
Qian Sun,Peiwen Xu,Aiping Mao et al.
Qian Sun et al.
Genetic diagnosis of ADPKD has been challenging due to the variant heterogeneity, presence of duplicated segments, and high GC content of exon 1 in PKD1. In our reproductive center, 40 patients were still genetically undiagnosed or diagnose...
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort [0.03%]
伊朗近亲婚配队列中遗传性视网膜疾病的基因架构解析
Lieselot Vincke,Kristof Van Schil,Hamid Ahmadieh et al.
Lieselot Vincke et al.
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from a consanguineous backgr...
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics [0.03%]
发现加勒比地区西班牙裔人群与氯吡格雷反应相关的祖先特异性变体
Guang Yang,Pablo González,Mariangeli Moneró et al.
Guang Yang et al.
High on-treatment platelet reactivity (HTPR) with clopidogrel predicts ischemic events in adults with coronary artery disease, and while HTPR varies by ethnicity, no genome-wide association study (GWAS) of clopidogrel response has been cond...
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model [0.03%]
了解杜氏肌营养不良症模型对自闭症的罕见变异贡献
Claudia Ismania Samogy Costa,Luciana Madanelo,Jaqueline Yu Ting Wang et al.
Claudia Ismania Samogy Costa et al.
Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000-6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism (ASD; ~20%...
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort [0.03%]
罕见疾病队列中深度学习模型与临床级变异致病性分类的不一致问题
Sek Won Kong,In-Hee Lee,Lauren V Collen et al.
Sek Won Kong et al.
Genetic testing is essential for diagnosing and managing clinical conditions, particularly rare Mendelian diseases. Although efforts to identify rare phenotype-associated variants have focused on protein-truncating variants, interpreting mi...
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease [0.03%]
国际精准儿童健康合作伙伴关系（IPCHiP）：加快发现并改善罕见儿科疾病结果的举措
Katherine B Howell,Susan M White,Amy McTague et al.
Katherine B Howell et al.
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine transl...
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height [0.03%]
最大多样祖先性别特异性疾病的遗传预测身高图谱带来的启示
A Papadopoulou,E M Litkowski,M Graff et al.
A Papadopoulou et al.
We performed ancestry and sex specific Phenome Wide Association Studies (PheWAS) to explore disease related outcomes associated with genetically predicted height. This is the largest PheWAS on genetically predicted height involving up to 84...