Transcriptome-wide association study of cardiovascular outcomes in chronic kidney disease: the Chronic Renal Insufficiency Cohort [0.03%]
慢性肾脏病心血管结局的转录组关联研究：慢性肾功能不全队列研究
Bridget M Lin,Jia Wen,Andrea R V R Horimoto et al.
Bridget M Lin et al.
Transcriptome-wide association studies (TWAS) are powerful for identifying gene-trait associations by integrating gene expression and genome-wide association data, but findings may be impacted by the choice of gene expression reference. We ...
Understanding Exceptional Response: The Role of MINDY1 SNP in CDK4/6 Inhibitor Therapy for ER-Positive, HER2-Negative Advanced Breast Cancer [0.03%]
理解特异反应：MINDY1基因多态性在雌激素受体阳性、HER2阴性晚期乳腺癌细胞周期素依赖激酶4/6抑制剂治疗中的作用
Eleni Balla,Yi Li,Zikun Zhou et al.
Eleni Balla et al.
Exceptional responders to targeted cancer therapies offer a unique opportunity to uncover molecular determinants of drug sensitivity. In this study, we aimed to identify genomic alterations associated with exceptional response to cyclin-dep...
Sean T Congdon,John Bennett,Rhoddean Opinya et al.
Sean T Congdon et al.
Single nucleotide variants (SNVs) and small insertions or deletions (indels) underlie most rare monogenic disorders, yet therapeutic strategies to precisely correct these mutations remain limited. Prime Editing enables repair of such pathog...
A systematic assessment of Large Language Models' knowledge of rare diseases:How much do Large Language Models know about rare disease? [0.03%]
对大型语言模型罕见病知识的系统评估：大型语言模型对罕见病了解多少？
Tudor Groza,Allison J Marcello,Tristan Carlisle et al.
Tudor Groza et al.
Large language models (LLMs) perform well on general medical benchmarks, but their ability to reason about rare diseases (RD) remains unclear. Rather than challenge LLMs to diagnose a limited number of cases that are unlikely to represent a...
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs [0.03%]
同义NOP58突变通过干扰核糖体前RNA成熟而导致神经发育障碍
Loisa D Bonde,Tess Holling,Malik Alawi et al.
Loisa D Bonde et al.
Ribosomes are ribonucleoproteins that are responsible for protein synthesis. They consist of ribosomal proteins and ribosomal RNAs (rRNAs). Pre-rRNAs are co-transcriptionally processed and chemically modified. The 2'-O-methylation of rRNAs ...
Brian R Ferolito,Hesam Dashti,Claudia Giambartolomei et al.
Brian R Ferolito et al.
Large biobanks, including the Million Veteran Program (MVP), the UK Biobank, and FinnGen, provide genetic association results for more than 1,000,000 individuals for hundreds of phenotypes. To select targets for pharmaceutical development, ...
Leah V Chifamba,Sitki Cem Parlar,Lang Liu et al.
Leah V Chifamba et al.
Oxidative stress has been implicated in Parkinson's disease (PD). Genes involved in PD, such as PRKN, PINK1 and PARK7, contribute to oxidative stress in dopaminergic neurons. The X-linked G6PD gene encodes glucose 6-phosphate dehydrogenase,...
Viewing Direct-to-Consumer Genetic Test Results for Depression Risk Is Psychologically Well Tolerated: Evidence from a Longitudinal Equivalence Study [0.03%]
纵向等价研究显示直接面向消费者的抑郁症基因检测结果具有良好的心理耐受性
Rebecca M K Berns,Devika Dhamija,Daniella Coker et al.
Rebecca M K Berns et al.
Depression is a frequent focus of interest in genetic testing. Despite growing availability of polygenic risk scores (PRS) for depression, little is known about the psychological impact of receiving them in real-world settings. To quantify ...
Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study [0.03%]
eMERGE研究中关于单基因、多基因和综合风险结果反馈给医疗专业人员的经验报告
Sabrina A Suckiel,Laura Golfinopoulos,Courtney L Scherr et al.
Sabrina A Suckiel et al.
Clinical interest in polygenic (PRS) and integrated (PRS plus clinical factors) risk scores (IRS) is growing, yet little data exists on how healthcare providers navigate returning these results to patients. The eMERGE IV study implemented a...
Epigenome-wide association study meta-analysis of BMI in African Americans [0.03%]
非洲裔美国人BMI的表观基因组关联元分析研究
Kendra Ferrier,Mariaelisa Graff,Iain R Konigsberg et al.
Kendra Ferrier et al.
Despite considerable advances in identifying risk factors for obesity, gaps remain in our understanding about its etiology. Genetic variants explain only a small portion of variation in obesity-related traits such as body mass index (BMI). ...