A narrative review of research advancements in pharmacogenetics of cardiovascular disease and impact on clinical implications [0.03%]
心血管疾病药物基因组学研究进展及临床影响的叙述性回顾
Ayat Shorbaji,Peter Natesan Pushparaj,Ayat B Al-Ghafari et al.
Ayat Shorbaji et al.
Pharmacogenetics can enhance cardiovascular disease (CVD) treatment by tailoring drug therapy to genetic profiles and minimising trial-and-error approaches. Genetic variability influences responses to common CVD drugs, including antiplatele...
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger [0.03%]
建议对35岁以下HER2阳性乳腺癌患者进行临床TP53基因检测
Jing Li,Lili Chen,Xuhui Chen et al.
Jing Li et al.
Limited information is available for TP53 pathogenic variants (PVs) in early-onset breast cancer patients in China. We investigated the prevalence and clinical relevance of TP53 PVs among 1492 BRCA1/2-negative early-onset breast cancer pati...
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines [0.03%]
通过在下一代测序流程中整合剪接工具对遗传性视网膜营养不良进行新的基因诊断
Elena Fernández-Suárez,María González-Del Pozo,Cristina Méndez-Vidal et al.
Elena Fernández-Suárez et al.
Variants affecting pre-mRNA splicing mechanisms are responsible for multiple monogenic disorders. However, their prioritization and interpretation remain challenging. Herein, we designed a strategy for the identification of likely spliceoge...
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing [0.03%]
儿科人群血液转录组分析的诊断价值评估（该群体此前已通过基因组测序进行过评估）
Huayun Hou,Kyoko E Yuki,Gregory Costain et al.
Huayun Hou et al.
Despite advances in genome sequencing, many individuals with rare genetic disorders remain undiagnosed. Transcriptional profiling via RNA-seq can reveal functional impacts of DNA variants and improve diagnosis. We assessed blood-derived RNA...
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system [0.03%]
针对大型医疗体系人群筛查的全基因组测序计划（Geno4ME）及其实施过程研究
Isabelle A Lucas Beckett,Kate R Emery,Josiah T Wagner et al.
Isabelle A Lucas Beckett et al.
The Genomic Medicine for Everyone (Geno4ME) study was established across the seven-state Providence Health system to enable genomics research and genome-guided care across patients' lifetimes. We included multi-lingual outreach to underrepr...
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity [0.03%]
唾液作为潜在的诊断媒介：口腔外疾病的DNA甲基化生物标志物
Alba Hernangomez-Laderas,Ariadna Cilleros-Portet,Sergi Marí et al.
Alba Hernangomez-Laderas et al.
Saliva is an accessible biofluid with potential for non-invasive disease diagnostics. This study explores how genetic susceptibility to common diseases is reflected in DNA methylation (DNAm) and gene expression profiles in saliva. We constr...
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration [0.03%]
可解释机器学习与转录组数据的整合揭示年龄相关黄斑变性背后细胞特异性免疫特征
Khang Ma,Hosei Nakajima,Nipa Basak et al.
Khang Ma et al.
Genome-wide association studies (GWAS) have established key role of immune dysfunction in Age-related Macular Degeneration (AMD), though the precise role of immune cells remains unclear. Here, we develop an explainable machine-learning pipe...
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission [0.03%]
基于新生儿重症监护病房收住的前48小时内的MPSS评分筛选接受全基因组测序的新生儿
Bennet Peterson,Edwin F Juarez,Barry Moore et al.
Bennet Peterson et al.
Identifying critically ill newborns who will benefit from whole genome sequencing (WGS) is difficult and time-consuming due to complex eligibility criteria and evolving clinical features. The Mendelian Phenotype Search Engine (MPSE) automat...
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders [0.03%]
TERT基因c.3150G>C(p.K1050N)变异与端粒生物学障碍相关的奠基性亚什肯纳兹犹太人变异型
Kelvin César de Andrade,Emilia M Pinto,Tianna Zhao et al.
Kelvin César de Andrade et al.
Pathogenic germline variants in telomerase (TERT) cause telomere biology disorders (TBDs) and are associated with bone marrow failure, pulmonary fibrosis, and other complications. TERT c.3150 G > C (p.K1050N) is frequent in the Ashkenazi Je...
Laurenz De Cock,Erika D&#x;haenens,Lies Vantomme et al.
Laurenz De Cock et al.
RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) with and ...