F Albalwy,J H McDermott,W G Newman et al.
F Albalwy et al.
The successful implementation of pharmacogenetics (PGx) into clinical practice requires patient genomic data to be shared between stakeholders in multiple settings. This creates a number of barriers to widespread adoption of PGx, including ...
The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals [0.03%]
与尼安德特人遗传相关的具有临床意义的CYP2C8*3和CYP2C9*2单体型
Sigrid Haeggström,Magnus Ingelman-Sundberg,Svante Pääbo et al.
Sigrid Haeggström et al.
Genetic variation in genes encoding cytochrome P450 enzymes influences the metabolism of drugs and endogenous compounds. The locus containing the cytochrome genes CYP2C8 and CYP2C9 on chromosome 10 exhibits linkage disequilibrium between th...
A machine learning model using SNPs obtained from a genome-wide association study predicts the onset of vincristine-induced peripheral neuropathy [0.03%]
基于全基因组关联研究获得的SNP的机器学习模型可预测长春新碱诱导的外周神经病变的发生
Hiroki Yamada,Rio Ohmori,Naoto Okada et al.
Hiroki Yamada et al.
Vincristine treatment may cause peripheral neuropathy. In this study, we identified the genes associated with the development of peripheral neuropathy due to vincristine therapy using a genome-wide association study (GWAS) and constructed a...
miRNAs as potential diagnostic biomarkers and pharmacogenomic indicators in psychiatric disorders [0.03%]
精神疾病中microRNA的潜在诊断生物标志物和药物基因组指标作用
Evangelia Eirini Tsermpini,Christina I Kalogirou,George C Kyriakopoulos et al.
Evangelia Eirini Tsermpini et al.
The heterogeneity of psychiatric disorders and the lack of reliable biomarkers for prediction and treatments follow-up pose difficulties towards recognition and understanding of the molecular basis of psychiatric diseases. However, several ...
Pharmacogenomics of Clozapine-induced agranulocytosis: a systematic review and meta-analysis [0.03%]
氯氮平引起的粒细胞缺乏症的药物基因组学：系统评价和meta分析
Farhana Islam,Daniel Hain,David Lewis et al.
Farhana Islam et al.
Although clozapine is the most effective pharmacotherapy for treatment-resistant schizophrenia, it is under-utilized, and initiation is often delayed. One reason is the occurrence of a potentially fatal adverse reaction, clozapine-induced a...
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients [0.03%]
外显子组测序可检测癫痫患者的药物基因多态性变异
Simon Verdez,Quentin Thomas,Philippine Garret et al.
Simon Verdez et al.
Beyond the identification of causal genetic variants in the diagnosis of Mendelian disorders, exome sequencing can detect numerous variants with potential relevance for clinical care. Clinical interventions can thus be conducted to improve ...
KDR genetic predictor of toxicities induced by sorafenib and regorafenib [0.03%]
KDR基因预测索拉非尼和瑞戈非尼诱导的毒性
Julia C F Quintanilha,Susan Geyer,Amy S Etheridge et al.
Julia C F Quintanilha et al.
No biomarkers are available to predict toxicities induced by VEGFR TKIs. This study aimed to identify markers of toxicities induced by these drugs using a discovery-validation approach. The discovery set included 140 sorafenib-treated cance...
Ankita Narang,Paul Lacaze,Kathlyn J Ronaldson et al.
Ankita Narang et al.
One of the concerns limiting the use of clozapine in schizophrenia treatment is the risk of rare but potentially fatal myocarditis. Our previous genome-wide association study and human leucocyte antigen analyses identified putative loci ass...
Point of care CYP2C19 genotyping after percutaneous coronary intervention [0.03%]
冠脉介入治疗后床旁CYP2C19基因分型
Linnea M Baudhuin,Laura J Train,Shaun G Goodman et al.
Linnea M Baudhuin et al.
Loss-of-function CYP2C19 variants are associated with increased cumulative ischemic outcomes warranting CYP2C19 genotyping prior to clopidogrel administration. TAILOR-PCI was an international, multicenter (40 sites), prospective, randomized...
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States [0.03%]
美国危重病儿科患者进行前瞻性全基因组快速测序的现实世界经济评估与匹配的回顾性队列比较
Vakaramoko Diaby,Aram Babcock,Yushi Huang et al.
Vakaramoko Diaby et al.
There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of...