Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies [0.03%]
面向消费者的基因检测和个人基因组服务：近期实证研究综述
J Scott Roberts,Jenny Ostergren
J Scott Roberts
Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, h...
Pharmacogenomic Discovery Delineating the Genetic Basis of Drug Response [0.03%]
药理基因组学发现：阐明药物反应的遗传基础
Wei Zhang,Yinan Zheng,Lifang Hou
Wei Zhang
Personalized medicine has the promise to tailor medical care based on the patient's genetic make-up and clinical variables such as gender, race and exposure to environmental stimuli. Recent progress in pharmacogenetic and pharmacogenomic st...
Benjamin B Currall,C Chiang,Michael E Talkowski et al.
Benjamin B Currall et al.
It has been known for several decades that genetic variation involving changes to chromosomal structure (i.e., structural variants) can contribute to disease; however this relationship has been brought into acute focus in recent years large...
Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women's Healthcare Practitioners [0.03%]
无创产前检测：用于女性医疗从业人员的技术、临床试验和实施策略
Amy Swanson,Amy J Sehnert,Sucheta Bhatt
Amy Swanson
The field of prenatal genetic testing has exploded with new non-invasive technologies and test options in the past several years. It is challenging for women's healthcare providers to keep up with the multitude of publications and provide p...
Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention [0.03%]
遗传代谢病的神经精神症状：基因组和代谢组分析在治疗和预防中的应用
Lisa Pan,Jerry Vockley
Lisa Pan
Inborn errors of metabolism may present as a spectrum ranging from neonatal lethality to non-specific symptoms. Neuropsychiatric manifestations have been identified in three groups: those presenting as emergencies, those with chronic fluctu...
A prognostic view on the application of individualized genomics in Parkinson's disease [0.03%]
基因组学在帕金森病个性化治疗中应用的预测性展望
Owen A Ross
Owen A Ross
Parkinson's disease is a common age-related progressive neurodegenerative disorder. Over the last 15 years advances have been made in our understanding of the etiology of the disease, with the greatest insights perhaps coming from genetic s...
Alternative Approaches in Gene Discovery and Characterization in Alzheimer's Disease [0.03%]
阿尔茨海默病基因鉴定与解析的替代方法
Nilüfer Ertekin-Taner,Phillip L De Jager,Lei Yu et al.
Nilüfer Ertekin-Taner et al.
Uncovering the genetic risk and protective factors for complex diseases is of fundamental importance for advancing therapeutic and biomarker discoveries. This endeavor is particularly challenging for neuropsychiatric diseases where diagnose...