Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling [0.03%]
DNA-poli评估：一项随机对照试验的研究方案，评估数字平台在家庭级联基因检测和预测性遗传咨询中的应用效果
Marlies N van Lingen,Janine V Meulenkamp,Marten A Siemelink et al.
Marlies N van Lingen et al.
Purpose: The current uptake of predictive genetic counseling among at-risk relatives (ARRs) for cardiogenetic diseases is suboptimal, with 40% to 50% of ARRs undergoing testing within 1 to 3 years after disclosure. Digita...
Efficient variant phasing utilizing a replication cycle reaction system [0.03%]
利用复制周期反应体系进行高效的变异相位解析
Akihiko Mitsutake,Hiroyuki Ishiura,Takashi Matsukawa et al.
Akihiko Mitsutake et al.
Purpose: When 2 heterozygous variants are detected in autosomal recessive disease genes, determining whether they are in cis or in trans is essential. Subcloning polymerase chain reaction products or complementary DNA is ...
Pharmacogenomics in pediatric oncology: Australian adolescent or young adult and caregiver perspectives [0.03%]
儿科肿瘤学的药物基因组学：澳大利亚青少年、年轻成人和护理人员的观点
Claire Moore,Emma F Magavern,Marliese Alexander et al.
Claire Moore et al.
Purpose: Preemptive pharmacogenomic (PGx) testing in pediatric oncology patients could reduce toxicity and improve efficacy of medications yet remains underutilized. Consumer identified implementation barriers have not be...
How does personal utility depend on clinical setting? Evidence from 3 cohorts [0.03%]
来自3个队列的证据：个人效用如何取决于临床环境？
Elise Poole,Stephanie Luca,Daniel Assamad et al.
Elise Poole et al.
Purpose: Evidence of personal utility of genetic testing is critical to clinical care, funding, and policy decisions. We aimed to understand how patient-oriented values and preferences for genetic testing vary across clin...
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases [0.03%]
成段杂合度缺失在罕见病患者遗传病因识别中的临床应用价值
Theru A Sivakumaran,Bilal Azab,Emily Hershman et al.
Theru A Sivakumaran et al.
Purpose: To evaluate the clinical utility of runs of homozygosity (ROH) in identifying the genetic causes of rare diseases in our patient population. Meth...
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure [0.03%]
患者和提供者关于使用GUÍA数字工具增强基因组结果披露的观点
Jacqueline A Odgis,Sabrina A Suckiel,Laura Golfinopoulos et al.
Jacqueline A Odgis et al.
Purpose: Genomic testing is expanding, yet disparities persist in result disclosure, particularly among diverse and bilingual populations. The Genomic Understanding, Information, and Awareness (GUÍA) digital tool was dev...
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali [0.03%]
Trio外显子组分析是马里癫痫基因诊断的有效工具
Salia Bamba,Lauren Jeffries,Salimata Diarra et al.
Salia Bamba et al.
Purpose: Trio exome sequencing is widely used for various disorders. We investigated the utility of this method to identify genetic causes of epilepsy in Mali. ...
Assessing completeness of cancer family history in EHRs using genetically defined kinships: A cross-sectional study [0.03%]
基于遗传定义的家系评估电子健康记录中的癌症家族史完整性：横断面研究
Daniel Kiser,Gai Elhanan,Karen A Schlauch et al.
Daniel Kiser et al.
Purpose: Family history (FHx) is the most widely available tool for reducing mortality and morbidity caused by heritable diseases. However, FHx may be inadequately documented. Our objective was to assess the rate at which...
Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario [0.03%]
安大略省慢性肾脏疾病遗传检测建议标准化框架
Angela Du,Kaitlyn Lemay,Amit Bagga et al.
Angela Du et al.
Purpose: Genetic causes account for 10% to 20% of adult and 30% to 50% of pediatric chronic kidney disease (CKD). Patients with genetic CKD have a higher risk of progression to kidney failure. More than 500 genes are impl...
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom [0.03%]
英国 FamCS 少见变异的基因图谱
Bilal Bashir,Natalie Forrester,Paul Downie et al.
Bilal Bashir et al.
Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom. ...