A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website [0.03%]
一项定性研究：探索消费者在第三方网站上自主获取多基因风险评分的体验
Kiara Lowes,Kennedy Borle,Lasse Folkersen et al.
Kiara Lowes et al.
The number of people accessing their own polygenic risk scores (PRSs) online is rapidly increasing, yet little is known about why people are doing this, how they react to the information, and what they do with it. We conducted a qualitative...
Jillian Hastings Ward,Rebecca Middleton,David McCormick et al.
Jillian Hastings Ward et al.
Assessing the digenic model in rare disorders using population sequencing data [0.03%]
利用人群测序数据评估罕见疾病中的双基因模型
Nerea Moreno-Ruiz;Genomics England Research Consortium;Oscar Lao,Juan Ignacio Aróstegui,Hafid Laayouni et al.
Nerea Moreno-Ruiz;Genomics England Research Consortium;Oscar Lao et al.
An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling. The analysis of geno...
Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank [0.03%]
基于人口的生物银行参与者基因组结果的个体反馈过程中总结的经验教训
Liis Leitsalu,Anu Reigo,Marili Palover et al.
Liis Leitsalu et al.
The return of individual genomic results (ROR) to research participants is still in its early phase, and insight on how individuals respond to ROR is scarce. Studies contributing to the evidence base for best practices are crucial before th...
Yann Joly,Gratien Dalpe
Yann Joly
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry [0.03%]
基于大规模全国性心血管遗传注册表鉴定和计算表征剪接位点变异
Kaveh Rayani,Brianna Davies,Matthew Cheung et al.
Kaveh Rayani et al.
Splice-site variants in cardiac genes may predispose carriers to potentially lethal arrhythmias. To investigate, we screened 1315 probands and first-degree relatives enrolled in the Canadian Hearts in Rhythm Organization (HiRO) registry. 10...
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders [0.03%]
基因组测序作为神经发育障碍一线检测的效果评估
Bart P G H van der Sanden,Gaby Schobers,Jordi Corominas Galbany et al.
Bart P G H van der Sanden et al.
Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessin...
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study [0.03%]
德国慢性肾脏疾病研究中遗传性小管间质性肾病的患病率
Bernt Popp,Arif B Ekici,Karl X Knaup et al.
Bernt Popp et al.
Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical perception. Exome sequencing (ES) studies in CKD cohorts could identify pathogenic variants in ~10% of individuals. Tubulointerstitial kidney diseases, sh...
Societal implications of expanded universal carrier screening: a scoping review [0.03%]
扩展的全民携带者筛查的社会影响：一项范畴审查
Lieke M van den Heuvel,Nina van den Berg,A Cecile J W Janssens et al.
Lieke M van den Heuvel et al.
Carrier screening aims to identify couples at risk of conceiving children with a recessive condition. Until recently, carrier screening was primarily offered ancestry-based. Technological advances now facilitate expanded universal carrier s...
Correction: Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project [0.03%]
纠正：荷兰DNA对话项目导致的人类生殖系基因编辑意见变化结果解读发生变化
Diewertje Houtman,Boy Vijlbrief,Marike Polak et al.
Diewertje Houtman et al.