Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity? [0.03%]
未知意义变异(VUS)应在心血管遗传学中向患者披露吗？仅在怀疑致病性较高时披露吗？
Saskia N van der Crabben,Stellan Mörner,Anna C Lundström et al.
Saskia N van der Crabben et al.
Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults [0.03%]
22q11.2微缺失成人患者的运动障碍及运动力异常的谱系：文献述评和对92例成年患者的回顾性研究
Erik Boot,Connie Marras,Anne S Bassett
Erik Boot
Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review [0.03%]
父母对基因组和外显子组测序在儿科健康状况中的理解的系统评价
Jessica Gereis,Kate Hetherington,Lauren Ha et al.
Jessica Gereis et al.
Genome and exome sequencing (GS/ES) are increasingly being used in pediatric contexts. We summarize evidence regarding the actual and perceived understanding of GS/ES of parents of a child offered testing for diagnosis and/or management of ...
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice [0.03%]
关于胚胎植入前基因检测中使用多基因风险评分的更正：一种未经证实且不道德的做法
Francesca Forzano,Olga Antonova,Angus Clarke et al.
Francesca Forzano et al.
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder [0.03%]
CDKL5缺陷症主要运动里程碑达成的影响因素分析
Kingsley Wong,Mohammed Junaid,Scott Demarest et al.
Kingsley Wong et al.
This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the ...
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis [0.03%]
孟德尔遗传病的外显子组和全基因组测序的诊断及卫生经济学分析
Lisa J Ewans,Andre E Minoche,Deborah Schofield et al.
Lisa J Ewans et al.
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS...
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients [0.03%]
KBG综合征：25例新患者的视频会诊及人工智能驱动的面部表型分析
Lily Guo,Jiyeon Park,Edward Yi et al.
Lily Guo et al.
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals...
Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study [0.03%]
识别出一类在脂肪组织表达后影响体脂量和分布的新基因：RNA测序与孟德尔随机化研究
Stefan Konigorski,Jürgen Janke,Giannino Patone et al.
Stefan Konigorski et al.
Many studies have shown that abdominal adiposity is more strongly related to health risks than peripheral adiposity. However, the underlying pathways are still poorly understood. In this cross-sectional study using data from RNA-sequencing ...
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery [0.03%]
重症监护下的快速基因组测序的遗传学后续行动：目前的做法及服务建议
Fiona Lynch,Amy Nisselle,Zornitza Stark et al.
Fiona Lynch et al.
The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressure and stress for parents. Contact with families after result disclosure, particularly after hospital discharge...
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing [0.03%]
基因组测序意外诊断肌张力障碍2型重复序列扩增
Haloom Rafehi,Cherie Green,Kiymet Bozaoglu et al.
Haloom Rafehi et al.
Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by molecular tools. Methodological advances have made repeat expansion (RE) detection with w...