Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry [0.03%]
遗传性代谢病的诊断延迟：来自U-IMD注册表的见解
Julian Teinert,Florian Gleich,Viktor Kozich et al.
Julian Teinert et al.
Purpose: Early diagnosis and timely initiation of treatment have been shown to be crucial to improve clinical outcomes in individuals with inherited metabolic diseases (IMDs). However, comprehensive data on the diagnostic...
Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada [0.03%]
被迫的韧性：加拿大不列颠哥伦比亚省内生群体关于制度障碍及人性化基因组医学的观点
Morgan Ehman,Laurie Montour,Samantha Pollard et al.
Morgan Ehman et al.
Purpose: Genome sequencing (GS) expedites rare disease diagnosis, yet its benefits remain inequitably distributed. Systemic healthcare barriers compound genomic underrepresentation to prolong Indigenous children's diagnos...
The PREDICT Study: Medically actionable outcomes and healthcare utilization of predictive genome sequencing results in a generally healthy adult population [0.03%]
预测基因组测序结果对一般健康成人人群的医疗可操作性结局和卫生保健利用：PREDICT研究
Jessa S Bidwell,Jennifer L Anderson,Lindsay A Mulvihill et al.
Jessa S Bidwell et al.
Purpose: Predictive genomic screening (GSCR) assesses health risks to implement proactive medical or lifestyle changes in the general population. We present data from a large-scale GSCR study regarding the genomic outcome...
Disparities in Genetic Testing: Evaluation of Reproductive Carrier Screening in the United States [0.03%]
美国产前携带者筛查的遗传差异性评估
Sheetal Parmar,Jessica L Saben,Madeleine Armer-Cabral et al.
Sheetal Parmar et al.
Purpose: To evaluate sociodemographic differences in U.S. individuals screened with expanded versus small reproductive carrier panels at a single commercial laboratory. ...
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement [0.03%]
DIAPH1功能减退引起进行性神经发育障碍并伴有可变免疫系统受累症状
Valentina Galassi Deforie,Reza Maroofian,Irem Karagoz et al.
Valentina Galassi Deforie et al.
Purpose: Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimm...
Specification of frequency criteria for secondary findings genes to improve variant classification concordance [0.03%]
规范次要发现基因的频率标准以提高变异分类一致性
Jennifer J Johnston,Kristy Lee,Deborah I Ritter et al.
Jennifer J Johnston et al.
Purpose: The return of secondary findings is well-established in clinical testing and is increasingly employed in clinical research testing. Variant classification can be challenging due to the lack of monogenic disease e...
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription [0.03%]
SUPT4H1双等位基因变异导致与转录受干扰相关的多系统神经发育障碍
Christina Canavati,Mari Oppebøen,Radha Verma et al.
Christina Canavati et al.
Purpose: We aimed to define the clinical and genetic basis of an autosomal recessive neurodevelopmental disorder identified in three unrelated families with an overlapping multisystem phenotype. ...
Jiaqi Hu,Geyu Zhou,Hongyu Zhao et al.
Jiaqi Hu et al.
Purpose: Polygenic scores (PGSs) have shown promise in predicting disease risk, but their predictive accuracy remains limited for many complex diseases. Leveraging the shared genetic architecture among correlated traits m...
Diagnostic Yield of Exome Reanalysis Over Time: Contribution of Reevaluation Type, Timing, and Patient Phenotype [0.03%]
外显子组重复分析的诊断效率会随着时间发生变化：不同类型、时间及患者表型的贡献率
Yi-Lee Ting,Trevor J Williams,Hillery Metz et al.
Yi-Lee Ting et al.
Purpose: Exome reanalysis increases diagnostic yield, yet the optimal cadence remains unclear. We evaluated factors influencing molecular diagnosis (MolDx) during routine six month reanalyses. ...
Germline genetic testing and privacy concerns in patients with mesothelioma [0.03%]
间皮瘤患者的胚系基因检测及隐私问题
Owen D Mitchell,Abigail P Sneider,Katie Gilliam et al.
Owen D Mitchell et al.
Purpose: Mesothelioma, a disease overwhelmingly driven by asbestos exposure, is also associated with germline genetic changes that interact with asbestos to cause cancer. Very little about barriers to genetic counseling a...