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...
Correspondence on "ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Lee et al [0.03%]
关于“临床外显子组和基因组测序的二级结果报告的ACMG SF v3.3列表：美国医学遗传学院(AMCG)的一项政策声明”（李等）的来信
Natalie T Deuitch,Paul P Liu,David J Young et al.
Natalie T Deuitch et al.
Correspondence on "Sequencing and health data resource of children of African ancestry" [0.03%]
关于“非洲血统儿童的测序和健康数据资源”的来信
Michael Allison,Terresa Adams,Jennifer Foster et al.
Michael Allison et al.
Leah C Kottyan,Scott Richards,Morgan E Tracy et al.
Leah C Kottyan et al.
Purpose: Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this g...
Kristy Lee,Christa Lese Martin,David T Miller
Kristy Lee
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death [0.03%]
人类不可耐基序数据库：一个用于在死产、妊娠丢失和新生儿死亡中优先处理基因组变异的数据库
Svetlana A Yatsenko,Amrita Nagasuri,Vishal Soman et al.
Svetlana A Yatsenko et al.
Purpose: The application of next-generation sequencing in prenatal and neonatal genomic medicine provides definite diagnosis, impacts clinical decision-making and reproductive planning. Despite recent advances, interpreta...
Estimation of the number of people with Down syndrome in Latin America and the Caribbean [0.03%]
拉丁美洲和加勒比地区唐氏综合症患者数量估计
Gert de Graaf,Frank Buckley,Brian G Skotko
Gert de Graaf
Purpose: We estimate the live births and overall population with Down syndrome (DS) in Latin America and the Caribbean from 1950 to 2020. This study adds to previous work from the United States, Europe, Australia, New Zea...
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing [0.03%]
基因组时代威尔森-荣格纳原则的操作化：国际新生儿测序联盟的共识建议
Lilian Downie,Julie Yeo,Thomas Minten et al.
Lilian Downie et al.
Purpose: For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions include...