Current status of genetic testing and mosaic variant assessment in somatic overgrowth and vascular anomalies: Insights from the Cancer Genomics Consortium Working Group [0.03%]
Avinash V Dharmadhikari,Candace T Myers,Katherine A King et al.
Avinash V Dharmadhikari et al.
Somatic overgrowth and vascular anomalies are often present at birth but may be clinically recognized only later in life. Affected tissues commonly include veins and arteries, skin, adipose tissue, bone, and brain, resulting in a broad phen...
Tara L Wenger,Abbey A Scott,Lukas Kruidenier et al.
Tara L Wenger et al.
Purpose: To characterize the impact of hospital-wide implementation of inpatient first-tier rapid exome sequencing (rES) and rapid genome sequencing (rGS) at a large children's hospital. ...
Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study [0.03%]
SEPSECS缺陷的临床特征：一项国际、多中心、回顾性队列研究
Benjamin Y Killam,Maria J Knol,Noelia Fradejas-Villar et al.
Benjamin Y Killam et al.
Purpose: Protein-altering gene variants in SEPSECS disrupt the biosynthesis of selenoproteins, leading to a spectrum of neurological diseases. Methods: ...
The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility [0.03%]
基于患者的基因检测实用度指数(P-GUIDE)：一种新型个人效用衡量标准
Elise Poole,Bowen Xiao,Stephanie Luca et al.
Elise Poole et al.
Purpose: Consensus is lacking on how to define and measure the concept of personal utility in genomic medicine. The study objective was to develop and assess the validity of the Patient-reported Genetic testing Utility In...
Retrospective Study of Foramen Magnum Development in Patients with Achondroplasia Starting Vosoritide Before Age Three [0.03%]
回顾性研究生长激素促进蛋白融合素在三岁前开始使用 vosoritide 的软骨发育不全患者枕大孔发育中的作用
Marie Nakagawa,Natsuho Adachi,Motoyuki Umekawa et al.
Marie Nakagawa et al.
Purpose: Achondroplasia (ACH) is a monogenic skeletal dysplasia caused by gain-of-function variants in FGFR3, leading to impaired endochondral ossification and foramen magnum stenosis. Although vosoritide promotes endocho...
Familial Risk Stratification Across Cancer Syndromes Using Fam3PRO [0.03%]
利用Fam3PRO对不同癌症综合征进行家族风险分类
Jane W Liang,Gregory E Idos,Christine Hong et al.
Jane W Liang et al.
Purpose: Quantitative assessment of the risk of inherited cancer susceptibility should reflect the growing number of well-documented gene-cancer associations beyond single syndromes, to increase efficiency when identifyin...
Indigenous perspectives on biobanking, specimen storage, and data governance: A scoping review [0.03%]
土著人对生物库、标本保存和数据治理的观点：一项概要性审查
Caleigh Curley,Adam Fernandez,Breanna Lameman et al.
Caleigh Curley et al.
Purpose: Indigenous Peoples' concerns about how researchers collect, store, and use biospecimens have limited their participation in biospecimen-based research. Researchers must improve biospecimen governance to address t...
AAVC: An automated framework for high-accuracy ACMG-based variant classification [0.03%]
AAVC：一种基于ACMG的高准确度变异分类自动化框架
Arda R İnan,Barış Kayaalp,Fatimah Safieh et al.
Arda R İnan et al.
Purpose: Classification of DNA sequence data requires the implementation of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Therefore, automated tools have been developed. However, t...
Offering Phone-based Patient Navigation to Improve Receipt of Genetic Testing for Hereditary Colorectal Cancer: A Pilot Trial in an Academic-Affiliated Health System [0.03%]
移动电话导航改善学术附属医疗系统遗传性结直肠癌患者遗传咨询的接受度：一项试点研究
Sarah Knerr,Jacky Dahlquist,Marlana Kohn et al.
Sarah Knerr et al.
Purpose: To determine whether offering patients newly diagnosed with colorectal cancer (CRC) access to free, phone-based patient navigation increased rates of referral, counseling, and germline genetic testing relative to...
"It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network [0.03%]
“没有什么不同寻常的感觉，因为我们已经历了太多”——关于未诊断疾病研究网络中儿童及其家庭的经历的质性研究
Kevin T Mintz,Elisa N Altamirano,Meghan C Halley et al.
Kevin T Mintz et al.
Purpose: In recent years, researchers have brought attention to the underrepresentation of people with disabilities in biomedical research, including genomics research. However, little is known about how disability-relate...