A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship [0.03%]
澳大利亚基因组学心血管疾病旗舰项目的多层分析平台的设计和初步发现
Rachel Austin,Jaye S Brown,Sarah Casauria et al.
Rachel Austin et al.
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve varia...
Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing [0.03%]
遗传咨询师：用于支持临床基因组检测的新型患者数字健康应用的开发和可用性测试
Marc Clausen,Suvetha Krishnapillai,Daena Hirjikaka et al.
Marc Clausen et al.
Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings....
Non-RB1 germline cancer predisposing variants found in retinoblastoma patients [0.03%]
视网膜母细胞瘤患者中发现的非RB1系致癌基因变异
Ana Maria Rodriguez Barreto,Michael F Walsh,Melissa A Robbins et al.
Ana Maria Rodriguez Barreto et al.
Purpose: It is well known that individuals with hereditary retinoblastoma are at lifelong high risk for developing subsequent malignant neoplasms (SMN). However, the role that non-RB1 germline variants play in tumorigenes...
The impact of the Turkish population variome on the genomic architecture of rare disease traits [0.03%]
土耳其人口变异体对罕见疾病特征基因组结构的影响
Zeynep Coban-Akdemir,Xiaofei Song,Francisco C Ceballos et al.
Zeynep Coban-Akdemir et al.
Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of disease. ...
Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients [0.03%]
种族隔离与医疗不足患者的相关基因组学知识、自我效能感、感知重要性和沟通交往
Jemar R Bather,Melody S Goodman,Kimberly A Kaphingst
Jemar R Bather
Purpose: There is limited research on the relationship between structural environmental factors and genomics-related knowledge, self-efficacy, perceived importance, and communication. We examined the potential impact of r...
Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion [0.03%]
由初级保健医师管理的临床遗传学电子咨询业务的过程和结果
Benjamin J Kerman,Carrie B L Zawatsky,Elizabeth Fieg et al.
Benjamin J Kerman et al.
Purpose: Timely access to clinical genetics consultations remains a barrier to timely genomic medicine services, which new service delivery models might help address. ...
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome [0.03%]
探究Yunis-Varon综合征表型谱及骨质减少机制
Éliane Beauregard-Lacroix,Alexandra Scott,Thi Tuyet Mai Nguyen et al.
Éliane Beauregard-Lacroix et al.
Purpose: Biallelic variants in FIG4 or VAC14 are associated with Yunis-Varón syndrome (YVS), which is characterized by multisystem involvement including skeletal findings, craniofacial dysmorphisms and central nervous sy...
Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
特拉菲肽治疗雷特综合征（RTT）获准用于儿童和成人患者——美国医学遗传学与基因组学学院（ACMG）药物通讯
Pavalan Selvam,Carlos F Mares Beltrán,Kuntal Sen et al.
Pavalan Selvam et al.
Tracking updates in clinical databases increases efficiency for variant reanalysis [0.03%]
对临床数据库中的更新进行追踪可提高变异重复分析的效率
Lele Li,Xia Tian,Vaughan Woodzell et al.
Lele Li et al.
Purpose: Variant interpretation, guided by American College of Medical Genetics and Genomics guidelines, can inform clinical decision-making. However, interpretations may change over time for a variety of reasons. Periodi...
Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes [0.03%]
携带单一或双重致癌易感基因致病性变异个体的癌症负担
Nihat B Agaoglu,Brittany L Bychkovsky,Carolyn Horton et al.
Nihat B Agaoglu et al.
Purpose: As panel testing expands, more individuals with double pathogenic variants (DPVs) in cancer susceptibility genes are likely to be identified. Little is known about the effects of DPVs on cancer phenotype, althoug...