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...
Combining rare and common genetic variants improves population risk stratification for breast cancer [0.03%]
罕见遗传变异和常见遗传变异的结合可改善乳腺癌的人群风险分类
Alexandre Bolze,Daniel Kiser,Kelly M Schiabor Barrett et al.
Alexandre Bolze et al.
Purpose: This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population. ...
Exploring current challenges in the technologist workforce of clinical genomics laboratories [0.03%]
探究临床基因组学实验室技术人才面临的挑战
Yassmine Akkari,Sheila Dobin,Robert G Best et al.
Yassmine Akkari et al.
Purpose: Workforce shortages are observed in many sectors of the economy, including clinical genomics laboratories. Although medical technologists are essential for the primary functions of laboratory operations and many ...
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management [0.03%]
针对神经发育障碍门诊病人的公共资金外显子组测序显示出影响医疗管理的意外发现率很高
Yara Nakhleh Francis,Tova Hershkovitz,Nina Ekhilevitch et al.
Yara Nakhleh Francis et al.
Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpa...