Challenges in Clinical Translation of Polygenic Risk Score Analyses: A Systematic Review [0.03%]
多基因风险评分分析临床转化的挑战：系统综述
Diana Martínez-Minguet,René Noel,Alberto G Simón et al.
Diana Martínez-Minguet et al.
Purpose: The translation of polygenic risk score (PRS) analyses into clinical practice is gaining momentum, yet remains limited by multiple implementation barriers studied across fragmented research lines. This study aims...
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions [0.03%]
DNA修复基因的多基因变异与神经发育障碍、倒退和体细胞负担增加及短串联重复序列扩张增多有关
Maria Cerminara,Giovanni Spirito,Luca Pandolfini et al.
Maria Cerminara et al.
Purpose: Developmental regression, characterized by the loss of acquired milestones, occurs in some individuals with neurdevelopmental disorders (NDDs), yet its molecular basis remains unclear. Studies suggest that DNA da...
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome [0.03%]
RNU4-2基因病理性变异的深度表型分析揭示一种可识别综合征
Irene Valenzuela,Marta Codina-Solà,Elida Vazquez et al.
Irene Valenzuela et al.
Economic evaluation of next-generation sequencing technologies in paediatric patient groups with confirmed or possible rare diseases: A systematic literature review [0.03%]
下一代测序技术在儿科罕见病患者群体中的经济评价——系统文献回顾
Marianna De Stefano,Rudolf van Olden,Elnaz Arjmand et al.
Marianna De Stefano et al.
Purpose: Next-generation sequencing (NGS) can accelerate the diagnosis of rare diseases (RDs). Economic evaluations assess the costs and benefits of new technologies and can help inform policy decisions on upscaled adopti...
Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice [0.03%]
万人基因组计划中的儿科基因组测序研究及其临床应用转化
Emma Wakeling,Rashida Baptiste,Clarissa Rocca et al.
Emma Wakeling et al.
Purpose: Genome sequencing (GS) is increasingly used to investigate rare conditions, primarily in children. The 100,000 Genomes Project (100KG) evaluated GS ahead of implementation in the English National Health Service. ...
Ronja Hotakainen,Kaisa Kettunen,Anna-Kaisa Anttonen et al.
Ronja Hotakainen et al.
Correspondence on "Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries" by Hotakainen et al [0.03%]
赫塔卡宁等关于“基于gnomAD v4.0数据估算不同族裔群组的常染色体隐性遗传和X连锁隐性遗传疾病基因频率”的来信回复
Mia J Gruzin,Swaroop Aradhya,Leslie Burnett
Mia J Gruzin
Non-neoplastic causes of death in neurofibromatosis 1: A cohort study with long-term follow-up [0.03%]
神经纤维瘤病1型非肿瘤性死亡的病因学：一项长期随访队列研究
Mia Aagaard Doherty,Kathrine Grell,Hanne Hove et al.
Mia Aagaard Doherty et al.
Purpose: Neurofibromatosis 1 (NF1) is associated with reduced life expectancy due to malignancies; however, the risk of non-neoplastic causes of death is less well characterised. ...
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations [0.03%]
基因组时代TTN变异体的负担：对解决罕见病联盟18,462名个体的数据进行分析及总体建议
Maria Francesca Di Feo,Ida Paramonov,Leslie Matalonga Borrel et al.
Maria Francesca Di Feo et al.
Purpose: Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% of the population carrying a rare TTN variant and over 60 mill...
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort [0.03%]
基于All of Us研究计划队列的神经纤维瘤病1型、常染色体显性多囊肾病和马方综合征的表型和外显率的基因型优先评估
Stephanie A Felker,Bruce R Korf,Gregory S Barsh
Stephanie A Felker
Purpose: Phenotype-based ascertainment of probands in studies of Mendelian disorders may exclude individuals with mild phenotypes or that lack health care access. We explore this premise in All of Us Research Program part...