Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in PKD1 via a de novo-common variant complex allele [0.03%]
基因组和转录组测序揭示PKD1假 exon致病激活的新生-常见变异复合等位基因机制
Sangwoo T Han,Atteeq U Rehman,Sowmya Thirumalai Srinivasa et al.
Sangwoo T Han et al.
Purpose: Despite improvements in and access to clinical genetic testing, many patients with classic phenotypes remain without a molecular diagnosis. Such cases may reflect variants in noncoding regions or complex alleles ...
Identifying and characterizing the germinal genetic landscape of men with prostate cancer: A real-life, retrospective, multicenter study [0.03%]
前列腺癌患者的生殖细胞系基因组特征的真实世界研究
Ran Svirsky,Batya Sonnenfeld,Inbal Kedar et al.
Ran Svirsky et al.
Purpose: Genetic factors play a role in prostate cancer (PCa) development. This real-life, retrospective, multicenter study aimed to identify and characterize the germline genetic testing landscape in men with PCa and to ...
Reasons for refusal of genetic testing in the evaluation of autism spectrum disorder and intellectual developmental disorder with longitudinal follow-up on test completion [0.03%]
自闭症谱系障碍和智力发育障碍基因检测拒检原因及随访检测完成情况研究
Kai Russell,Kyla Arcebido,Andryella Maxie Ibarra et al.
Kai Russell et al.
Purpose: Autism and Intellectual and Developmental Disorder (IDD) are neurodevelopmental conditions influenced by genetic factors. Health organizations recommend genetic testing as part of medical care for individuals dia...
Ethical and social implications of implementing polygenic embryo screening into clinical care: A scoping review [0.03%]
多基因胚胎筛查临床应用的伦理和社会影响：综述研究
Betty Cohn,Dorit Barlevy,Gabriel Lázaro-Muñoz
Betty Cohn
Purpose: Polygenic embryo screening (PES), or preimplantation genetic testing for polygenic conditions/traits, is an emerging application of polygenic risk scores within in vitro fertilization. Marketed commercially to pr...
Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review [0.03%]
关于扩展携带者筛查的患者和卫生保健提供者的体验和观点：系统综述
Sakina Walji,Sahana Kukan,Amanda L Terry et al.
Sakina Walji et al.
Carrier screening identifies individuals/couples at risk for autosomal recessive conditions, and expanded or universal approaches are increasingly being recommended. Implementation poses clinical, ethical, and logistical challenges that rem...
Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses [0.03%]
通过详细的基因型-表型分析扩大遗传的ASXL3谱系并揭示分子机制
Emily Woods,Nicola Holmes,Catherine Gooch et al.
Emily Woods et al.
Purpose: ASXL3-related disorder is a highly heterogeneous neurodevelopmental disorder, with increasing reports of inherited and recurrent variants indicating substantial intrafamilial phenotypic variability, as well as th...
The distinct molecular profile of metastatic prostate cancer in the mixed Brazilian population [0.03%]
巴西混血人口转移性前列腺癌的独特分子特征
Gabriel S Macedo,Jaqueline Bohrer Schuch,Nathan Araujo Cadore et al.
Gabriel S Macedo et al.
Purpose: The carcinogenesis of metastatic prostate cancer results from complex interactions between genetic and environmental factors. The genomic profiles of admixed populations, such as Brazilians, are still poorly expl...
The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort [0.03%]
爱尔兰群体中剪接因子基因变异景观分析
Laura K Finnegan,Anna R Ridgeway,Matthew Carrigan et al.
Laura K Finnegan et al.
Purpose: Variants in pre-messenger RNA (mRNA) processing genes account for ∼15% to 20% of autosomal dominant retinitis pigmentosa, causing severe vision loss. We provide an in-depth characterization of pre-mRNA-processin...
Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome [0.03%]
快速功能RNA分析通过羊水细胞重编程解决胎儿运动障碍综合征产前变异模糊性
Yiming Qi,Jiahui Sun,Wei He et al.
Yiming Qi et al.
Mar Giner-Calabuig,Seila De Leon,Gemma Vidal-Pedrola et al.
Mar Giner-Calabuig et al.
Purpose: Lynch-like syndrome (LLS) is associated with an incomplete understanding of its molecular basis. Some LLS tumors harbor somatic variants in mismatch repair genes, whereas germline variants in other DNA repair gen...