PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants [0.03%]
用于罕见非同义单核苷酸变异的致病风险预测方法研究
Jee Yeon Heo,Ju Han Kim
Jee Yeon Heo
Reliable prediction of pathogenic variants plays a crucial role in personalized medicine, which aims to provide accurate diagnosis and individualized treatment using genomic medicine. This study introduces PRP, a pathogenic risk prediction ...
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma [0.03%]
基于APM相关基因特征的肝细胞癌预后及免疫治疗反应预测模型
Shangdi Zhang,Kewei Du,Shan Gao et al.
Shangdi Zhang et al.
Hepatocellular carcinoma (HCC) is a primary liver malignancy with a dismal prognosis. This study established and validated a prognostic model based on antigen-processing and presenting machinery (APM)-related genes through Mendelian randomi...
Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study [0.03%]
关于成人期发病的遗传性神经退行性疾病突变携带者对疾病发生和发展预测的偏好定性访谈研究
Max J Rensink,M H N Schermer,A Tibben et al.
Max J Rensink et al.
Currently, new research projects aim to develop prognostic models that more accurately predict the age of onset and progression of disease for adult-onset autosomal dominant neurodegenerative diseases that lack disease-modifying treatments....
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome [0.03%]
全基因组测序在儿童难治性肾病综合征中发现单基因突变比例达56.1%
Neveen A Soliman,Mohamed A Elmonem,Ahmed F El-Sayed et al.
Neveen A Soliman et al.
Genetic causes of steroid-resistant-nephrotic-syndrome (SRNS) represent a rapidly growing number of monogenic diseases. The reported diagnostic yield of various studies applying genetic panels and exome-sequencing to diagnose SRNS is usuall...
Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population [0.03%]
德国人群中Fuchs角膜内皮营养不良的全基因组关联研究
Juliane Fechner,Guilherme B Neumann,Fabia Murza et al.
Juliane Fechner et al.
The genetic etiology of Fuchs Endothelial Corneal Dystrophy (FECD) is not yet fully elucidated. While the disease is widespread and the leading indication for corneal transplantation in the Western world, the concurrent shortage of corneal ...
A genomic tale of inbreeding in western Mediterranean human populations [0.03%]
西地中海人类群体近亲繁殖的基因组研究故事
Candela L Hernández,Luis J Sánchez-Martínez,Francisco C Ceballos et al.
Candela L Hernández et al.
Consanguineous marriages are common in many worldwide human populations, and the biological consequences for offspring can be relevant at the biomedical level. The current genomic revolution displayed through genome-wide studies is challeng...
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort [0.03%]
印度人群中SPTB基因变异引起遗传性球形红细胞增多症的遗传结构和表型景观研究
Tejashree Anil More,Prabhakar Kedar
Tejashree Anil More
Hereditary spherocytosis (HS) is a common form of haemolytic anaemia caused by defects or deficiencies in genes encoding erythrocyte membrane proteins, such as ANK1, SPTB, SLC4A1, EPB42, and SPTA1. Among these, ANK1 and SPTB mutations are t...
Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature [0.03%]
germline遗传检测后在遗传性癌症基因中的二级发现-文献系统综述
Eva Avsec,Ana Blatnik,Mateja Krajc
Eva Avsec
In the last decade the increasing use of germline genetic testing has led to frequent discoveries of secondary findings (SF) in hereditary cancer (HC) genes. Disclosure and clinical management of such findings are still not clearly defined ...
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference [0.03%]
利用大规模语言模型和贝叶斯推理进行人群规模变异分类的基因型和表型数据挖掘
Toby R Manders,Christopher A Tan,Yuya Kobayashi et al.
Toby R Manders et al.
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet clinical data that could reduce VUS are underutilized due to a lack of scalable strategies. We assessed whether a machin...
Advancing chronic myeloid leukemia research with next-generation sequencing: potential benefits, limitations, and future clinical integration [0.03%]
下一代测序在慢性髓性白血病研究中的应用：潜在益处、局限性和未来临床整合展望
Henry Sutanto,Laras Pratiwi,Pradana Zaky Romadhon et al.
Henry Sutanto et al.
Next-generation sequencing (NGS) has emerged as a powerful tool for advancing research in chronic myeloid leukemia (CML) by providing a deeper understanding of its genetic complexity. Beyond detecting the hallmark BCR::ABL1 fusion gene, NGS...