Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study [0.03%]
遗传性额颞叶痴呆症状前基因检测利弊：定性研究
Charlotte H Graafland,Harro Seelaar,Jessica L Panman et al.
Charlotte H Graafland et al.
The majority of individuals at 50% risk of carrying a pathogenic variant causing frontotemporal dementia (FTD) chooses not to undergo presymptomatic genetic testing. To explore reasons of individuals at risk of genetic FTD for and against g...
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes [0.03%]
一种基于人工智能和真实世界临床数据的基因排名算法Multiscore在近万个外显子组和全基因组的数据中具有极高的单基因病分子诊断灵敏度
Vincent D Ustach,Maria J Guillen Sacoto,Stephen McGee et al.
Vincent D Ustach et al.
A challenge for clinical exome and genome sequencing (ES/GS) analysis is correlating the clinical presentation of the cases being tested with known gene-phenotype associations (GPAs). We developed Multiscore, a gene prioritization tool, to ...
RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women [0.03%]
RPGRorf15纳米孔长读测序可改善男性和女性色素性视网膜炎分子诊断
Manon Fabard,Aurore Devos,Anaïs F Poncet et al.
Manon Fabard et al.
RPGR (Retinitis Pigmentosa GTPase Regulator) is the main gene involved in X-linked retinitis pigmentosa (RP) and up to 28% of sporadic RP. Pathogenic variants are mostly located in its retina-specific transcript, RPGRorf15, especially in th...
Leveraging polygenic risk scores to infer causal directions in genotype-by-environment interactions between complex traits [0.03%]
利用多基因风险评分推断复杂性状之间基因型与环境交互作用的因果关系方向
Zinabu Fentaw,Buu Truong,Dovini Jayasinghe et al.
Zinabu Fentaw et al.
Most existing genotype-by-environment interaction (G×E) methods assume a known causal direction as an assumption that often does not hold and can lead to biased estimates and spurious findings. To address this, we introduce the Genetic Cau...
Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [0.03%]
LIM家盒同源框1(LHX1)基因的镶嵌变异与梅耶尔-罗克坦斯基-库斯特-哈USER的综合征有关
Dina Kira,Soumia Brakta,Hyung Goo Kim et al.
Dina Kira et al.
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses [0.03%]
TPP1变异导致的神经元 ceroid 淀粉样变性病2型：对20名伊朗患者的临床研究，奠基者效应和计算机分析
Sajjad Biglari,Halimeh Rezaei,Elnaz Asadollahzadeh et al.
Sajjad Biglari et al.
Deviations from additivity in APOE4-mediated late-onset Alzheimer's disease risk across races and ethnicities [0.03%]
APOE4在不同人种和族裔中介导晚发性阿尔茨海默病风险的非加性偏差
Razaq O Durodoye,Timothy H Ciesielski,Penelope Benchek et al.
Razaq O Durodoye et al.
APOE’s ε4 haplotype (APOE4) is late onset Alzheimer’s disease’s (LOAD) strongest genetic risk factor. Therefore, accurately modeling APOE4’s effect is critical to understanding LOAD. This is especially important as APOE4 odds ratios (O...
Max Shpak,Eric Parfitt,Soroush Mahmoudiandehkordi et al.
Max Shpak et al.
Common diseases exhibit substantial heritability, and GWAS of these diseases have revealed hundreds of thousands of high-frequency disease susceptibility variants throughout the genome. These studies offer the prospect of using genomic data...
Cockayne syndrome mutation in XPG activate the integrated stress response [0.03%]
柯肯艾因氏综合症中XPG突变激活整合应激反应
Danhui Zhang,Max Hartmann,Zhouli Cao et al.
Danhui Zhang et al.
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are diseases provoked by mutations in multifunctional proteins that are involved in DNA repair. DNA-repair deficiency explains the high cancer incidence of XP, whereas cancer-free CS, ch...
Case Reports
Human genetics. 2026 Jan 21;145(1):15. DOI:10.1007/s00439-025-02804-3 2026
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases) [0.03%]
土耳其男性不育的遗传特征：染色体异常和Y染色体微缺失(1314例报告)
Tülay Tos,Tufan Çiçek,Aida Nurul Barokah et al.
Tülay Tos et al.