Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study [0.03%]
基于家系的代谢性状全基因组关联研究揭示饮食是非遗传效应的重要来源
Han Xiao,Zechen Zhou,Yujia Ma et al.
Han Xiao et al.
Within-family genome-wide association studies (GWAS) can separate direct genetic effects from non-direct genetic biases introduced by analyses based on unrelated individuals, yet evidence regarding metabolic phenotypes remains sparse. Here,...
Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region [0.03%]
日本Y染色体的进化分析了单倍群以及AZFc区域基因的缺失
Kenshiro Nii,Atsushi Tada,Yusuke Nakagawa et al.
Kenshiro Nii et al.
Most males in modern Poland carry Y-chromosomal lineages from clades that have recently expanded over Central, Eastern and South-Eastern Europe [0.03%]
现代波兰大多数男性携带的Y染色体谱系来自最近在中欧、东欧和东南欧扩张的支系
Michał Milewski,Mateusz Dawidziuk
Michał Milewski
Previous studies on Y-chromosomal haplogroup diversity in Poland have been focused mainly on macro-haplogroups. Consequently, younger subclades have rarely been explored to elucidate the relatively recent history of the Polish population. H...
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease [0.03%]
基于血液的DNA甲基化谱在炎症性肠病中的分析研究
Trevor Doherty,Edel McDermott,Sarah Jane Delany et al.
Trevor Doherty et al.
Inflammatory bowel diseases (IBDs) are chronic inflammatory disorders influenced by environmental factors and characterised by a dysregulated immune response. DNA methylation (DNAm) a key epigenetic mechanism plays a role in the etiology of...
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations [0.03%]
GSDME基因变异研究鉴定出首个致病同义突变并揭示基因型与临床表型之间的关联
Joseph J Chin,W Daniel Walls,Kai Wang et al.
Joseph J Chin et al.
Despite advances in the genetic diagnosis of hearing loss, there remains room for improvement. One way to improve the genetic diagnostic rate is the proper assessment of synonymous variants that are often bioinformatically filtered out. We ...
Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study [0.03%]
已诊断与未诊断的乳糜泻患者间的基因差异：基于人口的群体研究
Mohammad Sayeef Alam,Brooke N Wolford,Kristian Hveem et al.
Mohammad Sayeef Alam et al.
A large proportion of individuals with celiac disease (CeD) remain undiagnosed, often presenting at an older age of onset or with non-classical symptoms compared to diagnosed cases. Such heterogeneity might be related to genetic factors. Th...
Correction: A genomic tale of inbreeding in western Mediterranean human populations [0.03%]
关于西地中海人种基因组中的近婚故事的更正通知
Candela L Hernández,Luis J Sánchez-Martínez,Francisco C Ceballos et al.
Candela L Hernández et al.
Published Erratum
Human genetics. 2025 Sep 23. DOI:10.1007/s00439-025-02773-7 2025
Regulating genome language models: navigating policy challenges at the intersection of AI and genetics [0.03%]
规范基因组语言模型：在人工智能与遗传学交叉领域的政策挑战导航
Bahrad A Sokhansanj,Gail L Rosen
Bahrad A Sokhansanj
Genome Language Models (GLMs) represent a transformative convergence of artificial intelligence (AI) and genomics, offering unprecedented capabilities for biological discovery, healthcare innovation, and therapeutic design applications. How...
Disentangling horizontal and vertical Pleiotropy in genetic correlation estimation: introducing the HVP model [0.03%]
在遗传相关性估计中解开水平和垂直多效性的纠缠：引入HVP模型
Lamessa Dube Amente,Natalie T Mills,Thuc Duy Le et al.
Lamessa Dube Amente et al.
Genome-wide genetic correlation studies have demonstrated widespread shared genetic architecture between complex traits, yet the impact of vertical pleiotropy on these genetic correlation estimates remains unclear. To address this, we propo...
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects [0.03%]
TWNK位点的隐性变异通过线粒体DNA复制缺陷导致综合征性和非综合征性的突触后听神经病
Xue Gao,Ying Ma,Wei-Qian Wang et al.
Xue Gao et al.
Recessive variants in TWNK cause syndromes arising from mitochondrial DNA (mtDNA) depletion. Hearing loss is the most prevalent manifestation in individuals with these disorders. However, the clinical and pathophysiological features have no...