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...
Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia [0.03%]
产前诊断胎儿先天性膈疝的遗传负荷及多维度预测因素
Ruibin Huang,Fang Fu,Shanshan Mei et al.
Ruibin Huang et al.
This study aims to assess the genetic burden of fetal congenital diaphragmatic hernia (CDH) and identify prenatal, perinatal, and postnatal predictors to improve early diagnosis, monitoring, and intervention. This study included 130 CDH fet...
BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science [0.03%]
基于区块链技术的多中心BRCA变异数据共享框架支持诊断参考和中国监管科学研究
Shoufang Qu,Rongzhi Liu,Shisen Li et al.
Shoufang Qu et al.
High-quality, regulatory-grade databases for precise genetic variant interpretation are critically needed for Chinese populations, where existing fragmented databases impede clinical effectiveness evaluations. We developed BRCA-CN, a consor...
Liezel Tamon,James Ashford,Matthew Nicholls et al.
Liezel Tamon et al.
The multiplexed layers of regulatory processes and mechanisms within a cell are, to a degree, encoded in our genome. Unravelling the relationship between DNA sequence and molecular processes is crucial for understanding evolution, interpret...
uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia [0.03%]
LDLR基因中产生uAUG的变异导致轻度家族性高胆固醇血症
Alexandra Filatova,Petr Vasiluev,Evgeniya Osipova et al.
Alexandra Filatova et al.
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) levels, leading to early-onset cardiovascular disease. FH is primarily caused by pathogenic variants in the LDLR gene, affectin...
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential [0.03%]
AHDC1的分子特征：一个具有广泛功能潜力而被忽视的基因的新见解
Silvana Bochicchio,Aurora Mazzetti,Lorenzo Graziani et al.
Silvana Bochicchio et al.
Despite two decades since the completion of the human genome, many genes remain poorly understood, with their functions largely unknown. Among these, AHDC1 stands out as a top-ranking gene in the SFARI database due to its role in the rare a...
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans [0.03%]
DNAH7双等位基因功能丧失变异导致与精子活力低下相关的男性不育症
Guicheng Zhao,Jun Ma,Yingteng Zhang et al.
Guicheng Zhao et al.
Although variants in DNAH family genes have been suggested as a main contributor to asthenozoospermia in humans, the role of DNAH7 on male fertility remains largely unexplored. In this study, loss-of-function variants in DNAH7 were identifi...
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics [0.03%]
考虑变异的配方：公平的全球皮肤护理产品基因组框架
Eqram Rahman,William Richard Webb,Parinitha Rao et al.
Eqram Rahman et al.
Despite advances in dermatogenomics, the global skincare industry continues to rely on generalized formulation strategies that overlook population-specific genetic variation. This study introduces a mutation-aware framework that bridges thi...
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea [0.03%]
与膜蛋白相互作用的连接子蛋白26在耳蜗中的功能研究
Jennifer Costa Leoncio,Ana Carla Batissoco,Thiago Geronimo Pires Alegria et al.
Jennifer Costa Leoncio et al.
Connexin 26, the protein encoded by the GJB2 (Gap junction protein beta 2) gene, is expressed in different tissues, including the cochlea and skin. Pathogenic DNA alterations in GJB2 cause autosomal recessive nonsyndromic hearing loss, wher...