The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations [0.03%]
AP5B1基因(p.Leu785Pro变异)是晚期发病视网膜劈裂症的常见原因，伴有各种各样的额外体征
Petra Liskova,Lubica Dudakova,Karolina Kaminska et al.
Petra Liskova et al.
Inherited retinal diseases (IRDs) represent a large group of genetically heterogeneous disorders that often cause progressive visual loss. The fifth adaptor protein (AP-5) complex, which contributes to endolysosomal trafficking and lysosoma...
Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness [0.03%]
遗传关联元分析易受研究间隐蔽亲缘关系的影响
Tiffany Tu,Alejandro Ochoa
Tiffany Tu
Meta-analysis of Genome-Wide Association Studies (GWAS) has important advantages, but it assumes that studies are independent, which does not hold when there is relatedness between studies. As a motivating example, recent work suggested app...
Gene-environment interactions contribute to blood pressure variation across global populations [0.03%]
基因-环境互作影响全球人群的血压变异
Khushi Goda,Noah Klimkowski Arango,Francesco Tiezzi et al.
Khushi Goda et al.
Understanding the interplay between genetics and environment is essential for elucidating the biological basis of complex traits such as blood pressure (BP). Although gene-environment interactions (G×E) contribute to BP variation, their ro...
Identification of genetic variants associated with idiopathic inflammatory myopathies via cross-trait analysis with B-cell lymphomas [0.03%]
通过与B细胞淋巴瘤的跨性状分析鉴定与特发性炎性肌病相关的遗传变异体
Weng Ian Che,James N Jarvis,Anton Öberg Sysojev et al.
Weng Ian Che et al.
The genetic architecture of idiopathic inflammatory myopathies (IIM) remains incompletely defined. When increasing sample size is not feasible, cross-trait analysis of genetically correlated diseases offer an effective strategy for discover...
Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci [0.03%]
利用人类面部形态遗传学增强唇腭裂风险位点的发现
Noah Herrick,Seppe Goovaerts,Alexandra Manchel et al.
Noah Herrick et al.
Several lines of evidence suggest that normal-range facial features and nonsyndromic orofacial clefts (OFCs) exhibit a shared genetic basis. Approaches designed to leverage this relationship hold the possibility of revealing new OFC risk lo...
Aggregate variant calling using short reads enables population and disease studies for paralogous genes [0.03%]
基于短读测序的基因集变异检测使我们能够开展拷贝数变异基因组的群体及疾病研究
Timofey Prodanov,Sang Yoon Byun,Vikas Bansal
Timofey Prodanov
Variant calling in paralogous genes using short-read sequencing is problematic due to mapping ambiguity between highly similar sequences. Aggregate variant calling, which treats paralogous loci as a single locus by realigning reads to a mas...
Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families [0.03%]
通过多代家庭中不同突变类型扩展TUBB2B的临床及分子图谱
Shaghayegh T Beheshti,Angad Jolly,Ahmed K Saad et al.
Shaghayegh T Beheshti et al.
TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B are associated with neurodevelopmental disorders including polymicrog...
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling [0.03%]
CRISPR介导的POGZ基因敲除改变参与突触信号转导的基因启动子处转录因子的结合
Mariana Moyses-Oliveira,Yating Liu,Serkan Erdin et al.
Mariana Moyses-Oliveira et al.
One of the seminal discoveries from genetic studies of autism spectrum disorder and related neurodevelopmental disorders (NDD) has been that loss-of-function (LoF) mutations in genes that impact transcriptional regulation confer substantial...
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy [0.03%]
藻糖转移酶 ALG14 突变导致的一种糖基化异常综合征：先天性肌无力和癫痫共患综合征的一个新病因发现
Jonathan Marquez,Flavien Rouxel,Fatima E It et al.
Jonathan Marquez et al.
Asparagine-linked glycosylation 14 (ALG14) is a UDP-GlcNAc transferase that catalyzes the second sugar addition in the synthesis of the dolichol-linked oligosaccharide precursor in N-linked glycosylation, ultimately contributing to glycosyl...
Psychometric Validation of the Education and Assessment of Genetic Literacy or EAGL Measure [0.03%]
遗传素养教育和评估的EAGL测量的心理计量学验证
Lily S Barna,Yi Liao,Michael R Wierzbicki et al.
Lily S Barna et al.
Genetic literacy is an integral measure for examining society's interaction with genetics, but widely-used "genetic literacy" measures lack both knowledge comprehension measures and psychometric validation. To address these issues, we valid...