Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools [0.03%]
常规的RNA基元分析潜在剪接变异有利于基因组诊断并揭示了计算机预测工具的局限性
Mark Drost,Jordy Dekker,Federico Ferraro et al.
Mark Drost et al.
DNA variants affecting pre-mRNA splicing are an important cause of genetic disorders and remain challenging to interpret without experimental data. Although variant classification guidelines recommend experimental characterization of varian...
Genome-Wide Association Study Reveals Genetic Mechanisms underlie Eye Disorders and Comorbidities [0.03%]
全基因组关联研究揭示了眼科疾病及并存症的遗传机制
Chia-Ni Hsiung,Wen-Cheng Chou,Chih-Hsiung Hsu et al.
Chia-Ni Hsiung et al.
Eye diseases, including cataracts, glaucoma, diabetes retinopathy, and age-related macular degeneration, are major global health challenges and leading causes of blindness. This study leveraged genome-wide association studies (GWAS) involvi...
The Karnataka Individual Genome Project expands the human reference landscape to include South Asia [0.03%]
印度卡纳塔克邦人类基因组计划将参考基因组扩展至南亚地区
Apoorva Ganesh,Anisha Mhatre,Yash Chindarkar et al.
Apoorva Ganesh et al.
Assembling individual genomes remains an expensive endeavor, hindering large-scale comparative human genomics. So far, chromosome-level assemblies of only a few individuals including PR1 (Puerto Rican), Ash1 (Ashkenazi Jew), Han1 (Sothern H...
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties [0.03%]
具有显性神经表型的天冬酰胺氨酰- tRNA 合酶 (NARS1) 变体表现出负 dominance性质
Sheila M Peeples,Keyana Blake,Brendan L M Sutton et al.
Sheila M Peeples et al.
Aminoacyl-tRNA synthetases (ARSs) are essential, ubiquitously expressed enzymes that ligate amino acids to cognate tRNAs in the cytoplasm and mitochondria. To date, seven dimeric ARS enzymes have been implicated in dominant inherited neurop...
Biallelic INTU variants define a ciliopathy disorder characterized by orofacial, digital and cardiac anomalies [0.03%]
INTU双等位基因变异定义了一种以颜面部、手指和心脏异常为特征的纤毛病 Disorders of the ciliopathies are often associated with craniofacial malformations, ectodermal defects, heart disease, genitourinary anomalies, and polydactyly. Here, we report four individuals from two independent families who have unique orofacial, digital and c
Rebekah Rushforth,Kurt Reynolds,Steven I Estes et al.
Rebekah Rushforth et al.
The primary cilium is a small organelle that plays key roles in cellular signaling. Defects in primary cilia formation, morphology, and function cause a heterogeneous group of developmental syndromes termed ciliopathies. The Inturned planar...
Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8 [0.03%]
异常的N-糖基化可能是锰转运蛋白ZIP8常见且多效性变异体携带者的治疗靶点
Vartika Tomar,John Kang,Ruxian Lin et al.
Vartika Tomar et al.
The treatment of defective glycosylation in clinical practice has been limited to patients with rare and severe phenotypes associated with congenital disorders of glycosylation (CDG). Carried by approximately 5% of the human population, the...
Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers [0.03%]
针对特定通路的多基因评分大幅增加了发现影响肝脏生物标志物的基因-肥胖度相互作用的发现率
Kenneth E Westerman,Daniel I Chasman,W James Gauderman et al.
Kenneth E Westerman et al.
Polygenic scores (PGS) are appealing for detecting gene-environment interactions, due to the aggregation of genetic effects and reduced multiple testing burden compared to single-variant genome-wide interaction studies (GWIS). However, stan...
Daniel Epting,Daniela A Braun,Eva Decker et al.
Daniel Epting et al.
Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene stil...
A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap [0.03%]
应用于脂质特征和重叠样本的炎症性肠病亚型的稳健多效性方法及其应用
Jiwon Park,Debashree Ray
Jiwon Park
Pleiotropy, the phenomenon where a genetic region confers risk to multiple traits, is widely observed, even among seemingly unrelated traits. Knowledge of pleiotropy can improve understanding of biological mechanisms of diseases/traits, and...
Genetics of SSRI Antidepressant Use and Relationship to Psychiatric and Medical Traits [0.03%]
选择性5-羟色胺再摄取抑制剂的遗传学及其与精神和躯体特征的关系
Daniel Levey,Marco Galimberti,Joseph Deak et al.
Daniel Levey et al.
Antidepressants are among the most-prescribed drugs worldwide, and selective serotonin reuptake inhibitors (SSRIs) are among the most prescribed antidepressants, most commonly used for major depression. We sought to increase our understandi...