Genetic architecture of 67 oral diseases and their links to systemic diseases [0.03%]
口腔疾病的遗传结构及其与全身疾病的关系
Kirika Karppinen,Hanna M Ollila,Kanwal Batool;FinnGen;Estonian Biobank Research Team;Erik Abner et al.
Kirika Karppinen et al.
Oral and craniofacial diseases are common, yet their genetic basis and links to systemic health are incompletely understood. We performed genome-wide association analyses of 67 oral phenotypes in 500,348 FinnGen participants, identifying 10...
Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier [0.03%]
基于纳米孔的单倍型解析X染色体失活分析在X连锁疾病严重程度评估中的临床应用：AIFM1家族研究及PDHA1嵌合突变个体的概念验证应用
Kohta Nakamura,Atsuko Okazaki,Daisuke Motooka et al.
Kohta Nakamura et al.
X-chromosome inactivation (XCI) modifies disease severity in females with X-linked variants, but clinically applicable high-resolution assessment remains limited. We report a family with an AIFM1 variant showing marked intrafamilial phenoty...
Integrated Transcriptomic and Functional Analysis Reveals Tissue-Specific Molecular Pathology in Adolescent Idiopathic Scoliosis [0.03%]
整合转录组和功能分析揭示青少年特发性侧凸的组织特异性分子病理学
Darius Ramkhalawan,Paola Parrales,Justin Koesterich et al.
Darius Ramkhalawan et al.
Adolescent idiopathic scoliosis (AIS), the spontaneous development of a lateral spine curvature during puberty, is the most common pediatric spine disorder, affecting ∼3% of children worldwide. As the underlying etiology remains unclear, A...
Functional genomic analysis reveals HAVCR1 as the key regulator of 5q33.3 locus linked to hyperlipidemia [0.03%]
功能基因组分析揭示HAVCR1是与高脂血症相关的5q33.3位点的关键调控因子
Wei-Ting Chen,Chia-Ni Hsiung,Yuh-Shan Jou et al.
Wei-Ting Chen et al.
Hyperlipidemia is a major risk factor for atherosclerosis and other serious cardiovascular diseases, yet it often presents without obvious symptoms in the absence of comorbidities, complicating early detection and management. Given the high...
Positive selection on brain cis-regulatory elements in the human lineage drives gene expression divergence and susceptibility to neuropsychiatric disorders [0.03%]
积极选择作用于人脑顺式调控元件驱动基因表达分歧和神经系统疾病易感性
Youness Touissi,Eric J Vallender
Youness Touissi
Human brain evolution is hypothesized to be driven primarily by regulatory rather than protein-coding changes. Identifying evolutionary changes in regulatory elements, however, has been constrained by numbers and relationships of taxa and b...
Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta [0.03%]
早发性主动脉瓣二叶式畸形的罕见Ⅰ型胶原变异：与埃勒斯-丹洛斯综合征和成骨不全症的临床及遗传重叠现象
Sara Mansoorshahi,Catherina Tovar Pensa,Erin Carter et al.
Sara Mansoorshahi et al.
Bicuspid aortic valve (BAV) is the most common congenital heart lesion in adults and is often associated with thoracic aortic aneurysms and aortic stenosis. The genetic causes of most non-syndromic cases of BAV remain unknown. Pathogenic va...
Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA [0.03%]
PRKACA 内含子区段移码突变致全身性动静脉畸形综合征及软骨发育不全综合症
K Nicole Weaver,Jan W Broeckel,Kari Brown et al.
K Nicole Weaver et al.
Pathogenic missense variants in PRKACA cause craniofacial, skeletal, and cardiac defects similar to Ellis-van Creveld syndrome. We report an individual with a previously unreported, de novo 3 amino acid deletion in PRKACA, identified on tri...
An Efficient Lasso Framework for Admixture-Aware Polygenic Scores [0.03%]
一种高效的LASSO框架用于构建考虑祖先信息的多基因评分模型
Franklin Ockerman,Brian D Chen,Quan Sun et al.
Franklin Ockerman et al.
Polygenic scores (PGSs) have promising clinical applications for risk stratification, disease screening, and personalized medicine. However, most PGSs are trained on predominantly European ancestry cohorts and have limited portability to ex...
Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes [0.03%]
中东地区常染色体隐性疾病的杂合子携带者负担研究：对14,392个基因组的分析
Esther Nkrumah,Hajer Al-Mulla,Aryan Bashar et al.
Esther Nkrumah et al.
The American College of Medical Genetics and Genomics (ACMG) recommends Tier-3 reproductive carrier screening for 97 genes associated with autosomal recessive conditions (AR genes). Gene selection for screening is based on a gene carrier fr...
Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar desert [0.03%]
沙层中的印迹：迁徙、文化与印度河文明对塔尔沙漠的基因影响
Rishabh Jain,Sachin M Rathod,Pankaj Jha et al.
Rishabh Jain et al.
The Thar Desert of Northwestern India, despite its harsh ecology, has sustained settlement of ancient crafts and pastoral communities. Their persistence provides a unique opportunity to study how migration, ecology, and culture have shaped ...