Explicitly modeling genetic ancestry to improve polygenic prediction accuracy for height in a large, admixed cohort of US Latinos: Findings from HCHS/SOL [0.03%]
在HCHS/SOL大型混血队列中显式建模遗传谱系以提高美国拉丁裔人群身高的多基因预测准确性：发现来自HCHS/SOL研究
Xin Wang,Tamar Sofer,Oleksandr Frei et al.
Xin Wang et al.
Polygenic scores (PGS) offer moderate to high prediction accuracy for complex traits, but most are developed in European ancestry cohorts, reducing their performance in populations of other ancestries. This study aimed to improve standing h...
Investigations on transferability of polygenic risk scores depending on demography and dominance coefficients [0.03%]
基于人口统计学和显性系数的多基因风险评分转移性研究
Leonie Fohler,Edita Latifi,Andreas Mayr et al.
Leonie Fohler et al.
The genetic liability to a complex phenotype can be assessed via polygenic risk scores (PRS) and is calculated as the sum of genotypes, weighted by effect size estimates derived from summary statistics of genome-wide association study (GWAS...
Deciphering the Genetic Underlying Causes of Sex Differences in Multiple Myeloma Incidence and Mortality [0.03%]
解析遗传因素导致多发性骨髓瘤发病率和死亡率性别差异的原因
Ajibola Opakunle,Yuting Shan,Yingbo Huang et al.
Ajibola Opakunle et al.
Multiple Myeloma (MM) is a genetically complex cancer that has a higher incidence and mortality in males when compared to females. These sex differences are well-documented epidemiologically, yet their biological mechanisms remain uncharact...
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder [0.03%]
自闭症患者中单等位基因和双等位基因KDM5A变异体的鉴定
Lauretta El Hayek,Ashlesha Gogate,Wei-Chen Chen et al.
Lauretta El Hayek et al.
Chromatin regulation is critical for neurodevelopment, and its disruption has emerged as a key pathogenic mechanism in neurodevelopmental disease, including autism spectrum disorder (ASD), a condition known for genetic and phenotypic hetero...
Sex-stratified genetic regulators of cytokine production in the Dutch and Tanzanian populations [0.03%]
荷兰和坦桑尼亚人群中按性别分层的细胞因子产生的遗传调节因素
Caroline Amour,Raul Cetatean,Isis Ricano Ponce et al.
Caroline Amour et al.
Differences in immune responses are observed between males and females, influenced by genetic, hormonal, and environmental factors. The sex-specific genetic effects on cytokine production however remain underexplored. This study aimed to id...
Breaking Barriers to Completing Genetic Testing for Inherited Breast Cancer among At-Risk Black Women Using a Community-Based Participatory Research Approach [0.03%]
基于社区参与式研究方法打破高危黑人女性完成遗传咨询和检测的壁垒
Sarah H Choi,Sanjana Ramesh,Shanequa Reed et al.
Sarah H Choi et al.
National guidelines from the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network recommend the use of family-health-history (FHH)-based risk assessment tools to guide genetic testing (GT) among women with an in...
Bayesian Mendelian Randomization methods for Index Trait Bias correction in subsequent trait genome-wide association studies [0.03%]
用于后续性状全基因组关联研究的索引性状偏差校正的孟德尔随机化方法
Nimish Adhikari,Kathryn L Lunetta,David Gagnon et al.
Nimish Adhikari et al.
Index-Trait bias (also called Index-Event Bias) can occur in genetic studies due to conditioning on incident trait, which can bias genetic associations with subsequent traits. We propose the use of two Bayesian Mendelian Randomization (MR) ...
Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasia [0.03%]
视黄酸受体-γ信号转导受损与一种尿路上皮角化鳞状移行的遗传形式有关
Kaya Fukushima,Nicole Avery,Jade Desjardins et al.
Kaya Fukushima et al.
Keratinising desquamative squamous metaplasia (KDSM) of the urinary tract is typically a sporadic condition with unclear aetiology and treatment options. It is characterised by either a focal or widespread transition of normal urothelium of...
Bi-allelic Variants in AP5Z1 and AP5B1 lead to retinal degeneration [0.03%]
AP5Z1和AP5B1双等位基因变异导致视网膜退行性疾病
Hafiz Muhammad Jafar Hussain,Meng Wang,Paul Yang et al.
Hafiz Muhammad Jafar Hussain et al.
Inherited retinal diseases (IRDs) comprise a diverse group of disorders that frequently lead to progressive vision impairment and blindness. Despite advances in genetic testing, a significant number of IRD cases remain genetically unsolved,...
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder [0.03%]
ASAH2缺乏影响鞘脂稳态和神经运动控制，导致进行性神经障碍
Marcello Scala,Ranjan K Sahu,Mariasavina Severino et al.
Marcello Scala et al.
Sphingolipids are integral components of cell membranes and modulate cell survival, proliferation, and apoptosis. ASAH2 is a brain- and gut-enriched gene encoding the neutral N-acylsphingosine amidohydrolase 2, a poorly characterized member...