S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations [0.03%]
S4-多：增强祖先多样化人群的多基因评分预测能力
John Baierl,Jonathan P Tyrer,Ping-Hung Lai et al.
John Baierl et al.
Polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common genetic variants to assess inherited disease risk. However, their predictive accuracy remains limited in non-European pop...
A non-coding ABO regulatory variant associated with VWF levels, thrombosis and COVID-19 severity is topologically linked to ADAMTS13 in endothelial cells [0.03%]
与VWF水平、血栓和COVID-19严重程度相关且在内皮细胞中与ADAMTS13拓扑相关的非编码ABO调节变异
Douglas Victorino Esposito,Hellen Ferreira de Souza Sobrinho,Marcelo Rocha Marques
Douglas Victorino Esposito
Venous thromboembolism (VTE) is a major cause of mortality, influenced by genetic and environmental factors. Von Willebrand Factor (VWF) mediates hemostasis by promoting platelet adhesion, and its plasma levels are associated with thromboti...
How and for whom can genetics education reduce beliefs in genetic essentialism? [0.03%]
遗传学教育如何以及对哪些人能够减少基因决定论信念？
Robbee Wedow,Yeongmi Jeong,Katherine N Thompson et al.
Robbee Wedow et al.
Despite advancements in genomics, misconceptions about the extent to which genetics contributes to observable differences across racial groups persist. These misconceptions are often rooted in genetic essentialism, a social-cognitive bias t...
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis [0.03%]
产前染色体微阵列分析中同源性区域的临床意义分析
Ying Hao,Qian Geng,Xingping Li et al.
Ying Hao et al.
Chromosomal microarray analysis (CMA) detects pathogenic copy number variants (pCNVs) and regions of homozygosity (ROHs) in prenatal genetic analysis. This study evaluates the clinical significance of ROH detection in prenatal settings. We ...
Quanting Yin,Xiaoyu Yang,Siying Ju et al.
Quanting Yin et al.
Morphine is a potent analgesic and exhibits significant efficacy in alleviating severe pain. However, prolonged use can lead to drug dependency. Moreover, there are individual variations in response to and tolerance of morphine, indicating ...
The impact of Indigenous American-like ancestry on the risk of acute lymphoblastic leukemia in Hispanic/Latino children [0.03%]
美洲原住民_like祖先对西班牙裔/拉丁裔儿童急性淋巴细胞白血病风险的影响
Jalen Langie,Tsz Fung Chan,Wenjian Yang et al.
Jalen Langie et al.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, with Hispanic/Latino children having a higher incidence of ALL than other racial/ethnic groups. Among the genetic variants previously implicated in ALL risk, a number o...
Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies [0.03%]
无偏倚的人类基因组学表征聚谷氨酰胺疾病基因以指导生物学认识和治疗策略
Kevin Lucy Namuli,Britt I Drögemöller,Galen E B Wright
Kevin Lucy Namuli
Polyglutamine (polyQ) disorders, such as Huntington disease (HD) and several spinocerebellar ataxias, are severe neurological disorders caused by glutamine codon repeat expansions. These conditions lack effective treatments, with therapeuti...
Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees [0.03%]
高风险家系中死产的遗传易感性：共享基因片段分析结果
Tsegaselassie Workalemahu,Michael J Madsen,Sarah Lopez et al.
Tsegaselassie Workalemahu et al.
Stillbirth is a devastating adverse pregnancy outcome affecting 2 million pregnancies worldwide. Though an etiology may be found in some stillbirths, one-third remain unexplained. Stillbirth clusters in families and few underlying inherited...
Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722-16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia [0.03%]
SLC10A7 c.722-16A>G/c.472-1G>T等位基因的正常剪接转录本意外高水平表达并参与常染色体隐性骨骼发育不全表型发病机制
Xing-Chen Zhao,Zhen-Cong Zhang,Wen-Lin Ye et al.
Xing-Chen Zhao et al.
Biallelic loss-of-function (LoF) variants in SLC10A7 cause short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS). Here, we report findings from an individual of Chinese ancestry with SSASKS carrying compound...
A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China [0.03%]
中国罕见病国家生物样本库框架：标准化基础设施和跨机构合作加速转化创新在中国
Weida Liu,Ye Jin,Yaran Zhang et al.
Weida Liu et al.
Rare diseases (RDs) collectively affect >400 million people worldwide, but fragmented infrastructure and biospecimen scarcity impede progress. China's heterogeneous healthcare landscape magnifies these challenges. Since 2016, the ISO 20387:...