Fetal fractions mediate the association between total cell-free DNA and preeclampsia risk in a non-invasive prenatal testing cohort [0.03%]
胎儿游离DNA比例介导了总cffDNA与子痫前期发病风险之间的关联（出自无创产前筛查队列）
Bin Zhang,Xusheng Chen,Sijie Xi et al.
Bin Zhang et al.
Background: Non-invasive prenatal testing (NIPT)-derived total cell-free DNA (cfDNA) and fetal fractions (FFs) are potential indicators of placental dysfunction, a hallmark of preeclampsia (PE). However, their clinical ut...
Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions [0.03%]
POLD1 Ser605del变异在MDPL综合征中的结构和功能影响：来自蛋白质-蛋白质相互作用的见解
Michela Murdocca,Isabella Romeo,Serena Maccaroni et al.
Michela Murdocca et al.
Background: Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a very rare genetic disorder linked to variants in the POLD1 gene, which encodes the catalytic subunit of DNA polymeras...
Correction: Carrying APOL1 G1 allele is associated with cardiovascular complications during COVID-19 in an admixed population [0.03%]
订正：在admixed人群中携带APOL1 G1等位基因与COVID-19期间的心血管并发症有关
Nathan A Cadore,Bibiana S de O Fam,Giovanna C Giudicelli et al.
Nathan A Cadore et al.
Published Erratum
Human genomics. 2025 Nov 6;19(1):130. DOI:10.1186/s40246-025-00846-2 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia [0.03%]
急性髓系白血病中共有体细胞变异引起的拼接干扰的现象
Mireya Morote-Faubel,María Guaita-Céspedes,Beatriz Fernández-Blanco et al.
Mireya Morote-Faubel et al.
Acute Myeloid Leukemia (AML) is a genetically and clonally heterogeneous blood malignancy characterized by somatic gene mutations influencing disease biology. Despite advances in genomic analyses, splicing alterations associated with AML mu...
Evaluating knowledge enhancement and attitudinal shift among physicians participating in capacity building workshops on expanded premarital screening in the United Arab Emirates: a cross-sectional study [0.03%]
阿拉伯联合酋长国扩展婚前筛查能力提升工作坊对医务人员知识增进及态度转变的评价：横断面研究
Azhar T Rahma,Mushal Allam,Hajra Amoodi et al.
Azhar T Rahma et al.
Background: Premarital screening is a preventive public health measure to identify genetic, infectious, and chronic conditions affecting the health of couples and their future offspring. It plays a crucial role in reducin...
Genetic insights of waist-to-height ratio on the risk of steatotic and advanced liver diseases: genome-wide association study and polygenic risk score-based analyses [0.03%]
腰高比的遗传学见解对肝脂肪变性和晚期肝病风险的影响：基于全基因组关联研究和多基因评分分析的新发现
Haotian Chen,Zhengye Liu,Hanze Du et al.
Haotian Chen et al.
Background: The waist-to-height ratio (WHtR) is a simple and effective indicator to measure central obesity. However, the genetic basis and clinical implications of WHtR in relation to steatotic and advanced liver disease...
Deletions in (CCCT)n repeat regions belonging to the human pRNA gene inhibit its expression [0.03%]
人类pRNA基因中（CCCT）n重复区域的缺失抑制其表达
Nikola Chmúrčiaková,Adam Nógell,Evgeny Smirnov et al.
Nikola Chmúrčiaková et al.
Background: Ribosomal DNA (rDNA), the most abundantly expressed locus in the human genome, is represented by hundreds of units per cell. Each unit includes a 13 kb long region (47S rDNA) containing the genes of ribosomal ...
Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning [0.03%]
基于大规模基因组数据和机器学习的遗传和地理祖先预测整合模型
Jing Chen,Yuguo Huang,Haoliang Fan et al.
Jing Chen et al.
Understanding fine-scale genetic and geographic ancestry in East and Southeast Asia is difficult due to complex population histories and limited high-resolution genomic data. Here, we introduce a comprehensive framework that combines ancest...
Genetic polymorphisms associated with metabolic dysfunction-associated steatotic liver disease and cardiometabolic risk susceptibility in the Chinese Han population [0.03%]
与中国汉族人群代谢功能异常相关肝病和心血管元凶性疾病易感性相关的基因多态性分析
Mingjia Dai,Yan Li,Jing Zhang et al.
Mingjia Dai et al.
Background: Genetic insights into metabolic dysfunction-associated steatotic liver disease (MASLD) and its cardiometabolic subphenotypes in Asian populations remain limited. This study aimed to investigate the genetic pol...
MX1 is a novel crucial prognostic and therapeutic target inducing chemoresistance in right-sided colon cancer: insights from machine learning-based multi-omics analysis [0.03%]
基于机器学习的多组学分析揭示了MX1是右半结肠癌中一个关键的预后和治疗靶点：诱导化疗耐药性
Yingdong Hou,Hubin Xia,Chenghao Ji et al.
Yingdong Hou et al.
Background: Recent studies have increasingly emphasized the poorer survival outcomes and reduced treatment responses associated with right-sided colon cancer (RCC). However, the underlying molecular mechanisms remain poor...