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Metabolic dysfunction associated kidney disease GWAS and gsMAP

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NIAID Data Ecosystem2026-05-10 收录
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https://figshare.com/articles/dataset/Metabolic_dysfunction_associated_kidney_disease_GWAS_and_gsMAP/31333294
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Header Explanations:SNP: Single Nucleotide Polymorphism identifier (e.g., rsID).CHR: Chromosome number where the SNP is located.BP: Base pair position of the SNP on the chromosome.MAF: Minor Allele Frequency (frequency of the less common allele, 0–0.5).A2: Other allele (reference/non-effect allele).A1: Effect allele (allele for which the effect size is estimated).i: Index/iteration number (e.g., model or subgroup identifier).lhs: Left-hand side of the SEM equation (dependent variable, e.g., trait/factor).op: SEM operator (e.g., ~ = regression, =~ = latent measurement).rhs: Right-hand side of the SEM equation (independent variable, e.g., SNP).est: Regression coefficient estimate (effect size of SNP on lhs).se_c: Standard error of the coefficient estimate (est).Z_Estimate: Z-score for the estimate (est / se_c).Pval_Estimate: P-value for the estimate (significance of est).Q: Cochran’s Q statistic (measures heterogeneity of effects across subgroups/studies).Q_df: Degrees of freedom for the Q statistic.Q_pval: P-value for Cochran’s Q (significance of heterogeneity; <0.05 indicates significant heterogeneity).N_hat: Estimated effective sample size (total or weighted sample size used in analysis). This folder contains gsMap output for the traits Atrial Fibrillation and Sick Sinus Syndrome on the MOSTA E16.5_E1S1 spatial transcriptomics sample. For each trait, there are three visualization subfolders: gsMap_plot/ (spatial maps showing where the trait-associated signal is enriched across the tissue section), GSS_plot/ (plots of Gene Specificity Score, GSS, illustrating where candidate genes are specifically expressed in space), and manhattan_plot/ (GWAS-style Manhattan/diagnostic plots summarizing genomic association signals). In addition, E16.5_E1S1.MOSTA_*_Gene_Diagnostic_Info.csv provides a gene-level diagnostic table (e.g., genes with their spatial annotation, summary GSS metrics such as median GSS, and correlation-style indicators linking spatial specificity to GWAS signal), while E16.5_E1S1.MOSTA_*_gsMap_Report.html is an integrated HTML report that brings together the key figures and summaries for quick interpretation and result review.

### 表头说明: SNP:单核苷酸多态性(Single Nucleotide Polymorphism)标识符,例如rsID。 CHR:该SNP所在的染色体编号。 BP:该SNP在染色体上的碱基对位置。 MAF:次要等位基因频率(Minor Allele Frequency,即低频等位基因的频率,取值范围为0~0.5)。 A2:其他等位基因(参考/非效应等位基因)。 A1:效应等位基因(用于估算效应量的等位基因)。 i:索引/迭代编号,例如模型或亚组标识符。 lhs:结构方程模型(Structural Equation Model, SEM)方程左侧,即因变量,例如性状/因子。 op:SEM运算符,例如~代表回归关系,=~代表潜在测量关系。 rhs:SEM方程右侧,即自变量,例如SNP。 est:回归系数估计值,即SNP对lhs的效应量。 se_c:系数估计值的标准误,即est的标准误。 Z_Estimate:估计值的Z分数,计算公式为est / se_c。 Pval_Estimate:估计值的P值,用于检验est的统计学显著性。 Q:科克伦Q统计量,用于衡量亚组或研究间效应的异质性。 Q_df:Q统计量对应的自由度。 Q_pval:科克伦Q检验的P值,用于检验异质性的显著性;当P<0.05时,表示存在显著异质性。 N_hat:估算的有效样本量,即分析中使用的总样本量或加权样本量。 本文件夹包含针对心房颤动(Atrial Fibrillation)与病窦综合征(Sick Sinus Syndrome)两个性状,在MOSTA E16.5_E1S1空间转录组样本上的gsMap分析输出结果。 针对每个性状,均设有三个可视化子文件夹: 1. gsMap_plot/:空间分布图,用于展示性状关联信号在组织切片中的富集区域; 2. GSS_plot/:基因特异性得分(Gene Specificity Score, GSS)可视化图,用于展示候选基因的空间特异性表达区域; 3. manhattan_plot/:全基因组关联研究(Genome-Wide Association Study, GWAS)风格的曼哈顿图/诊断图,用于汇总基因组关联信号。 此外,文件E16.5_E1S1.MOSTA_*_Gene_Diagnostic_Info.csv为基因水平诊断表,其中包含基因的空间注释信息、GSS汇总指标(如GSS中位数)以及连接空间特异性与GWAS信号的相关性类指标;文件E16.5_E1S1.MOSTA_*_gsMap_Report.html为集成化HTML报告,整合了关键图表与汇总结果,便于快速解读与结果复核。
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2026-02-13
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