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SC2disease:一个人类疾病单细胞转录组的手动整理数据库。

SC2disease: a manually curated database of single-cell transcriptome for human diseases.

机构信息

School of Computer Science, Northwestern Polytechnical University, Xi'an 710072, China.

Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.

出版信息

Nucleic Acids Res. 2021 Jan 8;49(D1):D1413-D1419. doi: 10.1093/nar/gkaa838.

Abstract

SC2disease (http://easybioai.com/sc2disease/) is a manually curated database that aims to provide a comprehensive and accurate resource of gene expression profiles in various cell types for different diseases. With the development of single-cell RNA sequencing (scRNA-seq) technologies, uncovering cellular heterogeneity of different tissues for different diseases has become feasible by profiling transcriptomes across cell types at the cellular level. In particular, comparing gene expression profiles between different cell types and identifying cell-type-specific genes in various diseases offers new possibilities to address biological and medical questions. However, systematic, hierarchical and vast databases of gene expression profiles in human diseases at the cellular level are lacking. Thus, we reviewed the literature prior to March 2020 for studies which used scRNA-seq to study diseases with human samples, and developed the SC2disease database to summarize all the data by different diseases, tissues and cell types. SC2disease documents 946 481 entries, corresponding to 341 cell types, 29 tissues and 25 diseases. Each entry in the SC2disease database contains comparisons of differentially expressed genes between different cell types, tissues and disease-related health status. Furthermore, we reanalyzed gene expression matrix by unified pipeline to improve the comparability between different studies. For each disease, we also compare cell-type-specific genes with the corresponding genes of lead single nucleotide polymorphisms (SNPs) identified in genome-wide association studies (GWAS) to implicate cell type specificity of the traits.

摘要

SC2disease(http://easybioai.com/sc2disease/)是一个人工 curated 的数据库,旨在为各种疾病的不同细胞类型提供全面、准确的基因表达谱资源。随着单细胞 RNA 测序(scRNA-seq)技术的发展,通过在细胞水平上对跨细胞类型的转录组进行分析,揭示不同组织中不同疾病的细胞异质性成为可能。特别是,比较不同细胞类型之间的基因表达谱,并鉴定各种疾病中特定于细胞类型的基因,为解决生物学和医学问题提供了新的可能性。然而,在细胞水平上,缺乏系统的、分层的和庞大的人类疾病基因表达谱数据库。因此,我们在 2020 年 3 月之前对使用 scRNA-seq 研究人类样本疾病的文献进行了综述,并开发了 SC2disease 数据库,按不同疾病、组织和细胞类型对所有数据进行总结。SC2disease 数据库包含 946481 条记录,对应 341 种细胞类型、29 种组织和 25 种疾病。SC2disease 数据库中的每个条目都包含不同细胞类型、组织和与疾病相关的健康状态之间差异表达基因的比较。此外,我们还通过统一的管道重新分析了基因表达矩阵,以提高不同研究之间的可比性。对于每种疾病,我们还将细胞类型特异性基因与全基因组关联研究(GWAS)中鉴定的相应基因 lead SNP 进行比较,以说明该性状的细胞类型特异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb56/7778914/1ecbe1b4bd9e/gkaa838fig1.jpg

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