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dbPEC:一个基于文献的子痫前期相关基因和表型综合数据库。

dbPEC: a comprehensive literature-based database for preeclampsia related genes and phenotypes.

作者信息

Uzun Alper, Triche Elizabeth W, Schuster Jessica, Dewan Andrew T, Padbury James F

机构信息

Department of Pediatrics, Women & Infants Hospital of Rhode Island, Providence, RI, USA Department of Pediatrics, Brown Alpert Medical School, Providence, RI, USA

The Mandell Center for Multiple Sclerosis, Mount Sinai Rehabilitation Hospital, Hartford, CT, USA.

出版信息

Database (Oxford). 2016 Mar 5;2016. doi: 10.1093/database/baw006. Print 2016.

DOI:10.1093/database/baw006
PMID:26946289
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4779341/
Abstract

Preeclampsia is one of the most common causes of fetal and maternal morbidity and mortality in the world. We built a Database for Preeclampsia (dbPEC) consisting of the clinical features, concurrent conditions, published literature and genes associated with Preeclampsia. We included gene sets associated with severity, concurrent conditions, tissue sources and networks. The published scientific literature is the primary repository for all information documenting human disease. We used semantic data mining to retrieve and extract the articles pertaining to preeclampsia-associated genes and performed manual curation. We deposited the articles, genes, preeclampsia phenotypes and other supporting information into the dbPEC. It is publicly available and freely accessible. Previously, we developed a database for preterm birth (dbPTB) using a similar approach. Using the gene sets in dbPTB, we were able to successfully analyze a genome-wide study of preterm birth including 4000 women and children. We identified important genes and pathways associated with preterm birth that were not otherwise demonstrable using genome-wide approaches. dbPEC serves not only as a resources for genes and articles associated with preeclampsia, it is a robust source of gene sets to analyze a wide range of high-throughput data for gene set enrichment analysis. Database URL: http://ptbdb.cs.brown.edu/dbpec/.

摘要

子痫前期是全球胎儿和孕产妇发病及死亡的最常见原因之一。我们构建了一个子痫前期数据库(dbPEC),其中包含子痫前期的临床特征、并发疾病、已发表文献以及相关基因。我们纳入了与严重程度、并发疾病、组织来源和网络相关的基因集。已发表的科学文献是记录人类疾病的所有信息的主要存储库。我们使用语义数据挖掘来检索和提取与子痫前期相关基因有关的文章,并进行人工整理。我们将文章、基因、子痫前期表型及其他支持信息存入dbPEC。该数据库可供公众使用且免费访问。此前,我们采用类似方法开发了一个早产数据库(dbPTB)。利用dbPTB中的基因集,我们成功分析了一项涵盖4000名妇女和儿童的早产全基因组研究。我们确定了与早产相关的重要基因和通路,而这些用全基因组方法无法得到证实。dbPEC不仅是与子痫前期相关的基因和文章的资源库,也是用于分析广泛的高通量数据以进行基因集富集分析的强大基因集来源。数据库网址:http://ptbdb.cs.brown.edu/dbpec/

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d79c/4779341/0a5c22a2a796/baw006f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d79c/4779341/0a5c22a2a796/baw006f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d79c/4779341/0a5c22a2a796/baw006f1p.jpg

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本文引用的文献

1
Bioinformatic approach to the genetics of preeclampsia.生物信息学方法在子痫前期遗传学中的应用。
Obstet Gynecol. 2014 Jun;123(6):1155-1161. doi: 10.1097/AOG.0000000000000293.
2
Pathway-based genetic analysis of preterm birth.基于通路的早产遗传分析。
Genomics. 2013 Mar;101(3):163-70. doi: 10.1016/j.ygeno.2012.12.005. Epub 2013 Jan 6.
3
PESNPdb: a comprehensive database of SNPs studied in association with pre-eclampsia.PESNPdb:一个综合数据库,研究了与子痫前期相关的单核苷酸多态性。
使用控制理论方法识别子痫前期相关基因。
Brief Funct Genomics. 2022 Jul 27;21(4):296-309. doi: 10.1093/bfgp/elac006.
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Early prediction of preeclampsia in pregnancy with cell-free RNA.用游离细胞 RNA 对妊娠子痫前期进行早期预测。
Nature. 2022 Feb;602(7898):689-694. doi: 10.1038/s41586-022-04410-z. Epub 2022 Feb 9.
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Machine learning approach to literature mining for the genetics of complex diseases.基于机器学习的复杂疾病遗传学文献挖掘方法。
Database (Oxford). 2019 Jan 1;2019. doi: 10.1093/database/baz124.
Placenta. 2012 Dec;33(12):1055-7. doi: 10.1016/j.placenta.2012.09.016. Epub 2012 Oct 18.
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dbPTB: a database for preterm birth.dbPTB:早产儿数据库。
Database (Oxford). 2012 Feb 8;2012:bar069. doi: 10.1093/database/bar069. Print 2012.
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Pathogenesis of preeclampsia: the genetic component.子痫前期的发病机制:遗传因素
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Genetic factors in common obstetric disorders.常见产科疾病中的遗传因素。
Clin Obstet Gynecol. 2008 Mar;51(1):74-83. doi: 10.1097/GRF.0b013e3181616545.
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The HGNC Database in 2008: a resource for the human genome.2008年的HGNC数据库:人类基因组资源
Nucleic Acids Res. 2008 Jan;36(Database issue):D445-8. doi: 10.1093/nar/gkm881. Epub 2007 Nov 4.
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Searching for genetic clues to the causes of pre-eclampsia.寻找先兆子痫病因的基因线索。
Clin Sci (Lond). 2006 Apr;110(4):443-58. doi: 10.1042/CS20050323.
9
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.基因集富集分析:一种基于知识的方法用于解读全基因组表达谱。
Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50. doi: 10.1073/pnas.0506580102. Epub 2005 Sep 30.
10
Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study.母胎遗传因素是子痫前期家族聚集性的主要原因:一项基于瑞典人群的队列研究
Am J Med Genet A. 2004 Nov 1;130A(4):365-71. doi: 10.1002/ajmg.a.30257.