Literature DB >> 22826268

CNVD: text mining-based copy number variation in disease database.

Fujun Qiu1, Yan Xu, Kening Li, Zihui Li, Yufeng Liu, Huizi DuanMu, Shanzhen Zhang, Zhenqi Li, Zhiqiang Chang, Yuanshuai Zhou, Rui Zhang, Shujuan Zhang, Chunquan Li, Yan Zhang, Minzhai Liu, Xia Li.   

Abstract

Copy number variation (CNV) is a kind of chromosomal structural reorganization that has been detected, in this decade, mainly by high-throughput biological technology. Researchers have found that CNVs are ubiquitous in many species and accumulating evidence indicates that CNVs are closely related with complex diseases. The investigation of chromosomal structural alterations has begun to reveal some important clues to the pathologic causes of diseases and to the disease process. However, many of the published studies have focused on a single disease and, so far, the experimental results have not been systematically collected or organized. Manual text mining from 6301 published papers was used to build the Copy Number Variation in Disease database (CNVD). CNVD contains CNV information for 792 diseases in 22 species from diverse types of experiments, thus, ensuring high confidence and comprehensive representation of the relationship between the CNVs and the diseases. In addition, multiple query modes and visualized results are provided in the CNVD database. With its user-friendly interface and the integrated CNV information for different diseases, CNVD will offer a truly comprehensive platform for disease research based on chromosomal structural variations. The CNVD interface is accessible at http://bioinfo.hrbmu.edu.cn/CNVD.
© 2012 Wiley Periodicals, Inc.

Mesh:

Year:  2012        PMID: 22826268     DOI: 10.1002/humu.22163

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  14 in total

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Journal:  Am J Hum Genet       Date:  2018-08-16       Impact factor: 11.025

2.  Creation of targeted genomic deletions using TALEN or CRISPR/Cas nuclease pairs in one-cell mouse embryos.

Authors:  Christina Brandl; Oskar Ortiz; Bernhard Röttig; Benedikt Wefers; Wolfgang Wurst; Ralf Kühn
Journal:  FEBS Open Bio       Date:  2014-12-03       Impact factor: 2.693

3.  3D genome of multiple myeloma reveals spatial genome disorganization associated with copy number variations.

Authors:  Pengze Wu; Tingting Li; Ruifeng Li; Lumeng Jia; Ping Zhu; Yifang Liu; Qing Chen; Daiwei Tang; Yuezhou Yu; Cheng Li
Journal:  Nat Commun       Date:  2017-12-05       Impact factor: 14.919

Review 4.  The Genomics of Neonatal Abstinence Syndrome.

Authors:  F Sessions Cole; Daniel J Wegner; Jonathan M Davis
Journal:  Front Pediatr       Date:  2017-08-22       Impact factor: 3.418

5.  WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

Authors:  Roy Straver; Marjan M Weiss; Quinten Waisfisz; Erik A Sistermans; Marcel J T Reinders
Journal:  Eur J Hum Genet       Date:  2017-11-08       Impact factor: 4.246

6.  Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Authors:  John Y W Lee; Chao-Kai Hsu; Magdalene Michael; Arti Nanda; Lu Liu; James R McMillan; Celine Pourreyron; Takuya Takeichi; Jakub Tolar; Evan Reid; Thomas Hayday; Sergiu C Blumen; Saif Abu-Mouch; Rachel Straussberg; Lina Basel-Vanagaite; Yael Barhum; Yasmin Zouabi; Hejab Al-Ajmi; Hsin-Yu Huang; Ting-Chien Lin; Masashi Akiyama; Julia Y Y Lee; W H Irwin McLean; Michael A Simpson; Maddy Parsons; John A McGrath
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

7.  A Novel Computational Framework to Predict Disease-Related Copy Number Variations by Integrating Multiple Data Sources.

Authors:  Lin Yuan; Tao Sun; Jing Zhao; Zhen Shen
Journal:  Front Genet       Date:  2021-06-29       Impact factor: 4.599

8.  CNVannotator: a comprehensive annotation server for copy number variation in the human genome.

Authors:  Min Zhao; Zhongming Zhao
Journal:  PLoS One       Date:  2013-11-14       Impact factor: 3.240

9.  An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.

Authors:  Mei-Chu Huang; Tzu-Po Chuang; Chien-Hsiun Chen; Jer-Yuarn Wu; Yuan-Tsong Chen; Ling-Hui Li; Hsin-Chou Yang
Journal:  BMC Genomics       Date:  2016-03-31       Impact factor: 3.969

10.  rVarBase: an updated database for regulatory features of human variants.

Authors:  Liyuan Guo; Yang Du; Susu Qu; Jing Wang
Journal:  Nucleic Acids Res       Date:  2015-10-25       Impact factor: 16.971

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