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  4. CNVIntegrate: The first multi-ethnic database for identifying copy number variations associated with cancer
 
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CNVIntegrate: The first multi-ethnic database for identifying copy number variations associated with cancer

Journal
Database
Journal Volume
2021
Date Issued
2021
Author(s)
Amrita Chattopadhyay  
Teoh Z.H.
Wu C.-Y.
JYH-MING JIMMY JUANG  
Liang-Chuan Lai  
MONG-HSUN TSAI  
Wu C.-H.
TZU-PIN LU  
ERIC YAO-YU CHUANG  
DOI
10.1093/database/baab044
URI
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85111612916&doi=10.1093%2fdatabase%2fbaab044&partnerID=40&md5=23e5e6e6f0833ac2fe13d9ccb8d4f1c4
https://scholars.lib.ntu.edu.tw/handle/123456789/594630
Abstract
Human copy number variations (CNVs) and copy number alterations (CNAs) are DNA segments (>1000 base pairs) of duplications or deletions with respect to the reference genome, potentially causing genomic imbalance leading to diseases such as cancer. CNVs further cause genetic diversity in healthy populations and are predominant drivers of gene/genome evolution. Initiatives have been taken by the research community to establish large-scale databases to comprehensively characterize CNVs in humans. Exome Aggregation Consortium (ExAC) is one such endeavor that catalogs CNVs, of nearly 60 000 healthy individuals across five demographic clusters. Furthermore, large projects such as the Catalogue of Somatic Mutations in Cancer (COSMIC) and the Cancer Cell Line Encyclopedia (CCLE) combine CNA data from cancer-affected individuals and large panels of human cancer cell lines, respectively. However, we lack a structured and comprehensive CNV/CNA resource including both healthy individuals and cancer patients across large populations. CNVIntegrate is the first web-based system that hosts CNV and CNA data from both healthy populations and cancer patients, respectively, and concomitantly provides statistical comparisons between copy number frequencies of multiple ethnic populations. It further includes, for the first time, well-cataloged CNV and CNA data from Taiwanese healthy individuals and Taiwan Breast Cancer data, respectively, along with imported resources from ExAC, COSMIC and CCLE. CNVIntegrate offers a CNV/CNA-data hub for structured information retrieval for clinicians and scientists towards important drug discoveries and precision treatments. Database URL: http://cnvintegrate.cgm.ntu.edu.tw/ © 2021 The Author(s) 2021. Published by Oxford University Press.
SDGs

[SDGs]SDG3

Other Subjects
DNA; copy number variation; genetics; genomics; human; neoplasm; DNA; DNA Copy Number Variations; Genomics; Humans; Neoplasms
Publisher
Oxford University Press
Type
journal article

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開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

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