文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

CMDS:一种基于人群的方法,用于从高分辨率数据中识别癌症中的复发性 DNA 拷贝数异常。

CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data.

机构信息

Division of Statistical Genomics, Washington University School of Medicine, St Louis, MO, USA.

出版信息

Bioinformatics. 2010 Feb 15;26(4):464-9. doi: 10.1093/bioinformatics/btp708. Epub 2009 Dec 23.


DOI:10.1093/bioinformatics/btp708
PMID:20031968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2852218/
Abstract

MOTIVATION: DNA copy number aberration (CNA) is a hallmark of genomic abnormality in tumor cells. Recurrent CNA (RCNA) occurs in multiple cancer samples across the same chromosomal region and has greater implication in tumorigenesis. Current commonly used methods for RCNA identification require CNA calling for individual samples before cross-sample analysis. This two-step strategy may result in a heavy computational burden, as well as a loss of the overall statistical power due to segmentation and discretization of individual sample's data. We propose a population-based approach for RCNA detection with no need of single-sample analysis, which is statistically powerful, computationally efficient and particularly suitable for high-resolution and large-population studies. RESULTS: Our approach, correlation matrix diagonal segmentation (CMDS), identifies RCNAs based on a between-chromosomal-site correlation analysis. Directly using the raw intensity ratio data from all samples and adopting a diagonal transformation strategy, CMDS substantially reduces computational burden and can obtain results very quickly from large datasets. Our simulation indicates that the statistical power of CMDS is higher than that of single-sample CNA calling based two-step approaches. We applied CMDS to two real datasets of lung cancer and brain cancer from Affymetrix and Illumina array platforms, respectively, and successfully identified known regions of CNA associated with EGFR, KRAS and other important oncogenes. CMDS provides a fast, powerful and easily implemented tool for the RCNA analysis of large-scale data from cancer genomes.

摘要

动机:DNA 拷贝数异常(CNA)是肿瘤细胞基因组异常的标志。在同一染色体区域的多个癌症样本中发生的反复 CNA(RCNA)在肿瘤发生中具有更大的意义。目前用于 RCNA 识别的常用方法需要在跨样本分析之前对单个样本进行 CNA 调用。这种两步策略可能会导致计算负担沉重,并且由于个体样本数据的分割和离散化,总体统计能力丧失。我们提出了一种基于群体的 RCNA 检测方法,无需进行单样本分析,该方法具有统计学上的强大性、计算效率高,特别适用于高分辨率和大群体研究。

结果:我们的方法,相关矩阵对角线分割(CMDS),基于染色体间位点的相关分析来识别 RCNAs。CMDS 直接使用所有样本的原始强度比数据,并采用对角线转换策略,大大降低了计算负担,并且可以从大型数据集快速获得结果。我们的模拟表明,CMDS 的统计功效高于基于两步法的单样本 CNA 调用。我们将 CMDS 应用于 Affymetrix 和 Illumina 阵列平台的两个肺癌和脑癌的真实数据集,成功识别了与 EGFR、KRAS 和其他重要癌基因相关的已知 CNA 区域。CMDS 为癌症基因组的大规模数据的 RCNA 分析提供了一种快速、强大且易于实现的工具。

相似文献

[1]
CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data.

Bioinformatics. 2009-12-23

[2]
CNAnova: a new approach for finding recurrent copy number abnormalities in cancer SNP microarray data.

Bioinformatics. 2010-4-18

[3]
Discovering Recurrent Copy Number Aberrations in Complex Patterns via Non-Negative Sparse Singular Value Decomposition.

IEEE/ACM Trans Comput Biol Bioinform. 2016

[4]
Genome-wide identification of significant aberrations in cancer genome.

BMC Genomics. 2012-7-27

[5]
TAFFYS: An Integrated Tool for Comprehensive Analysis of Genomic Aberrations in Tumor Samples.

PLoS One. 2015-6-25

[6]
Assessing the significance of conserved genomic aberrations using high resolution genomic microarrays.

PLoS Genet. 2007-8

[7]
A Bayesian segmentation approach to ascertain copy number variations at the population level.

Bioinformatics. 2009-7-1

[8]
Integrated analysis of DNA copy number and gene expression microarray data using gene sets.

BMC Bioinformatics. 2009-6-29

[9]
SNP microarray analyses reveal copy number alterations and progressive genome reorganization during tumor development in SVT/t driven mice breast cancer.

BMC Cancer. 2012-8-31

[10]
Integrated analysis of copy number alteration and RNA expression profiles of cancer using a high-resolution whole-genome oligonucleotide array.

Exp Mol Med. 2009-7-31

引用本文的文献

[1]
Shall genomic correlation structure be considered in copy number variants detection?

Brief Bioinform. 2021-11-5

[2]
SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads.

Front Genet. 2021-4-30

[3]
Statistical Considerations on NGS Data for Inferring Copy Number Variations.

Methods Mol Biol. 2021

[4]
EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.

Nucleic Acids Res. 2019-4-23

[5]
Copy Number Alterations in Tumor Genomes Deleting Antineoplastic Drug Targets Partially Compensated by Complementary Amplifications.

Cancer Genomics Proteomics. 2018

[6]
MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples.

Sci Rep. 2018-3-5

[7]
A Total-variation Constrained Permutation Model for Revealing Common Copy Number Patterns.

Sci Rep. 2017-8-29

[8]
SegCorr a statistical procedure for the detection of genomic regions of correlated expression.

BMC Bioinformatics. 2017-7-11

[9]
PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities.

BMC Bioinformatics. 2016-11-3

[10]
CRCDA--Comprehensive resources for cancer NGS data analysis.

Database (Oxford). 2015-10-8

本文引用的文献

[1]
Detection of recurrent copy number alterations in the genome: taking among-subject heterogeneity seriously.

BMC Bioinformatics. 2009-9-23

[2]
Ultrasome: efficient aberration caller for copy number studies of ultra-high resolution.

Bioinformatics. 2009-4-15

[3]
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.

Nucleic Acids Res. 2008-11

[4]
Integrated detection and population-genetic analysis of SNPs and copy number variation.

Nat Genet. 2008-10

[5]
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

Nature. 2008-10-23

[6]
Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma.

Proc Natl Acad Sci U S A. 2007-12-11

[7]
Characterizing the cancer genome in lung adenocarcinoma.

Nature. 2007-12-6

[8]
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

Genome Biol. 2007

[9]
Assessing the significance of conserved genomic aberrations using high resolution genomic microarrays.

PLoS Genet. 2007-8

[10]
Modeling recurrent DNA copy number alterations in array CGH data.

Bioinformatics. 2007-7-1

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索