Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

被引:2881
作者
Aryee, Martin J. [1 ,2 ]
Jaffe, Andrew E. [3 ,4 ]
Corrada-Bravo, Hector [5 ]
Ladd-Acosta, Christine [6 ]
Feinberg, Andrew P. [3 ,7 ,8 ]
Hansen, Kasper D. [3 ,9 ]
Irizarry, Rafael A. [3 ]
机构
[1] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[2] Harvard Univ, Sch Med, Boston, MA 02114 USA
[3] Johns Hopkins Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA
[4] Lieber Inst Brain Dev, Baltimore, MD 21205 USA
[5] Univ Maryland, Dept Comp Sci, College Pk, MD 20742 USA
[6] Johns Hopkins Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA
[7] Johns Hopkins Univ, Sch Med, Ctr Epigenet, Baltimore, MD 21205 USA
[8] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA
[9] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21205 USA
关键词
QUANTILE NORMALIZATION; CANCER EPIGENETICS; SUBSET-QUANTILE; ARRAY DATA; IDENTIFICATION; BIAS;
D O I
10.1093/bioinformatics/btu049
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Motivation: The recently released Infinium HumanMethylation450 array (the '450k' array) provides a high-throughput assay to quantify DNA methylation (DNAm) at similar to 450000 loci across a range of genomic features. Although less comprehensive than high-throughput sequencing-based techniques, this product is more cost-effective and promises to be the most widely used DNAm high-throughput measurement technology over the next several years. Results: Here we describe a suite of computational tools that incorporate state-of-the-art statistical techniques for the analysis of DNAm data. The software is structured to easily adapt to future versions of the technology. We include methods for preprocessing, quality assessment and detection of differentially methylated regions from the kilobase to the megabase scale. We show how our software provides a powerful and flexible development platform for future methods. We also illustrate how our methods empower the technology to make discoveries previously thought to be possible only with sequencing-based methods.
引用
收藏
页码:1363 / 1369
页数:7
相关论文
共 35 条
[1]   Accurate genome-scale percentage DNA methylation estimates from microarray data [J].
Aryee, Martin J. ;
Wu, Zhijin ;
Ladd-Acosta, Christine ;
Herb, Brian ;
Feinberg, Andrew P. ;
Yegnasubramanian, Srinivasan ;
Irizarry, Rafael A. .
BIOSTATISTICS, 2011, 12 (02) :197-210
[2]   Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina-associated domains [J].
Berman, Benjamin P. ;
Weisenberger, Daniel J. ;
Aman, Joseph F. ;
Hinoue, Toshinori ;
Ramjan, Zachary ;
Liu, Yaping ;
Noushmehr, Houtan ;
Lange, Christopher P. E. ;
van Dijk, Cornelis M. ;
Tollenaar, Rob A. E. M. ;
Van den Berg, David ;
Laird, Peter W. .
NATURE GENETICS, 2012, 44 (01) :40-U62
[3]   High density DNA methylation array with single CpG site resolution [J].
Bibikova, Marina ;
Barnes, Bret ;
Tsan, Chan ;
Ho, Vincent ;
Klotzle, Brandy ;
Le, Jennie M. ;
Delano, David ;
Zhang, Lu ;
Schroth, Gary P. ;
Gunderson, Kevin L. ;
Fan, Jian-Bing ;
Shen, Richard .
GENOMICS, 2011, 98 (04) :288-295
[4]   A comparison of normalization methods for high density oligonucleotide array data based on variance and bias [J].
Bolstad, BM ;
Irizarry, RA ;
Åstrand, M ;
Speed, TP .
BIOINFORMATICS, 2003, 19 (02) :185-193
[5]  
Chambers J.M., 1998, Programming with data: a guide to the S language
[6]   Cancer Epigenetics: From Mechanism to Therapy [J].
Dawson, Mark A. ;
Kouzarides, Tony .
CELL, 2012, 150 (01) :12-27
[7]  
Dedeurwaerder S., 2013, BRIEF BIOINFORM
[8]   Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts [J].
Doi, Akiko ;
Park, In-Hyun ;
Wen, Bo ;
Murakami, Peter ;
Aryee, Martin J. ;
Irizarry, Rafael ;
Herb, Brian ;
Ladd-Acosta, Christine ;
Rho, Junsung ;
Loewer, Sabine ;
Miller, Justine ;
Schlaeger, Thorsten ;
Daley, George Q. ;
Feinberg, Andrew P. .
NATURE GENETICS, 2009, 41 (12) :1350-U123
[9]   Phenotypic plasticity and the epigenetics of human disease [J].
Feinberg, Andrew P. .
NATURE, 2007, 447 (7143) :433-440
[10]   Timeline - The history of cancer epigenetics [J].
Feinberg, AP ;
Tycko, B .
NATURE REVIEWS CANCER, 2004, 4 (02) :143-153