Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

被引:155
作者
Popova, Tatiana [1 ,2 ]
Manie, Elodie [1 ,2 ]
Stoppa-Lyonnet, Dominique [1 ,2 ,3 ,4 ]
Rigaill, Guillem [5 ,6 ]
Barillot, Emmanuel [1 ,7 ,8 ]
Stern, Marc Henri [1 ,2 ]
机构
[1] Inst Curie, Ctr Rech, F-75248 Paris, France
[2] Inst Curie, INSERM, U830, F-75248 Paris, France
[3] Inst Curie, Dept Tumor Biol, F-75248 Paris, France
[4] Univ Paris 05, F-75270 Paris, France
[5] Inst Curie, Translat Res Dept, F-75475 Paris, France
[6] AgroParisTech INRA, MIA 518, F-75231 Paris, France
[7] Inst Curie, INSERM, U900, F-75248 Paris, France
[8] Ecole Mines ParisTech, F-77305 Fontainebleau, France
来源
GENOME BIOLOGY | 2009年 / 10卷 / 11期
关键词
NUCLEOTIDE POLYMORPHISM ARRAY; BASAL-LIKE CARCINOMAS; HIDDEN MARKOV MODEL; BREAST-CANCER; CGH DATA; TUMOR SAMPLES; COPY-NUMBERS; BRCA1; ABERRATIONS; HETEROZYGOSITY;
D O I
10.1186/gb-2009-10-11-r128
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
We describe a method for automatic detection of absolute segmental copy numbers and genotype status in complex cancer genome profiles measured with single-nucleotide polymorphism (SNP) arrays. The method is based on pattern recognition of segmented and smoothed copy number and allelic imbalance profiles. Assignments were verified by DNA indexes of primary tumors and karyotypes of cell lines. The method performs well even for poor-quality data, low tumor content, and highly rearranged tumor genomes.
引用
收藏
页数:14
相关论文
共 38 条
[1]   Chromosome aberrations in solid tumors [J].
Albertson, DG ;
Collins, C ;
McCormick, F ;
Gray, JW .
NATURE GENETICS, 2003, 34 (04) :369-376
[2]  
[Anonymous], GENE EXPRESSION OMNI
[3]   SNP Arrays in heterogeneous tissue:: Highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples [J].
Assie, Guillaume ;
LaFramboise, Thomas ;
Platzer, Petra ;
Bertherat, Jerome ;
Stratakis, Constantine A. ;
Eng, Charis .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :903-915
[4]   Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy [J].
Attiyeh, Edward F. ;
Diskin, Sharon J. ;
Attiyeh, Marc A. ;
Mosse, Yael P. ;
Hou, Cuiping ;
Jackson, Eric M. ;
Kim, Cecilia ;
Glessner, Joseph ;
Hakonarson, Hakon ;
Biegel, Jaclyn A. ;
Maris, John M. .
GENOME RESEARCH, 2009, 19 (02) :276-283
[5]   Emerging Paradigms in Cancer Genetics: Some Important Findings from High-Density Single Nucleotide Polymorphism Array Studies [J].
Bacolod, Manny D. ;
Schemmann, Gunter S. ;
Giardina, Sarah F. ;
Paty, Philip ;
Notterman, Daniel A. ;
Barany, Francis .
CANCER RESEARCH, 2009, 69 (03) :723-727
[6]   Estimation and assessment of raw copy numbers at the single locus level [J].
Bengtsson, H. ;
Irizarry, R. ;
Carvalho, B. ;
Speed, T. P. .
BIOINFORMATICS, 2008, 24 (06) :759-767
[7]   Genomic and transcriptional aberrations linked to breast cancer pathophysiologies [J].
Chin, Koei ;
DeVries, Sandy ;
Fridlyand, Jane ;
Spellman, Paul T. ;
Roydasgupta, Ritu ;
Kuo, Wen-Lin ;
Lapuk, Anna ;
Neve, Richard M. ;
Qian, Zuwei ;
Ryder, Tom ;
Chen, Fanqing ;
Feiler, Heidi ;
Tokuyasu, Taku ;
Kingsley, Chris ;
Dairkee, Shanaz ;
Meng, Zhenhang ;
Chew, Karen ;
Pinkel, Daniel ;
Jain, Ajay ;
Ljung, Britt Marie ;
Esserman, Laura ;
Albertson, Donna G. ;
Waldman, Frederic M. ;
Gray, Joe W. .
CANCER CELL, 2006, 10 (06) :529-541
[8]   Systematic assessment of copy number variant detection via genome-wide SNP genotyping [J].
Cooper, Gregory M. ;
Zerr, Troy ;
Kidd, Jeffrey M. ;
Eichler, Evan E. ;
Nickerson, Deborah A. .
NATURE GENETICS, 2008, 40 (10) :1199-1203
[9]   Single nucleotide polymorphism array analysis of cancer [J].
Dutt, Amit ;
Beroukhim, Rameen .
CURRENT OPINION IN ONCOLOGY, 2007, 19 (01) :43-49
[10]   Using high-throughput SNP technologies to study cancer [J].
Engle, LJ ;
Simpson, CL ;
Landers, JE .
ONCOGENE, 2006, 25 (11) :1594-1601