High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.
paper
Cited
Public
Unavailable
- Authors
- Peiffer, Daniel A; Le, Jennie M; Steemers, Frank J; Chang, Weihua; Jenniges, Tony; Garcia, Francisco; Haden, Kirt; Li, Jiangzhen; Shaw, Chad A; Belmont, John; Cheung, Sau Wai; Shen, Richard M; Barker, David L; Gunderson, Kevin L
- Year
- 2006
- Journal
- Genome research
- PMID
- 16899659
- DOI
- 10.1101/gr.5402306
- PMCID
- PMC1557768
Array-CGH is a powerful tool for the detection of chromosomal aberrations. The introduction of high-density SNP genotyping technology to genomic profiling, termed SNP-CGH, represents a further advance, since simultaneous measurement of both signal intensity variations and changes in allelic composition makes it possible to detect both copy number changes and copy-neutral loss-of-heterozygosity (LOH) events. We demonstrate the utility of SNP-CGH with two Infinium whole-genome genotyping BeadChips, assaying 109,000 and 317,000 SNP loci, to detect chromosomal aberrations in samples bearing constitutional aberrations as well tumor samples at sub-100 kb effective resolution. Detected aberrations include homozygous deletions, hemizygous deletions, copy-neutral LOH, duplications, and amplifications. The statistical ability to detect common aberrations was modeled by analysis of an X chromosome titration model system, and sensitivity was modeled by titration of gDNA from a tumor cell with that of its paired normal cell line. Analysis was facilitated by using a genome browser that plots log ratios of normalized intensities and allelic ratios along the chromosomes. We developed two modes of SNP-CGH analysis, a single sample and a paired sample mode. The single sample mode computes log intensity ratios and allelic ratios by referencing to canonical genotype clusters generated from approximately 120 reference samples, whereas the paired sample mode uses a paired normal reference sample from the same individual. Finally, the two analysis modes are compared and contrasted for their utility in analyzing different types of input gDNA: low input amounts, fragmented gDNA, and Phi29 whole-genome pre-amplified DNA.
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| Practical capability and cost effectiveness of a DNA pool-based genome-wide association study using BovineSNP50 array in a cattle population. | Uemoto Y et al. | — | 2012 | → |
| RAD21 mutations cause a human cohesinopathy. | Deardorff MA et al. | — | 2012 | → |
| Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. | Burnichon N et al. | — | 2012 | → |
| THE SCREENING AND RANKING ALGORITHM TO DETECT DNA COPY NUMBER VARIATIONS. | Niu YS et al. | — | 2012 | → |
| Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies. | Zheng X et al. | — | 2012 | → |
| A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken. | Dorshorst B et al. | — | 2011 | → |
| Allele-specific disparity in breast cancer. | Kaveh F et al. | — | 2011 | → |
| BACOM: in silico detection of genomic deletion types and correction of normal cell contamination in copy number data. | Yu G et al. | — | 2011 | → |
| CNV-WebStore: online CNV analysis, storage and interpretation. | Vandeweyer G et al. | — | 2011 | → |
| Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips. | Ritchie ME et al. | — | 2011 | → |
| Copy-neutral loss of heterozygosity at the p53 locus in carcinogenesis of esophageal squamous cell carcinomas associated with p53 mutations. | Saeki H et al. | — | 2011 | → |
| Copy number variation. | Wain LV et al. | — | 2011 | → |
| Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies. | Parisi F et al. | — | 2011 | → |
| Detection of copy number variation using SNP genotyping. | Cooper GM et al. | — | 2011 | → |
| Estimation of parent specific DNA copy number in tumors using high-density genotyping arrays. | Chen H et al. | — | 2011 | → |
| famCNV: copy number variant association for quantitative traits in families. | Eleftherohorinou H et al. | — | 2011 | → |
| Genetic variation and its role in malignancy. | Talseth-Palmer BA et al. | — | 2011 | → |
| Genome structural variation discovery and genotyping. | Alkan C et al. | — | 2011 | → |
| Genomic characteristics of cattle copy number variations. | Hou Y et al. | — | 2011 | → |
| Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. | Loudin MG et al. | — | 2011 | → |
| Genotype calling and mapping of multisite variants using an Atlantic salmon iSelect SNP array. | Gidskehaug L et al. | — | 2011 | → |
| Genotyping techniques to address diversity in tumors. | Lindgren D et al. | — | 2011 | → |
| GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays. | Li A et al. | — | 2011 | → |
| Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. | Dougherty MJ et al. | — | 2011 | → |
| LOHAS: loss-of-heterozygosity analysis suite. | Yang HC et al. | — | 2011 | → |
| Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism. | van Veghel-Plandsoen MM et al. | — | 2011 | → |
| Novel genomic techniques open new avenues in the analysis of monogenic disorders. | Kuhlenbäumer G et al. | — | 2011 | → |
| Parent-specific copy number in paired tumor-normal studies using circular binary segmentation. | Olshen AB et al. | — | 2011 | → |
| Regions of homozygosity and their impact on complex diseases and traits. | Ku CS et al. | — | 2011 | → |
| SNP and gene networks construction and analysis from classification of copy number variations data. | Liu Y et al. | — | 2011 | → |
| A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. | van der Zwaag B et al. | — | 2010 | → |
| Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. | Dougherty MJ et al. | — | 2010 | → |
| A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events. | Kukita Y et al. | — | 2010 | → |
| A genome-wide association study of amygdala activation in youths with and without bipolar disorder. | Liu X et al. | — | 2010 | → |
| Allele-specific copy number analysis of tumors. | Van Loo P et al. | — | 2010 | → |
| Analysis of the copy number profiles of several tumor samples from the same patient reveals the successive steps in tumorigenesis. | Letouzé E et al. | — | 2010 | → |
| A statistical approach for detecting genomic aberrations in heterogeneous tumor samples from single nucleotide polymorphism genotyping data. | Yau C et al. | — | 2010 | → |
| Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. | Manoli I et al. | — | 2010 | → |
| CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays. | Alonso A et al. | — | 2010 | → |
| cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. | Coin LJ et al. | — | 2010 | → |
| CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. | Gai X et al. | — | 2010 | → |
| Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. | Beaulieu Bergeron M et al. | — | 2010 | → |
| Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip. | Ramayo-Caldas Y et al. | — | 2010 | → |
| Deletion at fragile sites is a common and early event in Barrett's esophagus. | Lai LA et al. | — | 2010 | → |
| Detecting genomic aberrations using products in a multiscale analysis. | Yu X et al. | — | 2010 | → |
| Development of personalized tumor biomarkers using massively parallel sequencing. | Leary RJ et al. | — | 2010 | → |
| Differentiating Plasmodium falciparum alleles by transforming Cartesian X,Y data to polar coordinates. | DaRe JT et al. | — | 2010 | → |
| Distant metastasis occurs late during the genetic evolution of pancreatic cancer. | Yachida S et al. | — | 2010 | → |
| Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. | Qi L et al. | — | 2010 | → |
| Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. | Qi L et al. | — | 2010 | → |
| Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels. | Sun Q et al. | — | 2010 | → |
| Genome-wide catalogue of chromosomal aberrations in barrett's esophagus and esophageal adenocarcinoma: a high-density single nucleotide polymorphism array analysis. | Gu J et al. | — | 2010 | → |
| Genome-wide profiling of structural genomic variations in Korean HapMap individuals. | Bae JS et al. | — | 2010 | → |
| Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas. | Qu HQ et al. | — | 2010 | → |
| Genomic aberrations in lung adenocarcinoma in never smokers. | Job B et al. | — | 2010 | → |
| Histopathologic subtype-specific genomic profiles of renal cell carcinomas identified by high-resolution whole-genome single nucleotide polymorphism array analysis. | Yokomizo A et al. | — | 2010 | → |
| Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. | del Valle J et al. | — | 2010 | → |
| Identification of copy number variations and common deletion polymorphisms in cattle. | Bae JS et al. | — | 2010 | → |
| Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. | Bae JS et al. | — | 2010 | → |
| Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. | Prakash S et al. | — | 2010 | → |
| MixHMM: inferring copy number variation and allelic imbalance using SNP arrays and tumor samples mixed with stromal cells. | Liu Z et al. | — | 2010 | → |
| Multidimensional gene set analysis of genomic data. | Montaner D et al. | — | 2010 | → |
| Optimal Sparse Segment Identification with Application in Copy Number Variation Analysis. | Jeng XJ et al. | — | 2010 | → |
| Our changing view of the genomic landscape of cancer. | Bell DW | — | 2010 | → |
| PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data. | Greenman CD et al. | — | 2010 | → |
| Quality control and quality assurance in genotypic data for genome-wide association studies. | Laurie CC et al. | — | 2010 | → |
| Statistical genetic issues for genome-wide association studies. | Weir BS | — | 2010 | → |
| TumorBoost: normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays. | Bengtsson H et al. | — | 2010 | → |
| A flexible rank-based framework for detecting copy number aberrations from array data. | LaFramboise T et al. | — | 2009 | → |
| A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. | Takeuchi F et al. | — | 2009 | → |
| An optimization framework for unsupervised identification of rare copy number variation from SNP array data. | Yavas G et al. | — | 2009 | → |
| Application of SNP genotype arrays to determine somatic changes in cancer. | Gupta M et al. | — | 2009 | → |
| Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24. | Zöllner S et al. | — | 2009 | → |
| Comparing CNV detection methods for SNP arrays. | Winchester L et al. | — | 2009 | → |
| Comparison of comparative genomic hybridization technologies across microarray platforms. | Hester SD et al. | — | 2009 | → |
| Copy-number-variation and copy-number-alteration region detection by cumulative plots. | Li W et al. | — | 2009 | → |
| Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. | Friedman J et al. | — | 2009 | → |
| Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. | Sievert AJ et al. | — | 2009 | → |
| Gene-network analysis identifies susceptibility genes related to glycobiology in autism. | van der Zwaag B et al. | — | 2009 | → |
| Genome-wide profiling of chromosomal alterations in renal cell carcinoma using high-density single nucleotide polymorphism arrays. | Chen M et al. | — | 2009 | → |
| Genome-wide profiling of genetic alterations in acute lymphoblastic leukemia: recent insights and future directions. | Mullighan CG et al. | — | 2009 | → |
| Genomic analysis of acute leukemia. | Mullighan CG | — | 2009 | → |
| Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. | Jackson EM et al. | — | 2009 | → |
| Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. | Attiyeh EF et al. | — | 2009 | → |
| Genotyping single nucleotide polymorphisms by multiplex minisequencing using tag-arrays. | Milani L et al. | — | 2009 | → |
| Human embryonic stem cells and genomic instability. | Lefort N et al. | — | 2009 | → |
| Identification of critical regions for clinical features of distal 10q deletion syndrome. | Yatsenko SA et al. | — | 2009 | → |
| Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans. | Bossé Y et al. | — | 2009 | → |
| Illumina WG-6 BeadChip strips should be normalized separately. | Shi W et al. | — | 2009 | → |
| Increased LIS1 expression affects human and mouse brain development. | Bi W et al. | — | 2009 | → |
| Integrated study of copy number states and genotype calls using high-density SNP arrays. | Sun W et al. | — | 2009 | → |
| Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA. | Pique-Regi R et al. | — | 2009 | → |
| Markov Models for inferring copy number variations from genotype data on Illumina platforms. | Wang H et al. | — | 2009 | → |
| Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics. | Shen Y et al. | — | 2009 | → |
| Quantification of normal cell fraction and copy number neutral LOH in clinical lung cancer samples using SNP array data. | Göransson H et al. | — | 2009 | → |
| Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. | Hannes FD et al. | — | 2009 | → |
| Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future. | Alaerts M et al. | — | 2009 | → |
| Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. | LaFramboise T | — | 2009 | → |
| SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. | Kamath BM et al. | — | 2009 | → |
| SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. | Bouron-Dal Soglio D et al. | — | 2009 | → |
| The genetic contribution to non-syndromic human obesity. | Walley AJ et al. | — | 2009 | → |
| The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. | Wain LV et al. | — | 2009 | → |
| Uniparental disomy in cancer. | Tuna M et al. | — | 2009 | → |
| 3q29 interstitial microduplication: a new syndrome in a three-generation family. | Lisi EC et al. | — | 2008 | → |
| Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. | Diskin SJ et al. | — | 2008 | → |
| An algorithm for inferring complex haplotypes in a region of copy-number variation. | Kato M et al. | — | 2008 | → |
| Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. | Xiang B et al. | — | 2008 | → |
| A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. | Sharp AJ et al. | — | 2008 | → |
| Array-based DNA diagnostics: let the revolution begin. | Beaudet AL et al. | — | 2008 | → |
| Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation. | Bouron-Dal Soglio D et al. | — | 2008 | → |
| Chronic active gastritis in X-linked lymphoproliferative disease. | Rougemont AL et al. | — | 2008 | → |
| CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. | Friedman JI et al. | — | 2008 | → |
| Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors. | Baumbusch LO et al. | — | 2008 | → |
| Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. | Deardorff MA et al. | — | 2008 | → |
| Copy Number Variation Detection via High-Density SNP Genotyping. | Wang K et al. | — | 2008 | → |
| Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. | Blauw HM et al. | — | 2008 | → |
| Copy number variations (CNVs) identified in Korean individuals. | Kang TW et al. | — | 2008 | → |
| Delineation of the proximal 3q microdeletion syndrome. | Simovich MJ et al. | — | 2008 | → |
| Equine clinical cytogenetics: the past and future. | Lear TL et al. | — | 2008 | → |
| Estimating genome-wide copy number using allele-specific mixture models. | Wang W et al. | — | 2008 | → |
| Estimation and assessment of raw copy numbers at the single locus level. | Bengtsson H et al. | — | 2008 | → |
| Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. | Nordgard SH et al. | — | 2008 | → |
| Genome-wide copy number analysis in esophageal adenocarcinoma using high-density single-nucleotide polymorphism arrays. | Nancarrow DJ et al. | — | 2008 | → |
| Genomewide SNP assay reveals mutations underlying Parkinson disease. | Simon-Sanchez J et al. | — | 2008 | → |
| Genomic profiling of 766 cancer-related genes in archived esophageal normal and carcinoma tissues. | Chen J et al. | — | 2008 | → |
| Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers. | Leary RJ et al. | — | 2008 | → |
| Interstitial deletion of 13q associated with polymicrogyria. | Kogan JM et al. | — | 2008 | → |
| Modeling genetic inheritance of copy number variations. | Wang K et al. | — | 2008 | → |
| MPDA: microarray pooled DNA analyzer. | Yang HC et al. | — | 2008 | → |
| Multiple sclerosis genetics. | McElroy JP et al. | — | 2008 | → |
| Narrowing of the regions of allelic losses of chromosome 1p36 in meningioma tissues by an improved SSCP analysis. | Guan Y et al. | — | 2008 | → |
| Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios. | Staaf J et al. | — | 2008 | → |
| On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test. | Ionita-Laza I et al. | — | 2008 | → |
| On the frequency of copy number variants. | Ionita-Laza I et al. | — | 2008 | → |
| Perturbation analysis: a simple method for filtering SNPs with erroneous genotyping in genome-wide association studies. | Teo YY et al. | — | 2008 | → |
| Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. | Bruder CE et al. | — | 2008 | → |
| Ploidy status and copy number aberrations in primary glioblastomas defined by integrated analysis of allelic ratios, signal ratios and loss of heterozygosity using 500K SNP Mapping Arrays. | Gardina PJ et al. | — | 2008 | → |
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. | Mefford HC et al. | — | 2008 | → |
| Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms. | Gunnarsson R et al. | — | 2008 | → |
| Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays. | Staaf J et al. | — | 2008 | → |
| Single nucleotide polymorphism-based genome-wide chromosome copy change, loss of heterozygosity, and aneuploidy in Barrett's esophagus neoplastic progression. | Li X et al. | — | 2008 | → |
| SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. | Assié G et al. | — | 2008 | → |
| Sparse representation and Bayesian detection of genome copy number alterations from microarray data. | Pique-Regi R et al. | — | 2008 | → |
| Systematic assessment of copy number variant detection via genome-wide SNP genotyping. | Cooper GM et al. | — | 2008 | → |
| Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. | Majewski T et al. | — | 2008 | → |
| Whole-genome profiling of chromosomal aberrations in hepatoblastoma using high-density single-nucleotide polymorphism genotyping microarrays. | Suzuki M et al. | — | 2008 | → |
| Analysis of molecular inversion probe performance for allele copy number determination. | Wang Y et al. | — | 2007 | → |
| An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. | Toruner GA et al. | — | 2007 | → |
| Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. | Aradhya S et al. | — | 2007 | → |
| Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. | Jackson EM et al. | — | 2007 | → |
| Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. | Brunetti-Pierri N et al. | — | 2007 | → |
| Combining array-based approaches for the identification of candidate tumor suppressor loci in mature lymphoid neoplasms. | Nieländer I et al. | — | 2007 | → |
| Continuous-index hidden Markov modelling of array CGH copy number data. | Stjernqvist S et al. | — | 2007 | → |
| Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. | Lee C et al. | — | 2007 | → |
| Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. | Lennon PA et al. | — | 2007 | → |
| Digital karyotyping. | Leary RJ et al. | — | 2007 | → |
| Direct inference of SNP heterozygosity rates and resolution of LOH detection. | Li X et al. | — | 2007 | → |
| Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. | Hehir-Kwa JY et al. | — | 2007 | → |
| Genome-wide detection of recurring sites of uniparental disomy in follicular and transformed follicular lymphoma. | Fitzgibbon J et al. | — | 2007 | → |
| Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays. | Stark M et al. | — | 2007 | → |
| Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. | Simon-Sanchez J et al. | — | 2007 | → |
| Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. | Yamamoto G et al. | — | 2007 | → |
| High-resolution genomic microarrays for X-linked mental retardation. | Lugtenberg D et al. | — | 2007 | → |
| Mapping translocation breakpoints using a wheat microarray. | Bhat PR et al. | — | 2007 | → |
| Molecular cytogenetics: making it safe for human embryonic stem cells to enter the clinic. | Josephson R | — | 2007 | → |
| Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. | Powis Z et al. | — | 2007 | → |
| Neurofibromatosis 1, and Not TP53, seems to be the main target of chromosome 17 deletions in de novo acute myeloid leukemia. | Suela J et al. | — | 2007 | → |
| Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. | Shaikh TH | — | 2007 | → |
| PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. | Wang K et al. | — | 2007 | → |
| QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. | Colella S et al. | — | 2007 | → |
| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. | Mefford HC et al. | — | 2007 | → |
| SiDCoN: a tool to aid scoring of DNA copy number changes in SNP chip data. | Nancarrow DJ et al. | — | 2007 | → |
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. | Berg JS et al. | — | 2007 | → |
| The application of the HapMap to diabetic nephropathy and other causes of chronic renal failure. | Iyengar SK et al. | — | 2007 | → |
| The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. | Zahir F et al. | — | 2007 | → |
| Two novel deletions (array CGH findings) in pigment dispersion syndrome. | Mikelsaar R et al. | — | 2007 | → |
| Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. | Stankiewicz P et al. | — | 2007 | → |
| Whole genome genotyping technologies on the BeadArray platform. | Steemers FJ et al. | — | 2007 | → |
| Genomic microarrays in clinical diagnosis. | Veltman JA | — | 2006 | → |
| MLPA and MAPH: sensitive detection of deletions and duplications. | den Dunnen JT et al. | — | 2006 | → |