Assembly of microarrays for genome-wide measurement of DNA copy number
Nature GeneticsPublished 30 October 2001
Antoine M. Snijders, Norma J. Nowak, Richard Segraves, Stephanie Blackwood, Nils Brown, Jeffrey M. Conroy
Citations1,003
SJR quartileQ1
SJR score16.59
SNIP6.64
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
The arrays provide precise measurement in cell lines and clinical material, so that they can reliably detect and quantify high-level amplifications and single-copy alterations in diploid, polyploid and heterogeneous backgrounds.
Abstract
We have assembled arrays of approximately 2,400 BAC clones for measurement of DNA copy number across the human genome. The arrays provide precise measurement (s.d. of log2 ratios=0.05-0.10) in cell lines and clinical material, so that we can reliably detect and quantify high-level amplifications and single-copy alterations in diploid, polyploid and heterogeneous backgrounds.
Keywords
Biochemistry, Genetics and Molecular Biology
Nature GeneticsHigh resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
2,249 Citations1998Daniel Pinkel, Richard Segraves +12 more
The implementation of array CGH is demonstrated to be able to measure copy number with high precision in the human genome, and to analyse clinical specimens by obtaining new information on chromosome 20 aberrations in breast cancer.
Nature GeneticsQuantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene
597 Citations2000Donna G. Albertson, Bauke Ylstra +7 more
It is shown here that quantitative measurement of DNA copy number across amplified regions using array comparative genomic hybridization (CGH) may facilitate oncogene identification by providing precise information on the locations of both amplicon boundaries and amplification maxima.
Proceedings of the National Academy of SciencesComparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells
455 Citations1999Christoph A. Klein, Oleg Schmidt‐Kittler +4 more
A PCR strategy is described for global amplification of DNA from a single eukaryotic cell that enables the comprehensive analysis of the whole genome and demonstrates its usefulness for assessing clonal evolution of genetic variants in complex populations.
NatureIntegration of cytogenetic landmarks into the draft sequence of the human genome
324 Citations2001Vivian G. Cheung, N. Nowak +58 more
This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome and provides an independent validation of the sequence map and framework for contig order and orientation.
The American Journal of Human GeneticsAn Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture
292 Citations2000Samantha J.L. Knight, Christa M. Lese +14 more
The size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified.
Genome ResearchDetecting Gene Copy Number Fluctuations in Tumor Cells by Microarray Analysis of Genomic Representations
103 Citations2000R. Lucito
It is demonstrated that arrays of DNA probes derived from low-complexity representations can be used to detect amplifications, deletions, and polymorphic differences when hybridized to representations of genomic DNA.
Developmental GeneticsKlinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray
89 Citations1998Dan Geschwind, J. Gregg +11 more
An ordered DNA microarray covering the X chromosome PAR at high resolution for hybridization with two-color fluorescently labeled probes is developed and the ability to detect changes in hybridization signal that will facilitate efficient large-scale screening of this region for alterations in gene dosage associated with features of anomalies dominance and other cognitive or behavioral phenotypes is demonstrated.