原创力文档rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype快速可视化微阵列拷贝数检测的数据结构变化与疾病表型有关.pdfVIP
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rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype快速可视化微阵列拷贝数检测的数据结构变化与疾病表型有关
Rapid Visualisation of Microarray Copy Number Data for
the Detection of Structural Variations Linked to a
Disease Phenotype
1 1 1 1 1,2
Ian M. Carr *, Christine P. Diggle , Kamron Khan , Chris Inglehearn , Martin McKibbin ,
1 1,3 1 3 4
David T. Bonthron , Alexander F. Markham , Rashida Anwar , Angus Dobbie , Sergio D.J. Pena ,
Manir Ali1
1 School of Medicine, University of Leeds, Leeds, United Kingdom, 2 Ophthalmology Department, St James’s University Hospital, Leeds, United Kingdom, 3 Department of
Clinical Genetics, St James’s University Hospital, Leeds, United Kingdom, 4 Department of Biochemistry and Immunology, Universidade Federal de Minas Gerais and GENE
- Nucleo de Genetica Medica, Belo Horizonte, Minas Gerais, Brazil
Abstract
Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or
deletions (,1Kb), a significant proportion of genetic variability is due to copy number variation (CNV). The possible role of
CNV in monogenic and complex diseases has recently attracted considerable interest. However, until the development of
whole genome, oligonucleotide micro-arrays, designed specifically to detect the presence of copy number variation, it was
not easy to screen an individual for the presence of unknown deletions or duplications with sizes below the level of
sensitivity of optical microscopy (3–5 Mb). Now that currently available oligonucleotide micro-arrays have in excess of a
mil
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