QIMR Berghofer

Studying Genomic and Epigenetic Aberrations by Microarray Profiling

Abstract

Genomic (genetic and epigenetic) changes are important for interindividual variation and can cause or influence a person's predisposition for a wide range of human diseases, including cancer. An important tool for the study of these genetic and epigenetic changes is the microarray. For example, high-density single nucleotide polymorphism (SNP) arrays have been used extensively to study inherited traits using genome-wide association studies (GWASs). SNP arrays have also been commonly used to profile copy number changes which occur in and are specific to cancer cells. The same microarray technology can be used to assay deoxyribonucleic acid (DNA) methylation status across the genome. Despite the emergence of next-generation sequencing, microarrays are a relatively low cost and high-throughput platform that will continue to play a role in unravelling the complexity of human diseases. Key Concepts Genomic variation exists between individuals. Microarrays can assay SNPs, copy number and methylation changes. Microarrays have been used to study human diseases, inherited genetic traits and cancer. Compared to single nucleotide polymorphisms, the contribution of inherited copy number variants to human development and disease remains relatively understudied. Microarray analysis remains simpler and cheaper than next-generation sequencing, but lack the resolution of next-generation sequencing.

Authors Walker, Logan C.; Nones, Katia; Patch, Anne-Marie; Waddell, Nicola
Journal ESSENTIAL FOR LIFE SCIENCES
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Date 1/11/2016
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URL http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1002/9780470015902.a0022417.pub2