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The Benefits of a Genome-Wide View

Linda Seaton
| Feb 16, 2015

Classical cytogenomics looks at chromosomes using cell biology or fluorescence in situ hybridization (FISH) methods. Those tools have enabled researchers to detect cancers and congenital abnormalities, however they can only identify major abnormalities. Microarrays, such as the CytoSNP-850K BeadChip, and next-generation sequencing offer a genome-wide view at a resolution that was unimaginable a few years ago.

According to Dr. Trilochan Sahoo, MD, Director of Cytogenetics at Combimatrix, these tools are changing the field of cytogenetics dramatically. “With microarrays, we can scan the entire genome and find a link to the phenotype in a significant fraction of samples,” Dr. Sahoo said. “We knew that chromosomal rearrangements and loss of amplification of specific genes can happen in cancer, but we didn’t realize the nature, variety, and magnitude of these abnormalities.” Using microarrays, “we now often identify multiple abnormalities in cancer samples and are slowly trying to understand what fraction or subsets of these abnormalities are truly actionable,” Dr. Sahoo added.

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