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Updated: Apr 23, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Bioinformatics in otolaryngology research. Part two: other high-throughput platforms in genomics and epigenetics
T J Ow1, K Upadhyay2, T J Belbin2
1Department of Otorhinolaryngology - Head and Neck Surgery,Montefiore Medical Center and Albert Einstein College of Medicine,Bronx,New York,USA.
Objectives:
This second segment of the two-part review summarises several modern high-throughput methods in genomics, epigenetics and molecular biology. Many principles from nucleotide sequencing and transcriptomics can be applied to other high-throughput molecular biology techniques. Specifically, this manuscript reviews: array comparative genome hybridisation; single nucleotide polymorphism arrays; microarray technology, used to study epigenetics; and methodology applied in proteomics. Finally, the review describes current methods for the integration of multiple molecular biology platforms.
Conclusion:
Progress in treating human disease in general will require close collaboration with experts in bioinformatics. Improved understanding, by clinicians and physician-scientists in our field, of the concepts presented in both parts of this review will advance diagnosis and therapy for diseases of the head and neck.
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