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Genomics III: Methods, Techniques and Applications
Genomics III: Methods, Techniques and Applications
iConcept Press

Chapter 1

Genomics III: Methods, Techniques and Applications

Exome Sequencing and Biomedical Implications

by Esra Asilmaz, Terry Gaasterland and Bahar Taneri

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In the recent years, high-throughput sequencing of whole genomes, targeted exome sequencing and RNA sequencing technologies have accelerated biomedical discovery and applications. Next generation sequencing technologies enable sequence data output at very high rates. Effective translation of the accumulating high-throughput sequence data into meaningful biomedical knowledge and application relies in its interpretation. Combined sequencing approaches enable correct identification of mutations and their impact on messenger RNA transcripts (Srirangalingam & Chew, 2012). The era of Personal Genome sequencing brings personalized DNA, RNA diagnostics and thus personalized healthcare and medicine. Personal genome and personal exome sequencing yields rapid sequence data from patients and controls, and thus provides an invaluable source for comparative mutation analysis. It is expected that personal genomics will be of common use in medical practice in the future (Gonzaga-Jauregui et al., 2012). Needless to say sequencing goes hand in hand with computation. High-throughput sequence analyses are only made possible via intelligent computational systems designed particularly to decipher meaning of the complex world of nucleotides (Zhang et al., 2011). In this chapter, we particularly discuss the advance brought specifically by exome sequencing to rare mutation identification in various disease states (Taneri et al., 2012).

Author Details

Esra Asilmaz
University College London Hospital, United Kingdom, UK
Terry Gaasterland
Scripps Genome Center, Scripps Institution of Oceanography, University of California, San Diego, USA, Canada
Bahar Taneri
Department of Biological Sciences / Institute of Public Health Genomics, Eastern Mediterranean University, Famagusta, North Cyprus / Maastricht University, Maastricht, The Netherlands, Netherlands


Esra Asilmaz, Terry Gaasterland and Bahar Taneri. Exome Sequencing and Biomedical Implications. In Genomics III: Methods, Techniques and Applications. ISBN:978-1-922227-416. iConcept Press. 0000.