Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing
Other Publication ResearchOnline@JCUAbstract
Increasingly affordable sequencing technologies are revolutionizing the field of genomic medicine. It is now feasible to interrogate all major classes of variation in an individual across the entire genome for less than $1000 USD. While the generation of patient sequence information using these technologies has become routine, the analysis and interpretation of this data remains the greatest obstacle to widespread clinical implementation. This chapter summarizes the steps to identify, annotate, and prioritize variant information required for clinical report generation. We discuss methods to detect each variant class and describe strategies to increase the likelihood of detecting causal variant(s) in Mendelian disease. Lastly, we describe a sample workflow for synthesizing large amount of genetic information into concise clinical reports.
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Publication Name
Deep Sequencing Data Analysis
Volume
2243
ISBN/ISSN
978-1-0716-1102-9
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Pages Count
25
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Publisher
Humana Press
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Publisher Location
New York, NY, USA
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EISSN
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DOI
10.1007/978-1-0716-1103-6_1