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Whole-Genome Sequencing in Healthy People
Noralane M. Lindor, MD, Stephen N. Thibodeau, PhD, Wylie Burke, MD, PhD Mayo Clinic Proceedings Volume 92, Issue 1, Pages (January 2017) DOI: /j.mayocp Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions
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Figure 1 Overview of the next-generation DNA sequencing workflow. CNV = copy number variant; Indels = insertions and deletions; SNV = single nucleotide variant; SV = structural variant. Adapted from Gut,6 with permission. Mayo Clinic Proceedings , DOI: ( /j.mayocp ) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions
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Figure 2 Clinically relevant pharmacogenomic variants are not uncommon in the general population. FDA = Food and Drug Administration. Data from Nature,19 with permission. Mayo Clinic Proceedings , DOI: ( /j.mayocp ) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions
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Figure 3 Genomic sequencing trajectory from the 1990s to the present.
Mayo Clinic Proceedings , DOI: ( /j.mayocp ) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions
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