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 159-172 (January 2017) DOI: 10.1016/j.mayocp.2016.10.019 Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions

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 2017 92, 159-172DOI: (10.1016/j.mayocp.2016.10.019) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions

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 2017 92, 159-172DOI: (10.1016/j.mayocp.2016.10.019) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions

Figure 3 Genomic sequencing trajectory from the 1990s to the present. Mayo Clinic Proceedings 2017 92, 159-172DOI: (10.1016/j.mayocp.2016.10.019) Copyright © 2016 Mayo Foundation for Medical Education and Research Terms and Conditions