Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison.

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O. Dorschner, Deborah A. Nickerson, Peggy D. Robertson, Gail P. Jarvik, Laura M. Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F. Rope, Jacob Reiss, Tia Kauffman, Marian J. Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A.B. Goddard, C. Sue Richards The American Journal of Human Genetics Volume 102, Issue 6, Pages 1078-1089 (June 2018) DOI: 10.1016/j.ajhg.2018.04.004 Copyright © 2018 American Society of Human Genetics Terms and Conditions

Figure 1 Schematic Representative of Variant Filtering. The solid arrows are variants that were prioritized and stippled arrows indicate the variants that were discarded in the analysis. The numbers of variants depicted are averages per person. The American Journal of Human Genetics 2018 102, 1078-1089DOI: (10.1016/j.ajhg.2018.04.004) Copyright © 2018 American Society of Human Genetics Terms and Conditions