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

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Presentation on theme: "Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory  Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison."— Presentation transcript:

1 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 (June 2018) DOI: /j.ajhg Copyright © 2018 American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2018 American Society of Human Genetics Terms and Conditions

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