P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods by Rachel Oh, Ali AlMail, Huayun Hou, Gregory Costain

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A KCNC1‐related neurological disorder due to gain of Kv3.1 function by Jerome Clatot, Natalie Ginn, Gregory Costain, Ethan M. Goldberg

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O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants* by Bushra Haque, Saba Birkadze, Amy Pan, Alice Xu, Meredith Curtis, Gregory Costain

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P829: Comparative medical genetics to facilitate the interpretation of rare missense variation by Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle Morrow, Gregory Costain

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P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada by Michael Mackley, Kym Boycott, Shaimaa Helal, Lauren Chad, Gregory Costain, Ronald Cohn, Hanna Faghfoury, Aspasia Karalis, Roberto Mendoza-Londono, Robin Hayeems

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P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development by David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain

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P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing by Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Saumeh Saeedi, Daena Hirjikaka, Lauren Chad, Gregory Costain, Hanna Faghfoury, Josh Silver, Serena Shastri-Estrada, Maureen Smith, Robin Hayeems, Yvonne Bombard

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders by Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility by Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox

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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants. by Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapuram, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M Morrow, E Magda Price, Susan Walker, David Malkin, Frederick P Roth, Gregory Costain

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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods by Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain

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O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases by Wendy Ungar, Vercancy Wu, Christian Marshall, Jackie Hwang, Robin Hayeems, Kate Tsiplova, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri Stavropoulos, Viji Venkataramanan, Bowen Xiao, Sheena Li, Gregory Costain, Melanie Beaulieu Bergeron, Sarah Sawyer, Lynette Lau, Lijia Huang, Roberto Mendoza-Londono, Brian Smith, Edward Higginbotham, Martin Somerville, Kym Boycott

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P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study by Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White

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P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines by Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

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P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape by Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, Wendy Ungar, James Stavropoulos, Lijia Huang, Viji Venkataramanan, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Sarah Sawyer, Wendy Ungar, Gregory Costain, Roberto Mendoza-Londono, Robin Hayeems, Martin Somerville, Kym Boycott, Taila Hartley

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P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service by Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Taila Hartley, Sarah Sawyer, Wendy Ungar, Gregory Costain, Roberto Mendoza-Londono, Anna Pan, Jennifer Keating, Diana Matviychuk, Tamara Braid, Niri Carroll, Martin Somerville, Kym Boycott

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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions by Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease by Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations by Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

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