P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive by Priya Bhola, Aren Marshall, Melanie Beaulieu Bergeron, Kym Boycott, Jean McGowan-Jordan

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P509: Resolution of variants of uncertain significance by RNA sequencing by Aren Marshall, Giulia Del Gobbo, Yijing Liang, Madeline Couse, Kym Boycott, Kristin Kernohan

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P605: RNA sequencing as a second-line test for rare disease by Aren Marshall, Giulia Del Gobbo, Yijing Liang, Madeline Couse, Kym Boycott, Kristin Kernohan

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P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care* by Elisabeth Soubry, Taila Hartley, Meryl Ackers, Brenda McInnes, Emilie Théberge, Andrea Goodman, Christian Marshall, Kristin Kernohan, Kym Boycott

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P482: The clinical utility of genome-wide sequencing for rare disease: A multidimensional map by Robin Hayeems, Viji Venkataramanan, Katharine Fooks, Karen MacDonald, Trevor Seeger, Taila Hartley, Francois Bernier, Kym Boycott, Deborah Marshall

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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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P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia by Alexanne Cuillerier, Layla Mackay, Erika Wall, Giulia Del Gobbo, Luke Seldenthuis, Wendy Mears, Alexandre White-Brown, Laura Larrigan, David Dyment, Kym Boycott

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P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains by Edward Higginbotham, Lynette Lau, Bhooma Thiruvahindrapuram, Jeffrey MacDonald, Wilson Sung, Olivia Moran, Afia Hasnain, Dimitri Stavropoulos, Melanie Beaulieu Bergeron, Kym Boycott, Vanda McNiven, Kathy Chun

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O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium by Giulia Del Gobbo, Madeline Couse, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William Rowell, Egor Dolzhenko, Guilherme De Sena Brandine, Michael Eberle, Christian Marshall, Kristin Kernohan, Kym Boycott

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P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis by E. Magda Price, Meredith Gillespie, Caitlin Chisholm, Ruben Attali, Talia Silver, Anna Szuto, GSO Study Team, Jacques Michaud, Dennis Bulman, Jordan Lerner-Ellis, Ma'n Zawati, Vincent Ferretti, Francois Bernier, Christian Marshall, Kym Boycott

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P642: Development and deployment of clinical genome sequencing using a cloud-based platform by Lynette Lau, Edward Higginbotham, Wilson Sung, Venuja Sriretnakumar, Meredith Curtis, Caitlin Chisholm, Meredith Gillespie, Anna Pan, Sean Kim, Sean Simko, E. Magda Price, Marianne Eliou, Anna Szuto, Michelle Axford, Martin Somerville, Kym Boycott, Jean McGowan-Jordan, Melaine Beaulieu Bergeron, James Stavropoulos, Lijia Huang, Christian Marshall

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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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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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P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts by Elise Poole, Stephanie Luca, Daniel Assamad, Bowen Xiao, Joyce Yan, Pooja Banglorewala, Cheryl Xia, Wendy Ungar, Lesleigh Abbott, Linlea Armstrong, Patricia Birch, Kym Boycott, June Carroll, Lauren Chad, David Chitayat, Avram Denburg, Rebecca Deyell, Alison Elliott, Catherine Goudie, Anne-Marie Laberge, Melissa Maio, Iskra Peltekova, Becky Quinlan, Sarah Sawyer, Rachel Silver, Maureen Smith, Ronni Teitelbaum, Anita Villani, Tasha Wainstein, Robin Hayeems

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P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing by Katharine Fooks, Lydia Vermeer, Elise Poole, Stephanie Luca, Riyana Babul-Hirji, Lauren Chad, David Chitayat, Michael Mackley, Marci Schwartz, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Joyce Yan, Abigail Hansen, Viji Venkataramanan, Daniel Assamad, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Cara Inglese, Virginie Beausejour Ladouceur, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Olivia Moran, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott

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P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings by Abigail Hansen, Stephanie Luca, Olivia Moran, Riyana Babul-Hirji, Joyce Yan, Katharine Fooks, Viji Venkataramanan, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Elise Poole, Daniel Assamad, Pooja Banglorewala, Lydia Vermeer, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Lauren Chad, Cara Inglese, Virginie Ladouceur, Michael Mackley, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott, Wendy Ungar, Robin Hayeems

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders by Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

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