Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility by Zoe Fehlberg, Zornitza Stark, Marlena Klaic, Stephanie Best

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Analysis of public perceptions on the use of artificial intelligence in genomic medicine by Jack E. Harrison, Fiona Lynch, Zornitza Stark, Danya F. Vears

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Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program by Kirsten Boggs, Fiona Lynch, Michelle Ward, Sophie E. Bouffler, Samantha Ayres, Robin Forbes, Amanda Springer, Michelle G. de Silva, Elly Lynch, Lyndon Gallacher, Tenielle Davis, Ana Rakonjac, Kirsty Stallard, Gemma R. Brett, Zornitza Stark

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P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis by Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha

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Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol by Stephanie Best, Melissa Martyn, Chirag Patel, Kushani Jayasinghe, Zornitza Stark, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Catherine Quinlan, Andrew J Mallett

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O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs by Nina Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene, Jonathan Berg, François Boemer, Wendy Chung, Heidi Cope, David Eckstein, Nicolas Encina, Laurence Faivre, Alessandra Ferlini, Judit Garcia-Villoria, Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad, Nidhi Shah, Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To, Lilian Downie

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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud

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Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years by Kushani Jayasinghe, Erik Biros, Trudie Harris, Alasdair Wood, Rosie O’Shea, Lauren Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdre Hahn, Gopala Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola K. Poplawski, Vanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, Anna Leaver, Alison H. Trainer, Ella J. Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda Lewit-Mendes, Peter G. Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas A. Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh McCarthy, Illias Goranitis, Stephanie Best, Stephen Alexander, Zornitza Stark, Andrew J. Mallett

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

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