PB1809: COMPARISON OF OPTICAL GENOME MAPPING WITH STANDARD OF CARE TESTING TO INVESTIGATE GENOMIC ABNORMALITIES IN HAEMATOLOGICAL MALIGNANCIES: THE EXPERIENCE OF CENTRAL AND SOUTH... by Mariela Muraru, Anna Skowronska, Tyler Wilding, Sara Dyer, Nick Cross, Matthew Salmon, Laura Chiecchio, Andrew Beggs, Joanne Mason

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PB2000: A COMPREHENSIVE NGS PANEL APPROACH FOR CLINICAL GENOMIC ANALYSIS IN HAEMATOLOGICAL MALIGNANCY by Joanne Mason, Anna Skowronska, Natalie Barrows, David Hill, Paula Page, Angela Hamblin, Sam Clokie, Andrew Feber, Robert Hastings, Nicholas Cross

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A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder by Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan

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Molecular Epidemiologic Investigation of an Anthrax Outbreak among Heroin Users, Europe by Erin P. Price, Meagan L. Seymour, Derek S. Sarovich, Jennie Latham, Spenser R. Wolken, Joanne Mason, Gemma Vincent, Kevin P. Drees, Stephen M. Beckstrom-Sternberg, Adam M. Phillippy, Sergey Koren, Richard T. Okinaka, Wai-Kwan Chung, James M. Schupp, David M. Wagner, Richard Vipond, Jeffrey T. Foster, Nicholas H. Bergman, James Burans, Talima Pearson, Tim Brooks, Paul Keim

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Hydroxymethylation profile of cell-free DNA is a biomarker for early colorectal cancer by Nicolas J. Walker, Mamunur Rashid, Shirong Yu, Helen Bignell, Casper K. Lumby, Carmen M. Livi, Kate Howell, David J. Morley, Sandro Morganella, Daniel Barrell, Shabhonam Caim, Walraj Gosal, Jens Füllgrabe, Thomas J. Charlesworth, Louella Vasquez, Miika Ahdesmäki, Jordan Eizenga, Parul Prabhat, Vitali Proutski, Marie Laurie Murat-Onana, Catherine J. Greenwood, Lisa Kirkwood, Meeta Maisuria-Armer, Mengjie Li, Emma Coats, Victoria Winfield, Lachlan MacBean, Toby Stock, Alice Tomé-Fernandez, Yat Chan, Nasir Sheikh, Paula Golder, Michael Steward, Tobias W. B. Ost, Douglas Stewart, Albert Vilella, Mojtaba Noursalehi, Benedict Paten, Debora Lucarelli, Joanne Mason, Gareth Ridge, Jason Mellad, Suman Shirodkar, Shankar Balasubaramanian, Joanna D. Holbrook

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants by Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

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