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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley C. Adès, Lauren Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin B. Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary‐Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce Hopper, Ari Horton, Matthew F. Hunter, Aamira Huq, Sarah Josephi‐Taylor, Himanshu Joshi, Edwin P. Kirk, Emma Krzesinski, Kishore R. Kumar, Frances A. Lemckert, Richard J. Leventer, Suzanna Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie A. Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb S. Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid Sinnerbrink, Janine Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Yang Tan, Esther Tantsis, Michel Tchan, Bryony A. Thompson, Alison Trainer, Karin van Spaendonck‐Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark Williams

2021Genetics in Medicine104 citationsDOIOpen Access PDF

Topics & Concepts

RNARNA splicingAmpliconGenetic testingBiologyGeneticsComputational biologyGeneIntronMedicineBioinformaticsPolymerase chain reactionGenomics and Rare DiseasesRNA Research and SplicingRNA modifications and cancer
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants | Litcius