Germline and Tumor Whole Genome Sequencing As a Diagnostic Tool to Resolve Suspected Lynch Syndrome
medRxiv preprint doi: https://doi.org/10.1101/2020.03.12.20034991; this version posted March 17, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome Bernard J. Pope1,2,3, Mark Clendenning1,2, Christophe Rosty1,2,4,5, Khalid Mahmood1,2,3, Peter Georgeson1,2, Jihoon E. Joo1,2, Romy Walker1,2, Ryan A. Hutchinson1,2, Harindra Jayasekara1,2,6, Sharelle Joseland1,2, Julia Como1,2, Susan Preston1,2, Amanda B. Spurdle7, Finlay A. Macrae8,9,10, Aung K. Win11, John L. Hopper11, Mark A. Jenkins11, Ingrid M. Winship9,10, Daniel D. Buchanan1,2,10* 1 Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia 2 University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia 3 Melbourne Bioinformatics, The University of Melbourne, Parkville, Victoria, Australia 4 Envoi Pathology, Brisbane, Queensland, Australia 5 University of Queensland, School of Medicine, Herston, Queensland, Australia 6 Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia 7 Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Queensland, Australia 8 Colorectal Medicine and Genetics, The Royal Melbourne
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