Oliver Hofmann

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

Genomic and Molecular Analyses Identify Molecular Subtypes of Pancreatic Cancer Recurrence

Stephan B Dreyer, Rosie Upstill-Goddard, Assya Legrini, Andrew V Biankin, Nigel B Jamieson, David K Chang, Sarah Allison, Andrew V Biankin, Dario Beraldi, Euan Cameron, David K Chang

Journal article  |  2021  |  GASTROENTEROLOGY

Diagnostic Utility of Multimodal Genomic Profiling for Molecular Classification and MRD Assessment in Adult B-Cell Acute Lymphoblastic Leukemia

Georgina L Ryland, Ashish Bajel, Michael Dickinson, Paul G Ekert, Oliver Hofmann, Maartenl Jzerman, Ashley P Ng, Alicia Oshlack, Breon Schmidt, Ing S Tiong, Martin Vu, David Alan Westerman, Sean Grimmond, Piers Blombery

Conference Proceedings  |  2021  |  BLOOD

Abstract Genomic markers define molecular subtypes and measurable residual disease (MRD) targets in B-cell acute ly..

ROR1 and ROR2 expression in pancreatic cancer

Dongli Liu, George Sharbeen, Phoebe Phillips, Caroline E Ford

Journal article  |  2021  |  BMC CANCER

BACKGROUND: The Wnt receptors ROR1 and ROR2 are generating increased interest as cancer therapeutic targets but remain understudie..

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

Heidi L Rehm, Angela JH Page, Lindsay Smith, Jeremy B Adams, Gil Alterovitz, Lawrence J Babb, Maxmillian P Barkley, Michael Baudis, Michael JS Beauvais, Tim Beck, Jacques S Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K Bonfield, Tiffany F Boughtwood, Guillaume Bourque, Sarion R Bowers, Anthony J Brookes, Michael Brudno, et al.

Journal article  |  2021  |  Cell Genom

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of ..

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone US Leong, Arina Puzriakova, Louise C Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide va..

Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer

Sigve Nakken, Vladislav Saveliev, Oliver Hofmann, Pal Moller, Ola Myklebost, Eivind Hovig

Journal article  |  2021  |  INTERNATIONAL JOURNAL OF CANCER

The value of high-throughput germline genetic testing is increasingly recognized in clinical cancer care. Disease-associated germl..

Refget: standardized access to reference sequences

Andrew D Yates, Jeremy Adams, Somesh Chaturvedi, Robert M Davies, Matthew Laird, Rasko Leinonen, Rishi Nag, Nathan C Sheffield, Oliver Hofmann, Thomas M Keane

Journal article  |  2021  |  BIOINFORMATICS

MOTIVATION: Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especial..

Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development

Dmitry Prokopenko, Sarah L Morgan, Kristina Mullin, Oliver Hofmann, Brad Chapman, Rory Kirchner, Sandeep Amberkar, Inken Wohlers, Christoph Lange, Winston Hide, Lars Bertram, Rudolph E Tanzi

Journal article  |  2021  |  ALZHEIMERS & DEMENTIA

INTRODUCTION: Genome-wide association studies have led to numerous genetic loci associated with Alzheimer's disease (AD). Whole-ge..

Crypt4GH: a file format standard enabling native access to encrypted data

Alexander Senf, Robert Davies, Frederic Haziza, John Marshall, Juan Troncoso-Pastoriza, Oliver Hofmann, Thomas M Keane

Journal article  |  2021  |  BIOINFORMATICS

MOTIVATION: The majority of genome analysis tools and pipelines require data to be decrypted for access. This potentially leaves s..