Oliver Hofmann

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..

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, Frédéric 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..

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

Vanessa Lakis, Rita T Lawlor, Felicity Newell, Ann-Marie Patch, Andrea Mafficini, Anguraj Sadanandam, Lambros T Koufariotis, Rebecca L Johnston, Conrad Leonard, Scott Wood, Borislav Rusev, Vincenzo Corbo, Claudio Luchini, Sara Cingarlini, Luca Landoni, Roberto Salvia, Michele Milella, David Chang, Peter Bailey, Nigel B Jamieson, et al.

Journal article  |  2021  |  COMMUNICATIONS BIOLOGY

Here we report the DNA methylation profile of 84 sporadic pancreatic neuroendocrine tumors (PanNETs) with associated clinical and ..

A beta-accelerated neurodegeneration caused by Alzheimer's-associated ACE variant R1279Q is rescued by angiotensin system inhibition in mice

Leah K Cuddy, Dmitry Prokopenko, Eric P Cunningham, Ross Brimberry, Peter Song, Rory Kirchner, Brad A Chapman, Oliver Hofmann, Winston Hide, Daniele Procissi, Taleen Hanania, Steven C Leiser, Rudolph E Tanzi, Robert Vassar

Journal article  |  2020  |  SCIENCE TRANSLATIONAL MEDICINE

Recent genome-wide association studies identified the angiotensin-converting enzyme gene (ACE) as an Alzheimer's disease (AD) risk..

Inotuzumab ozogamicin resistance associated with a novel CD22 truncating mutation in a case of B-acute lymphoblastic leukaemia

Georgina L Ryland, Allison Barraclough, Chun Yew Fong, Shaun Fleming, Ashish Bajel, Oliver Hofmann, David Westerman, Sean Grimmond, Piers Blombery

Journal article  |  2020  |  BRITISH JOURNAL OF HAEMATOLOGY

RAF1 rearrangements are common in pancreatic acinar cell carcinomas

Owen WJ Prall, Violeta Nastevski, Huiling Xu, Christopher RE McEvoy, Joep HA Vissers, David J Byrne, Elena Takano, Satwica Yerneni, Sarah Ellis, Thomas Green, Catherine A Mitchell, William K Murray, Clare L Scott, Sean M Grimmond, Oliver Hofmann, Anthony Papenfuss, Damien Kee, Andrew Fellowes, Ian S Brown, Gregory Miller, et al.

Journal article  |  2020  |  MODERN PATHOLOGY

There is now evidence that gene fusions activating the MAPK pathway are relatively common in pancreatic acinar cell carcinoma with..

Targeting the undruggable in pancreatic cancer using nano-based gene silencing drugs.

John Kokkinos, Rosa Mistica C Ignacio, George Sharbeen, Cyrille Boyer, Estrella Gonzales-Aloy, David Goldstein, undefined Australian Pancreatic Cancer Genome Initiative Apgi, Joshua A McCarroll, Phoebe A Phillips

Journal article  |  2020  |  Biomaterials

Pancreatic cancer is predicted to be the second leading cause of cancer-related death by 2025. The best chemotherapy only extends ..

Identification of Novel Alzheimer's Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data.

Dmitry Prokopenko, Julian Hecker, Rory Kirchner, Brad A Chapman, Oliver Hoffman, Kristina Mullin, Winston Hide, Lars Bertram, Nan Laird, Dawn L DeMeo, Christoph Lange, Rudolph E Tanzi

Journal article  |  2020  |  Sci Rep

With the advent of whole genome-sequencing (WGS) studies, family-based designs enable sex-specific analysis approaches that can be..