Prostate Cancer Research project

2019 update:

Chol Hee Jung has been carrying out the quality control and processing of Australian data and the identification and analysis of genomic variants using various analysis pipelines on this major research project. He also handled the local management of data and organised data sharing with international collaborators.

Further funding

Preliminary investigations have contributed to the award of $4million over 3 years for the Australian PRECEPT Program funded by the Prostate Cancer Research Alliance, an Australian Government and Movember Foundation Collaboration. Lead investigator is A/Prof Niall Corcoran and Chief investigators include A/Prof Bernie Pope and A/Prof Danny Park from Melbourne Bioinformatics.

Project description

This project aims to reveal how the tumour progresses to lethal metastatic stages and the detailed view of tumour cells by integrated genomic and epigenomic variants analyses from cohort patients. A part of the work from this project also contributes to the international Pan-Prostate Cancer Group collaboration.

Project collaborators

Prof Christopher Hovens and A/Prof Niall Corcoran (project lead), Dr Ken Chow (sample information curation), Royal Melbourne Hospital

Prof Tony Papenfuss, Ms Jocelyn Penington, Dr Justin Bedo (analysis), WEHI

A/Prof Bernie Pope, Dr Chol-hee Jung, A/Prof Danny Park, Bioinformaticians and Mr Edmund Lau, Data analyst and manager, Melbourne Bioinformatics


This project is supported by an Australian Prostate Cancer Research grant awarded to Prof Christopher Hovens.

Engineering microbial symbionts that increase coral climate resilience

2019 update:

This work progressed well in 2019, with Gayle Philip and Dieter Bulach sharing their expertise with the Prof van Oppen’s team.

Along with conducting her own analysis of high-throughput data generated by the lab, Gayle has been upskilling members of the lab to be able to perform their own analyses. This has included implementing systems for storage of data in MediaFlux, communication in the lab through MS Teams and teaching lab members how to access the University of Melbourne’s High Performance Computing system (Spartan). Through the lab’s association with the Environmental Microbiology Research Initiative (EMRI), Gayle has delivered workshops for EMRI including: Galaxy and Data Formatting, Nectar and Spartan HPC and Introduction to Unix.

Project description

This research focuses on microbial symbiosis in corals, adaptation/acclimatisation to climate change, and connectivity of coral reefs. It is particularly focussed on ‘assisted evolution’, where mechanisms of adaptation and acclimatisation in corals and genetic manipulations to enhance stress tolerance and fitness of corals in a changing environment are explored.

Read more about Prof van Oppen’s work here.

Project collaborators

Prof Madeleine van Oppen, Chair, Marine Biology, University of Melbourne (School of BioSciences) and Senior Principal Research Scientist at the Australian Institute of Marine Science (AIMS))

The van Oppen lab team

Dr Gayle Philip, Melbourne Bioinformatics

Dr Dieter Bulach, Melbourne Bioinformatics


This project is supported by an ARC Australian Laureate Fellowship (2019-23) awarded to Prof van Oppen.

Genetics of Colorectal Cancer (CRC)

2019 update:

This project continued to progress well in 2019, with Khalid Mahmood sharing his expertise with the group.

Several significant collaborations have developed across several projects in the laboratory. The focus of these collaborations has been to use genomics and associated clinical data to characterise CRCs to improve screening and diagnostics strategies for patients. Some of the key tasks have been to deploy state of the art bioinformatics methods to analyse germline and tumour genomics sequencing data to characterise different subtypes of CRCs as well as identity new variations and genes that predispose families to higher risk of developing CRC. Work from these collaborations has resulted in several publications under preparation or review. In addition, work has involved supervision of several honours students.


Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome, Georgeson et al, Molecular Genetics and Genomic Medicine.

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data, Jung et al, International Journal of Molecular Science.


Seminar, University of Melbourne Centre for Cancer Research

Oral presentation, International Conference InSiGHT (International Society for Gastrointestinal Hereditary Tumours).

Project description

The focus of the Colorectal Oncogenomics Group (COG) led by Assoc Prof Daniel Buchanan includes the identification and investigation of clinically and biologically relevant subtype of colorectal cancers (CRC) in both familial and non-familial settings. The analysis involves a wide range of multi-disciplinary techniques ranging from computational biology, epigenetics and genomics to analyse tumour and pre-malignant lesions in terms of their histopathological features. This very successful collaboration covers a range of colorectal cancer projects including those forming part of the University-hosted NHMRC Centre for Research Excellence in Optimising Screening for Colorectal Cancer, whose vision is to create and implement a personalised approach to colorectal cancer screening to reduce the number of new cases and deaths from this common disease.

Project collaborators

Assoc Prof Daniel Buchanan, University of Melbourne

Assoc Prof Bernie Pope, Melbourne Bionformatics

Prof Ingrid Winship, Royal Melbourne Hospital & University of Melbourne

Prof Mark Jenkins, University of Melbourne Centre for Cancer Research

Dr Khalid Mahmood, Melbourne Bioinformatics


This project is supported by significant grants from NHMRC, NIH and Cancer Australia.

Identification and function of genes that increase risk for endometriosis

2019 update:

This project has made some very good progress in 2019, with Jessica Chung providing the expertise from our team to enable

  •  development of a method to normalise cycle stage effects in endometrium expression data
  •  developed an interactive R Shiny application where the research group can explore microarray and RNA-seq data with their own parameters
  •  analysis of endometriosis severity and BMI, lipidomics data, uterine receptivity, and clinical factors that influence repeat surgery.

Project description

Endometriosis is a disorder that affects 5 – 10% of reproductive age women in Australia, causing severe pain and infertility. This project aims to use genomic data to identify candidate genes that increase the risk of endometriosis. We are also investigating mechanisms that cause reduced endometrial receptivity, the association between BMI and endometriosis, and clinical indicators that can predict repeat surgery for endometriosis.

Project collaborators

Prof Peter Rogers, Professor Of Women’s Health Research, Obstetrics and Gynaecology Royal Women’s Hospital/Mercy
Dr Sarah Carson, Research Fellow, Obstetrics And Gynaecology Royal Women’s Hospital/Mercy
Dr Wan Tinn Teh, Clinician, Royal Women’s Hospital & Melbourne IVF
Ms Jessica Chung, Melbourne Bioinformatics


NHMRC: Identification And Function Of Genes That Increase Risk For Endometriosis (Grant number: 1105321, 2016-2019)

Using genetic testing to solve brothers’ health mystery

It’s one thing to identify a genetic disorder, but another to successfully treat it. In great news this month, Melbourne Genomics shared the story of two brothers whose genetic disorder was identified and treated, here in Melbourne. Thanks to all the teams involved, including our own team working on the genomic data analysis pipelines.

Full story.



Hi-Plex 2 just released: a simple and robust approach to targeted sequencing-based genetic screening

Hi-Plex was developed by our Molecular Biologist, Assoc Prof Daniel Park and Computer Scientist, Assoc Prof Bernard Pope, co-leads of our Human Genomics Group at Melbourne Bioinformatics, to simplify processes and reduce costs on projects needing targeted sequencing of panels of genes across large numbers of specimens. It brings greater efficiency and accuracy to all such research projects – big and small.

Go here for background to the original Hi-Plex. 

Hi-Plex 2, published July 2019 is suitable for an extensive range of clinical and research applications and is complemented by software for primer design and variant calling. It still enables a PCR-based target-enrichment system, unrivalled in terms of simplicity, accuracy and cost.

What improvements have been made?

By ironing out some problems incurred when working with bigger targets, Hi-Plex 2 now more effectively enables the robust construction of small-to-medium panel-size libraries while maintaining the low cost, simplicity and accuracy benefits of the Hi-Plex platform. Hi-Plex 2 returns substantial reduction of off-target amplification to enable library construction for small to medium sized design panels not possible using the previous Hi-Plex chemistry.

Contact the Hi-Plex team for information and collaboration enquiries from tech transfer, reagent design, methods, data analysis, including bespoke analysis pipelines.

Genovic now ready for use in clinical genomic testing

25 February 2019

Following our July 2018 update, Genovic, Victoria’s shared clinical system for genomics, has now reached a further milestone. Last week Melbourne Genomics announced that GenoVic is now ready for use in clinical genomic testing.

Victorian Clinical Genetics Services (VCGS) is the first laboratory to agree to use the GenoVic system as its primary tool for genomic interpretation. The system will support VCGS’ medical scientists to identify and report on the exact changes in a patient’s DNA driving their condition or targetable for treatment.

Further agreements on implementing GenoVic are in process with Alliance members Monash Health, AGRF and The Royal Melbourne Hospital.

Get the full story at the Melbourne Genomics website.

Congratulations to Anthony Marty and his team on their contribution to the success of this project.

Working to embed genomics into everyday healthcare

Technology Manager, Melbourne Genomics & Software Engineer, Melbourne Bioinformatics, Mr Anthony Marty

Members of the Melbourne Genomics team recently travelled to the US to share experiences with colleagues. Our own Anthony Marty, as a member of the team building the Alliance’s shared clinical data system for genomics, co-presented at the DNAnexus Connect conference in San Francisco on ‘How DNAnexus is part of a system to embed genomics into everyday healthcare.’

Read the full story on Melbourne Genomics website.

GOBLET launches Critical Guides for bioinformatics training on f1000’s Bioinformatics Education & Training Collection

Since its foundation in 2012, the Global Organisation for Bioinformatics Learning, Education & Training (GOBLET) has built its activity through the support of its global membership and energetic and committed elected officers. Its vision is to unite, inspire and equip bioinformatics trainers worldwide through cultivating the global bioinformatics trainer community, setting standards and providing high-quality resources to support learning, education and training. Support for bioinformatics training is coordinated through various Committees: Learning, Education and Training; Fundraising; Standards; Outreach & PR; Technical.

GOBLET members now act as Community Advisors to the recent f1000 initiative: the f1000 Bioinformatics Education and Training Collection. As part of that Collection, in September 2018, a new Introduction to Bioinformatics series, containing a set of Critical Guides was published. The first Guides in the series cover: UnixBLASTUniProtKBUniProtKB Flat-file FormatInterPro, and PDB:

EMBL-ABR is a GOLD member of GOBLET and Sonika Tyagi from EMBL-ABR’s Monash Bioinformatics Node currently sits on the Standards Committee. As a Node of EMBL-ABR, Melbourne Bioinformatics has access to all GOBLET activities and resources.

Read more about GOBLET’s first five years in this 2017 report: Full report. Executive Summary.

For all GOBLET questions, their Executive Board may be reached via


Content provided on behalf of GOBLET’s Executive Board by Dr Celia W.G. van Gelder, Programme Manager DTL Learning, Training Coordinator ELIXIR-NL, ELIXIR Training Platform Leader

Working towards an Australian Bioinformatics Commons

This week project convenor and Director, Melbourne Bioinformatics and EMBL-ABR, updated the EMBL-ABR International Scientific Advisory Group, as consultants to this project, on progress to date. A summary follows:

1. Phase 3a of the Australian Biosciences Data Capability project (now the Australian Bioinformatics Commons) was an extremely useful use-case activity to determine the technical and implementation details for a national bioinformatics infrastructure investment. It confirmed that there are a number of bioinformatics services that would provide genuine value across the national researcher community; additionally, a national training program in concert with national infrastructure resources and closely aligned with international programs would provide broad benefit. The full report is available here.

2. Earlier this year a very significant multi-year NCRIS investment in both Bioplatforms Australia (BPA) (~$110m over 5 years) and the Australian Research Data Commons (ARDC) (~$200m over 5 years) was announced. These investments are so significant that both bodies are now each undertaking strategic review processes, intended to drive multi-year infrastructure programs starting July 2019 in both cases.

3. As part of BPA’s strategic review, and funded and endorsed by BPA, this project will now build on this national consultation and planning work done to date to propose a detailed infrastructure and expertise investment strategy. It is expected that the proposal will be comprehensive and contain alternative models for how such infrastructure might be funded, delivered and managed. It will be very important that this project continues to consult closely with the ARDC during this planning period to make sure ambitions align.

Each member of the national Reference Group will now be contacted once more, to help work towards the next phase of this activity, and to assemble some smaller community-aligned groups from the Reference Group to explore specific objectives and plans.

Galaxy Australia August 2018 update

The ongoing evolution of services behind the GVL, including Galaxy Australia, saw a number of solid outcomes for our teams at Melbourne Bioinformatics and QCIF throughout May to August.

Galaxy Community Conference

Key Galaxy developer Simon Gladman and UQ’s Derek Benson attended the Galaxy Community Conference held in Portland, Oregon from 25-30 June 2018. Simon gave a presentation on Galaxy Australia and how we are contributing to the global community efforts for the project. He was also an invited panel member at five other sessions. We are very pleased to see Galaxy Australia is playing a key role in the development of this exciting, active community and look forward to continuing to do so.

Winter School

QFAB’s Gareth Price, presented on Galaxy Australia and the GVL at the University of Queensland (UQ) -hosted Winter School in Mathematical and Computational Biology held in early July. Alongside, at the Australian Society of Microbiology’s annual conference, Gareth, supported by Scott Beatson (conference co-organiser), presented a 1.5hr workshop on Galaxy focussed on resources for microbiologists.

Rolling out national Galaxy Australia training

Throughout 2018 the Galaxy Australia project team is working with the EMBL-ABR Hub and Nodes to roll out a national bioinformatics training program. Following a successful two-day facilitator training workshop held in Melbourne in July, four workshops are planned for introducing Galaxy Australia capabilities to researchers, with demonstrations based around different themes: genome assembly, variant detection, RNA-seq and metagenomics.

The first of these workshops (on 22 Wednesday) was led by Dr Anna Syme from Melbourne Bioinformatics, who is coordinating training for Galaxy Australia, with trained facilitators on hand at a ten venues across Australia. These facilitators are supporting their local participants during the live online training event. With over 100 registrants for the first workshop, we are confident this hybrid delivery model is helping to meet the growing demand for bioinformatics training in Australia, where we are always challenged by the tyranny of distance.

The future for the GVL?

Further suggestions for how the GVL may develop further include a wish list of new tools such as Pacbio, Nanostring and Nanopore analysis. The project team is now considering the possibility of including non-genomic tools in Galaxy Australia (metabolomics, proteomics etc) to make it more of an extended –omics platform. With the enthusiasm for what the Galaxy platform is delivering amongst the growing global community of developers and users, this might possibly be the next phase in the GVL’s development.

Release 1 of Genovic: Melbourne Genomics’ shared clinical system for genomics

4 July 2018

Melbourne Genomics is excited to have completed delivery of Release 1 of Genovic: its shared clinical system for genomics. This point marks conclusion of the first phase, which has:

  • established and implemented pipelines built on DNAnexus
  • selected a curation tool and implemented this as a shared system
  • integrated all these services.

The next phase of GenoVic (Release 2) will involve working with the laboratories to integrate their systems with GenoVic, enabling clinical tests to be operational in the system.

GenoVic integration lead and Melbourne Bioinformatics software engineer, Anthony Marty said the completion of Release 1 was a significant milestone for the Alliance: 

The system we have established now successfully runs singleton germline samples from end-to-end (that is, from sequencing, through curation and to production of a clinical report). We are just weeks away from having tumour/normal and trio samples supported within the system, as well.

It has taken a tremendous amount of work from everyone across the Alliance to get to this point. I am now looking forward to working with the laboratories to implement their clinical workflows.

Follow all the news from the Melbourne Genomics website.

CloudLaunch: discover and launch pre-configured software for a variety of clouds

The Australian-made Genomics Virtual Laboratory keeps on producing outcomes for Melbourne Bioinformatics. Yesterday (10 May 2018) co-authors Enis Afgan (ex-VLSCI, now Johns Hopkins University), Andrew Lonie (Melbourne Bioinformatics), James Taylor (Johns Hopkins University) and Nuwan Goonasekera (Melbourne Bioinformatics) submitted this paper to Cornell University’s arXiv, which outlines how to launch complex applications (typical for bioinformatics) across various cloud providers:

CloudLaunch: Discover and Deploy Cloud Applications


Link to paper here:

Leiden Open Variation Database developer Ivo Fokkema heads home after extensive work on our Genomics Health Alliance projects

For the second time in two years Melbourne Bioinformatics has hosted visiting scholar, Ivo F.A.C. Fokkema, from Leiden University Medical Center in the Netherlands. Ivo leaves us this week, having spent the past three months progressing his LOVD database development project.

LOVD is an online platform for storing and sharing genetic variation, as well as software for analysing whole-exome sequencing data. Developed by Ivo and used by the Melbourne Genomics Health Alliance, the platform has potential to be used within the Australian Genomics Health Alliance for sharing of all genetic findings by the Alliance’s members, as well as for the further development of the whole-exome sequencing analysis platform. Ivo’s visit has continued to develop relationships and interest in the use of the platform for this work.

I am very grateful to Melbourne Bioinformatics for once again hosting me here; they provide an excellent network of expertise and a great environment to work in, says Ivo.

We look forward to hearing how this project evolves, with Ivo continuing to progress it from Leiden.

EMBL-ABR 2017 Annual Report out now

Life science research is and will increasingly be shaped by infrastructure that supports it. At the beginning of Big Data biology, this meant funding sequencers and computers and while we still need those, we also need to become smarter. Increases in our ability to solve the big problems in biology have come as much from scaling people (through training, sharing of practices, and collaboration) as they have from cheaper sequencing or faster processors.  

Jason Williams, Chair, International Science Advisory Group

Link to full report here.