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Sequencing Platform

Offering accredited and scalable short- and long-read sequencing of DNA and RNA, tailored to meet the needs of researchers worldwide.

The Garvan Sequencing Platform offers research-accredited, scalable sequencing services for standard genomics and transcriptomics. We have supported genomic sequencing in Australia since 2012 and have the expertise to create customised solutions that accommodate project goals – from small research studies to large-scale cohorts.

The Sequencing Platform was established within Garvan to support and enable cutting-edge research by making available advanced and rapidly evolving research technologies. The Sequencing Platform provides a 'fee for service' for short- and long-read sequencing.

We also offer R&D solutions and partnership opportunities for highly bespoke projects and commercial enterprises.

Short-read sequencing

Powered by Illumina technology, we offer a range of sequencing services:

  • A fully customisable service, including sample quality control, library preparation and sequencing, through to FASTQ data delivery
  • Acceptance of human and non-human samples from a wide variety of biological sources – including tissue, blood and saliva – and across multiple preservation methods
  • Illumina PCR-free whole genome sequencing (WGS), with ≥ 85% of bases above Q30 guaranteed
  • PolyA enrichment or Ribo/Globin depletion RNAseq options
  • Provision of the Illumina TruSight Oncology 500 (TSO500) targeted DNA/RNA sequencing assay
  • Acceptance of user-submitted sequencing libraries
  • Accommodation of a range of sequencing coverages (DNA) and depths (RNA).

Long-read sequencing

Equipped with the latest instruments from both Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio), we are Australia’s leading long-read research sequencing service. Long-read sequencing is an emerging field that is already transforming our understanding of genomic, transcriptomic and epigenomic variation, and improving disease diagnosis.

Common research applications for long-read sequencing include:

  • Genome sequencing and assembly
  • Resolving challenging genes, repetitive regions and structural variation
  • Characterisation of full-length RNA isoforms and alternative splicing
  • Single-cell and spatial isoform sequencing
  • Detection of DNA/RNA base modifications, such as 5-methylcytosine
  • Metagenomics and pathogen sequencing

We support genome, transcriptome, single-cell and metagenome sequencing projects of all types and pride ourselves on enabling custom research projects that push the boundaries. With ONT PromethION and PacBio Revio instruments, Garvan is uniquely equipped to deliver cost-effective long-read sequencing at any scale. 

Please enquire at:


We offer our expertise for the establishment and optimisation of new protocols, the undertaking of novel pilot studies and as partner investigators for grant funding submissions. Spanning a variety of sequence-based requirements – including hybridisation capture, microarray, digital PCR, and quantitative real-time PCR – our highly skilled staff are open to working with a broad range of potential partners, from academic researchers to commercial enterprises.

If you would like to access our services, please email our customer service team to discuss your project and request a quote.

Our services are provided through our sample submission portal. Once you have accepted your quote, we will issue you with login details for the portal, which will guide you through the sample submission process and deliver your data files once sequencing is completed. Data files generated from submitted samples will be made available through a cloud-based platform, in FASTQ format. Garvan will retain the data files for a period of 90 days from the date of delivery.

Our turnaround time ranges from 30 business days for WGS – from date of sample receipt to date of data delivery – to within 40 business days for RNAseq and TruSight Oncology 500 targeted sequencing. Faster turnaround times can be arranged dependent upon the project and whether whole sequencing lanes or flow cells are requested. The anticipated turnaround time will be specified on your quote. Please discuss your needs with a member of the Garvan Sequencing Platform upon initial enquiry. In the event that any samples or projects don’t meet agreed QC metrics, customers will be notified to seek an agreement on whether/how to proceed, and the subsequent turnaround time will be revised. For more information about turnaround times, please see the sample submission guidelines.

Using the shipping labels provided by the Garvan Sequencing Platform, please send samples via mail or courier to:

Garvan Sequencing Platform

Garvan Institute of Medical Research

Precinct Loading Dock

West Street (off Burton Street)

Darlinghurst NSW 2010


Phone: +61 (0) 2 9355 5789

At the time of shipping, please email with your express mail tracking number, as this will allow us to monitor your shipment. We will notify you when the samples have been received and approved under these guidelines in the lab.

For international customers

In addition to the above instructions, please ensure that the following documents are clearly attached to the outer package:

  • AQIS Import Permit (supplied by the Garvan Sequencing Platform)
  • Manufacturer’s Declaration (supplied by the Garvan Sequencing Platform)
  • Four copies of Customs Declaration (customer to provide)

We currently recommend World Courier, LabCabs, DGI and Logical Freight Solutions. We strongly advise against the use of DHL or FedEx for shipment of samples to Australia.

Selected Publications

See all publications
  • 2023
    Science (New York, N.Y.)10.1126/science.abj4784

    Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

    Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma Rath, Peter Priestley, Jonathan Baber, Isabelle Ray-Coquard, Nicholas Isambert, Sylvain Causeret, Winette T A van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V Pearson, Andrew P Barbour, Shuai Li, Tuong L Nguyen, Diane Fatkin, Robert M Graham, Eleni Giannoulatou, Melissa J Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E Powell, Edwin Cuppen, Kristel van Eijk, Jan Veldink, Jin-Hee Ahn, Jeong Eun Kim, R Lor Randall, Kathy Tucker, Ian Judson, Rajiv Sarin, Thomas Ludwig, Emmanuelle Genin, Jean-Francois Deleuze, , Michelle Haber, Glenn Marshall, Murray J Cairns, Jean-Yves Blay, , David M Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R Lor Randall, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault
  • 2022
    European journal of human genetics : EJHG10.1038/s41431-022-01162-2

    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

    Lisa J Ewans, Andre E Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F Buckley, Mark J Cowley, Marcel E Dinger, Tony Roscioli
  • 2022

    The retroelement Lx9 puts a brake on the immune response to virus infection.

    Nenad Bartonicek, Romain Rouet, Joanna Warren, Claudia Loetsch, Gabriela Santos Rodriguez, Stacey Walters, Francis Lin, David Zahra, James Blackburn, Jillian M Hammond, Andre L M Reis, Ira W Deveson, Nathan Zammit, Mahdi Zeraati, Shane Grey, Daniel Christ, John S Mattick, Tatyana Chtanova, Robert Brink, Marcel E Dinger, Robert J Weatheritt, Jonathan Sprent, Cecile King
  • 2022

    African-specific molecular taxonomy of prostate cancer.

    Weerachai Jaratlerdsiri, Jue Jiang, Tingting Gong, Sean M Patrick, Cali Willet, Tracy Chew, Ruth J Lyons, Anne-Maree Haynes, Gabriela Pasqualim, Melanie Louw, James G Kench, Raymond Campbell, Lisa G Horvath, Eva K F Chan, David C Wedge, Rosemarie Sadsad, Ilma Simoni Brum, Shingai B A Mutambirwa, Phillip D Stricker, M S Riana Bornman, Vanessa M Hayes
  • 2022

    Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

    Ryan L Davis, Kishore R Kumar, Clare Puttick, Christina Liang, Kate E Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E Minoche, Velimir Gayevskiy, Amali C Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E Dinger, Mark J Cowley, Carolyn M Sue


The Garvan Sequencing Platform has been a key partner in many of our projects, and has generated whole-genome sequencing data from more than 3,200 individuals from several cohorts, including the largest sequencing project to date in individuals of Australian Indigenous ancestry. The Platform has generated high-quality data at the scale and speed we needed, and we've really appreciated their professional and collaborative approach to designing, executing, and trouble-shooting projects.
Centre for Population Genomics
We have been delighted to partner with the Garvan Sequencing Platform on two nationally important and culturally sensitive genome sequencing projects for Aotearoa-New Zealand. They are a trusted and responsive partner in this work and have proved adaptable and flexible when variations to protocols or alternative work practices were required by our participating Māori communities.
The excellent quality of sequencing data generated by the diligent staff and world class facilities within the Garvan Sequencing Platform have enabled us to bring our research discoveries to the international scientific community and the clinic. Responsive and professional staff ensure everything from quoting, sample submission and accessioning to delivery of data is consistently quick and easy. This partnership with the Garvan Sequencing Platform has allowed OrthoDx to take our technology to the investor market and raise over $3M in our first tranche with the second tranche kicking off to take advantage of global healthcare interests. We are looking forward to our continued relationship with the team at the Garvan Sequencing Platform as we bring a slate of new technologies into the market to address the clinical conundrum of infectious vs non-infectious inflammatory conditions in various specialties across the medical landscape.




02 9355 5789