Centre for Population Genomics

What Centre for Population Genomics does

The Centre for Population Genomics (CPG) is a not-for-profit research initiative established in 2020 as a joint venture between the Garvan Institute of Medical Research and the Murdoch Children's Research Institute, headquartered in Sydney with a remote-first team of 40+ distributed across Australia and New Zealand. The organisation builds population-scale genomic infrastructure and AI-driven analysis tools aimed at making genomic medicine more accurate, equitable, and accessible. Its work focuses on three areas: rare disease diagnosis, gene function research, and genetic diversity, with explicit emphasis on representing communities from the Pacific, South-East Asia, Middle East, and East Africa that are absent from existing genomic resources.

CPG's core technology stack centres on the CaRDinal platform, a national cloud-based collaborative analysis infrastructure hosted on Google Cloud Platform that integrates the open-source seqr variant interpretation tool, REDCap metadata links, and the Talos automated reanalysis engine. Supporting infrastructure includes Metamist for metadata management and Production Pipelines orchestrating Hail Batch and Cromwell workflows. CPG also contributes to gnomAD, the world's largest human DNA sequence database, through Director Daniel MacArthur's role. The organisation runs the OurDNA program, a culturally tailored genomic resource project with participant materials in 10 languages.

CPG does not sell products or services commercially. All outputs, including Talos and Metamist, are released under open-source permissive licenses. Revenue flows from Australian government grants, primarily the Medical Research Future Fund (A$18M committed in 2024 across AASGARD and OurDNA), plus industry partnerships including Open Targets and Genes & Health. Go-to-market is research-institution-led: CPG provides infrastructure to clinical labs, hospitals, and research consortia rather than selling to enterprise customers.

Name

Centre for Population Genomics

Legal name

The Garvan Institute of Medical Research

Website

https://populationgenomics.org.au

Company type

Private

Founded year

2020

Operating status

Operating

Headcount range

11–50 employees

Short description

The Centre for Population Genomics is an Australian not-for-profit, jointly operated by the Garvan and Murdoch Children's Research Institutes, building cloud-based genomic analysis infrastructure and AI-driven reanalysis tools to enable equitable, population-scale rare disease diagnosis and diverse genomic resource development.

Ownership category

akta.pro rank

Product category

Population Genomics Research

NAICS

Medical Laboratories (621511), Research and Development in Biotechnology (except Nanobiotechnology) (541714), Computing Infrastructure Providers, Data Processing, Web Hosting, and Related Services (5182)

akta.pro primary industry

Population Genomics & Preventive Precision Health Programs (HLAAANAL)

akta.pro secondary industries

Molecular Diagnostics & Genomics Laboratories (HLAFAMAE), Genomics & Next-Generation Sequencing (NGS) Services (HLAGANAA)

Keywords

• Population genomics research
• Rare disease genomics
• Genomic data infrastructure
• Cloud genomic analysis
• Genetic diversity research

Headquarters

HQ city

Sydney

HQ country

Australia

HQ region

Oceania

Offices2 records

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Technology or R&D, Infrastructure, Operations, Marketing or Sales

Revenue model

1. Government Research Grants: Funding from Australian government sources including Medical Research Future Fund (MRFF) grants. AASGARD received A$8 million grant for AI-driven analysis tools development.
2. Research Funding: Approximately A$5.3 million invested through the Centre for Population Genomics supporting AI-driven analysis tools development for healthcare. Additional A$10 million MRFF grant for OurDNA project.
3. Industry Partnerships: Funding from industry partnerships involving pharmaceutical companies through Open Targets and Genes & Health projects.

Go-to-market motion2 records

Distribution channels3 records

Marketing channels5 records

Core offering

The Centre for Population Genomics is a not-for-profit research initiative that builds cloud-based genomic analysis infrastructure and open-source tools to enable population-scale rare disease diagnosis and discovery. It operates the national CaRDinal platform for collaborative rare disease genomic analysis, the Talos automated reanalysis tool, and the OurDNA program for building inclusive genomic resources for diverse Australian communities. All outputs are made freely available for public benefit and funded primarily through government research grants.

Product overview

Centre for Population Genomics operates as a not-for-profit research initiative offering a portfolio of interconnected genomic analysis products and programs. The core platform is CaRDinal, a national cloud-based infrastructure for collaborative rare disease diagnosis and discovery, which integrates seqr for variant interpretation and supports automated reanalysis via Talos. Supporting infrastructure includes Metamist for metadata management and Production Pipelines for workflow orchestration. The OurDNA program focuses on genetic diversity by building inclusive genomic resources for underrepresented Australian communities. CPG also contributes to gnomAD, the world's largest human DNA sequencing database, and develops open-source tools under MIT license.

Differentiator

Problem solved

Functional benefit

Brands

• OurDNA: A flagship program building comprehensive genomic resources more representative of Australia's remarkable human diversity, partnering with communities from Pacific, South-East Asia, Middle East, and East Africa.
• CaRDinal
• Talos

Products and services

• CaRDinal Platform A national cloud-based platform supporting collaborative rare disease genomic analysis. It provides secure data sharing, cutting-edge analysis tools, automated data ingest and metadata integration, best-practice analysis pipelines for SNVs, SVs, CNVs, STRs, mitochondrial variants, and long-read genomes, and collaborative variant interpretation for Australian research cohorts and healthcare institutions.
• Talos An open-source genomic reanalysis tool that automatically reanalyses stored DNA data to detect rare diseases by identifying new scientific evidence in clinical databases such as ClinVar and translating it into patient diagnoses. Achieved 5.1% additional diagnostic yield in validated cohorts.
• Metamist A metadata tracking and coordination solution for storing and managing genomic sample metadata, scalable to thousands of samples and integrated with analytical tools such as seqr and production pipelines.
• Production Pipelines Cloud-based workflow orchestration system combining Hail Batch and Cromwell to manage multi-containerized genomic data processing pipelines with automated status tracking and metadata integration through Metamist.
• OurDNA Program A flagship program building comprehensive genomic resources more representative of Australia's human diversity, partnering with underrepresented communities from Pacific, South-East Asia, Middle East, and East Africa. Includes multicultural community engagement and recruitment of more than 2,000 prospective Indigenous Australians from NSW communities, with participant materials in 10 languages.

Quantifiable outcome

• 241 new diagnoses identified in 4,735 previously undiagnosed patients through Talos automated reanalysis
• +4 more outcomes

Named customers9 records

Segments4 records

Ideal customer profiles3 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration2 records

AI capability5 records

Feature4 records

Partnerships

Twelve partnerships are on record, tiered core and flagship.

• Microsoft ResearchcoreStrategic or Co-development Partner · 25 June 2024International collaborator in AASGARD consortium developing AI tools for genetic disease diagnosis. Microsoft Research provides technical expertise for building automated genomic reanalysis platforms.
• Genomics EnglandcoreStrategic or Co-development Partner · 25 June 2024International collaborator in AASGARD consortium bringing expertise from the 100,000 Genomes Project to accelerate AI-driven genetic disease diagnosis in Australia.
• Broad Institute of MIT and HarvardcoreStrategic or Co-development Partner · 25 June 2024International collaborator in AASGARD consortium. Broad Institute brings expertise from gnomAD and Mendelian genomics programs to Australian rare disease research.
• Australian GenomicscoreStrategic or Co-development PartnerNational alliance supporting the development of genomic resources and coordination of genomic medicine initiatives across Australian institutions.
• Garvan Institute of Medical ResearchflagshipStrategic or Co-development PartnerOne of two parent institutions. National leader in genomic research with complementary strengths in large-scale genomics, data science, population health, and clinical impact.
• Murdoch Children's Research InstituteflagshipStrategic or Co-development PartnerOne of two parent institutions. National leader in genomic research complementing Garvan's strengths in large-scale genomics and clinical translation.
• seqr (Broad Institute)coreTechnology or IntegrationWeb-based analysis and collaboration tool integrated into CaRDinal platform for rare disease genomics analysis and variant interpretation.
• Open TargetscoreStrategic or Co-development PartnerIndustry partnership with over 10 pharmaceutical industry partners investigating drug targets through loss-of-function variant analysis.
• Genes & HealthcoreStrategic or Co-development PartnerLarge-scale community research partnership investigating genetic factors in health outcomes with South Asian populations.
• ALIGN ConsortiumcoreStrategic or Co-development PartnerNational Indigenous-led consortium empowering Aboriginal and Torres Strait Islander people in genomic medicine and research. CPG provides technical leadership for genomic data infrastructure.
• CONNECT ConsortiumcoreStrategic or Co-development PartnerNational Indigenous-led effort for ethical storage, management, and sharing of genomic data to benefit Indigenous Australians.
• Australian Undiagnosed Diseases NetworkcoreStrategic or Co-development PartnerNational initiative working to lift genomic diagnosis rates for people with undiagnosed rare genetic conditions.

Scale indicators15 records

Recent moves7 records

Expansion highlights6 records

Broad incumbents

• deCODE genetics: Iceland-based subsidiary of Amgen that has sequenced a large fraction of the Icelandic population for population genomics and rare disease discovery. Comparable scientific mission with a commercial parent enabling larger scale than CPG's grant-funded model.

Direct peers

• Genomics England: UK government-funded genomics initiative running the 100,000 Genomes Project and now expanding via Generation Genome. Closely comparable to CPG as a national, publicly-funded population genomics program with rare disease focus, cloud-based analysis infrastructure, and international consortia participation (e.g., AASGARD).
• FinnGen: Public-private Finnish genomics project aiming to genotype 500,000+ participants leveraging national health registries. Shares CPG's population-scale, registry-linked approach to genomic discovery, though operating in a different national context.
• Murdoch Children's Research Institute (MCRI): One of CPG's two parent institutions. Operates overlapping rare disease genomics programs (including the Australian Undiagnosed Diseases Network) and houses VCGS, the Victorian Clinical Genetics Services. Parent-child relationship but functionally a peer in rare disease genomics research.
• Broad Institute of MIT and Harvard: Hosts gnomAD (world's largest human variation database) and the Center for Mendelian Genomics. Directly comparable scientific mission to CPG, with significant personnel overlap (Daniel MacArthur's prior leadership) and active collaboration via AASGARD.
• All of Us Research Program (NIH): US National Institutes of Health program aiming to gather health data from 1 million+ Americans, with major focus on underrepresented communities. Operates at vastly larger scale than CPG but shares the population genomics, diversity, and equity mandate, plus cloud-based analysis infrastructure.
• Garvan Institute of Medical Research: Other parent institution of CPG. Runs major genomics programs including the Genomic Cancer Medicine program and the Genomics of Rare Disease Registry — directly comparable research activities and infrastructure to CPG's programs.
• Open Targets: Industry-academia partnership (including GSK, EMBL-EBI, Wellcome Sanger) developing open-source tools and datasets for drug target identification. Overlaps with CPG's gene function work and pharma partnership model through Open Targets involvement.
• Australian Genomics: National alliance of Australian genomic research and clinical translation entities. Operates as a coordinating body for genomic medicine initiatives across Australia, overlapping with CPG's national coordination role and shared mission to integrate genomics into Australian healthcare.

Emerging players

• Human Cell Atlas: International consortium building comprehensive reference maps of all human cells. Adjacent to CPG's population genomics mission through shared focus on large-scale, diverse-cohort data resources and open-science infrastructure, though focused on cellular rather than genetic variation.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• GitHubgithub.com/populationgenomics

Revenue estimate

Valuation estimate

Number of profiles

Profiles1 record

Funding overview

Funding rounds1 record

Investors1 record

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M&A

Investments

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Frequently asked questions about Centre for Population Genomics