Our Work

Global Alliance Task Teams are formedThe diverse members of the Global Alliance are working together to create interoperable approaches to catalyze projects that will help unlock the great potential of genomic data. Our Working Groups work on the following Initiatives that develop key Work Products.

Clinical

Initiatives (5)

  • Catalogue of Global Activities - Genomic Data Initiatives

    This catalogue provides information on world-wide genomic data initiatives, including national precision medicine initiatives, data-sharing initiatives, databases and repositories, international genomics research consortia and projects, and other genomics data resources.

  • Catalogue of Global Activities - Mendelian

    In line with Clinical Working Group’s desire to not reinvent the wheel and learn from existing endeavours, the group has created the catalogue of current activities related to data sharing to be used as a resource for researchers and clinicians. The Work Product will include a list of specific activities for sharing data on Mendelian Genetic Disorder with a brief description, website information and contact information compiled for each activity.

  • Clinical Cancer Genome

    To harmonize the sequencing efforts in the global cancer community by highlighting existing efforts that are currently interoperable or working to become so.

  • eHealth

    To identify current efforts in eHealth that attempt to collect and link genomic and phenotypic data and to promote awareness and learning from best practices.

  • Phenotype Ontologies

    To bring together existing international efforts to develop and promote standard language and tools for recording patient clinical phenotypes and exploiting phenotype data for diagnostics and translational research.

Data

Initiatives (9)

  • Benchmarking

    The Benchmarking Task Team is working to develop variant calling benchmark toolkits for germline, cancer, and transcripts.

  • Containers and Workflows

    The GA4GH containers and workflow group is focused on technologies and best practice methodologies for running portable and reproducible genomic analysis pipelines.

  • Directory and Streaming API

    The Global Alliance Data Working Group Directory and streaming API Task Team is developing a protocol for bulk streaming of read sequencing data, with an initial focus on using existing next-generation sequencing file formats (SAM/BAM/CRAM) and standard internet protocols for transfer, with a future path to others.

  • File Formats

    The Global Alliance Data Working Group File Formats Task Team are the custodians of the SAM/BAM, CRAM and VCF/BCF file formats.

  • Metadata Task Team

    The Metadata team is designing datamodels to define technical, individual and sample related metadata. This will provide an interoperable specification to best meet the requirements of the other DWG teams, with the minimum needed to support the use cases.

  • Reference Genomes

    To describe how genomes differ so researchers can assemble and interpret them.

  • RNAseq Team

    The RNA and Gene Expression Task Team provides APIs to interoperably store, process, explore, and share RNA sequence reads, computed transcript structures, and their expression levels.

  • Variant Annotation

    The mission of Variant Annotation Task Team (VATT) is to develop common standards for reporting variant annotation including results formats, ontologies and vocabularies for different classes of annotation so reporting is consistent and in a manner that facilitates benchmarking and evaluation.

  • Variant Interpretation for Cancer Consortium

    The Variant Interpretation for Cancer Consortium (VICC) aims to harmonize global efforts for clinical interpretation of cancer variants and to implement software systems to query across standardized knowledgebases.

Completed Initiatives

  • Genotype2Phenotype Association

    The work of this Team was completed in September 2016.
    The Genotype2Phenotype Association Task Team is formalizing the language and methods used to better represent Genotype-Phenotype associations.

  • Reads Task Team

    Completed in January 2015. Provided APIs to interoperably store, process, explore, and share DNA sequence reads.

Regulatory and Ethics

Initiatives (9)

  • Ageing and Dementia

    To develop tools and policies to facilitate international data sharing and promote health innovations relating to dementia.

  • Automatable Discovery and Access

    To develop and standardize computer readable data use-types via consent forms, in collaboration with the International Rare Diseases Research Consortium (IRDiRC).

  • Data Protection Regulation

    To analyze and rapidly respond to data protection regulation development occurring around the world.

  • Ethics Review Equivalency

    To develop models that allow for mutual recognition of ethics review.

  • Mobile Health Consent

    To assemble an inventory of studies seeking self-guided electronic consent to research and data sharing, e.g., through mobile platforms, and to identify best practices for consent for these studies.

  • Paediatric

    To explore regulatory and ethical issues related to genomic newborn screening and to develop policies, tools, and guidelines to accelerate sharing of paediatric data around the world.

  • Privacy-Preserving Record Linkage Task Team

    The objective of this joint IRDiRC-GA4GH Task Force would be to develop a guiding policy for the generation of participant-specific identifiers (pseudonyms) that enable data from the same individual to be connected across multiple projects without directly revealing the participant’s identity. This policy will build on the GA4GH Framework, the Consent Policy, the Privacy & Security Policy, and the Accountability Policy.

  • Participant Values

    The activities of this task team are two-fold:

    1. To develop an international survey to explore the attitudes of potential research participants to individual level genotypic and phenotypic data sharing (led by Anna Middleton). The results of which will contribute to GA4GH policy development on data sharing.
    2. To develop policy on an individual’s ability to access his/her own genomic data (led by Natasha Bonhomme).
  • Registered Access

    To define a registered access level, how is it distinct from open access or controlled access, and when one can (or should) move from one access process to another.

Completed Initiatives

  • Accountability Policy

    Completed in February 2016. Developed an Accountability Policy that defines governance and accountability of Global Alliance Members.

  • Consent

    Completed in May 2015. Developed core elements of consent to enable responsible data sharing, including clauses relating to privacy, international research collaboration, and processes and methods for data storage.

  • Data Safe Havens

    Completed in October 2014. Developed platforms for the secure and efficient exchange of clinical and genomic data.

  • Data Sharing Lexicon

    Completed in March 2016. Assembled a lexicon of common or concordant terms related to data sharing.

  • Framework

    Completed in October 2014. Developed a Framework: Framework for Responsible Sharing of Genomic and Health-Related Data.

  • Privacy and Security Policy

    Completed in May 2015. Developed a Privacy and Security Policy for genomic and clinical data sharing.

Security

Initiatives (2)

  • Cloud Security

    To provide guidance around cloud security, including protections expected of cloud service providers.

  • Software Security

    The Software Security Task Team makes specific recommendations for implementing the various elements of the security infrastructure with a focus on software security.

Completed Initiatives

  • Privacy and Security Policy

    Completed in May 2015. Developed a Privacy and Security Policy for genomic and clinical data sharing.

  • Data Safe Havens

    Completed in October 2014. Developed platforms for the secure and efficient exchange of clinical and genomic data.

  • Framework

    Completed in October 2014. Developed a Framework: Framework for Responsible Sharing of Genomic and Health-Related Data.