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research article

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Rehm, Heidi L.
•
Page, Angela J. H.
•
Smith, Lindsay
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November 10, 2021
Cell Genomics

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-widemolecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

  • Details
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Type
research article
DOI
10.1016/j.xgen.2021.100029
Web of Science ID

WOS:001096937000001

Author(s)
Rehm, Heidi L.
Page, Angela J. H.
Smith, Lindsay
Adams, Jeremy B.
Alterovitz, Gil
Babb, Lawrence J.
Barkley, Maxmillian P.
Baudis, Michael
Beauvais, Michael J. S.
Beck, Tim
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Date Issued

2021-11-10

Publisher

Elsevier

Published in
Cell Genomics
Volume

1

Issue

2

Article Number

100029

Subjects

Life Sciences & Biomedicine

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Clinical Laboratories

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Matchmaker Exchange

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Precision Medicine

•

Cancer

•

Biobank

•

Discovery

•

Classification

•

Mutations

•

Science

•

Clinvar

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
LDS  
FunderGrant Number

Abigail Wexner Research Institute at Nationwide Children's Hospital

Academy of Finland

31996

Australian Medical Research Future Fund

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Available on Infoscience
February 21, 2024
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/204916
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