Global Alliance to Create Standards For Sharing Genomic Data

doi:10.1002/ajmg.a.36168

Toward a Risk-Utility Data Governance Framework for Research Using Genomic and Phenotypic Data in Safe Havens: Multifaceted Review (Preprint)

10.2196/preprints.16346 ◽

2019 ◽

Author(s):

Kerina Jones ◽

Helen Daniels ◽

Sharon Heys ◽

Arron Lacey ◽

David V Ford

Keyword(s):

Case Studies ◽

Genomic Data ◽

Control Measures ◽

Data Governance ◽

Global Alliance ◽

Phenotypic Data ◽

Specific Level ◽

Governance Framework ◽

Administrative Record ◽

Core Elements

BACKGROUND Research using genomic data opens up new insights into health and disease. Being able to use the data in association with health and administrative record data held in safe havens can multiply the benefits. However, there is much discussion about the use of genomic data with perceptions of particular challenges in doing so safely and effectively. OBJECTIVE This study aimed to work toward a risk-utility data governance framework for research using genomic and phenotypic data in an anonymized form for research in safe havens. METHODS We carried out a multifaceted review drawing upon data governance arrangements in published research, case studies of organizations working with genomic and phenotypic data, public views and expectations, and example studies using genomic and phenotypic data in combination. The findings were contextualized against a backdrop of legislative and regulatory requirements and used to create recommendations. RESULTS We proposed recommendations toward a risk-utility model with a flexible suite of controls to safeguard privacy and retain data utility for research. These were presented as overarching principles aligned to the core elements in the data sharing framework produced by the Global Alliance for Genomics and Health and as practical control measures distilled from published literature and case studies of operational safe havens to be applied as required at a project-specific level. CONCLUSIONS The recommendations presented can be used to contribute toward a proportionate data governance framework to promote the safe, socially acceptable use of genomic and phenotypic data in safe havens. They do not purport to eradicate risk but propose case-by-case assessment with transparency and accountability. If the risks are adequately understood and mitigated, there should be no reason that linked genomic and phenotypic data should not be used in an anonymized form for research in safe havens.

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Toward a Risk-Utility Data Governance Framework for Research Using Genomic and Phenotypic Data in Safe Havens: Multifaceted Review

Journal of Medical Internet Research ◽

10.2196/16346 ◽

2020 ◽

Vol 22 (5) ◽

pp. e16346

Author(s):

Kerina Jones ◽

Helen Daniels ◽

Sharon Heys ◽

Arron Lacey ◽

David V Ford

Keyword(s):

Case Studies ◽

Genomic Data ◽

Control Measures ◽

Data Governance ◽

Global Alliance ◽

Phenotypic Data ◽

Specific Level ◽

Governance Framework ◽

Administrative Record ◽

Core Elements

Background Research using genomic data opens up new insights into health and disease. Being able to use the data in association with health and administrative record data held in safe havens can multiply the benefits. However, there is much discussion about the use of genomic data with perceptions of particular challenges in doing so safely and effectively. Objective This study aimed to work toward a risk-utility data governance framework for research using genomic and phenotypic data in an anonymized form for research in safe havens. Methods We carried out a multifaceted review drawing upon data governance arrangements in published research, case studies of organizations working with genomic and phenotypic data, public views and expectations, and example studies using genomic and phenotypic data in combination. The findings were contextualized against a backdrop of legislative and regulatory requirements and used to create recommendations. Results We proposed recommendations toward a risk-utility model with a flexible suite of controls to safeguard privacy and retain data utility for research. These were presented as overarching principles aligned to the core elements in the data sharing framework produced by the Global Alliance for Genomics and Health and as practical control measures distilled from published literature and case studies of operational safe havens to be applied as required at a project-specific level. Conclusions The recommendations presented can be used to contribute toward a proportionate data governance framework to promote the safe, socially acceptable use of genomic and phenotypic data in safe havens. They do not purport to eradicate risk but propose case-by-case assessment with transparency and accountability. If the risks are adequately understood and mitigated, there should be no reason that linked genomic and phenotypic data should not be used in an anonymized form for research in safe havens.

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Interactive Analytics for Very Large Scale Genomic Data

10.1101/035295 ◽

2015 ◽

Cited By ~ 1

Author(s):

Cuiping Pan ◽

Nicole Deflaux ◽

Gregory McInnes ◽

Michael Snyder ◽

Jonathan Bingham ◽

...

Keyword(s):

Large Scale ◽

Biological Function ◽

Genomic Data ◽

Biological Information ◽

Data Handling ◽

Public Cloud ◽

Information Compression ◽

Cloud Infrastructure ◽

Global Alliance ◽

Web Browser

Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity and diversity these data harbor, a robust and scalable data handling and analysis solution is desired. Here we present interactive analytics using public cloud infrastructure and distributed computing database Dremel and developed according to the standards of Global Alliance for Genomics and Health, to perform information compression, comprehensive quality controls, and biological information retrieval in large volumes of genomic data. We demonstrate that such computing paradigms can provide orders of magnitude faster turnaround for common analyses, transforming long-running batch jobs submitted via a Linux shell into questions that can be asked from a web browser in seconds.

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An Empirical Study on Effects of Global Alliance Activities on Alliance Innovations of Korean Companies

International Commerce and Information Review ◽

10.15798/kaici.13.3.201109.229 ◽

2011 ◽

Vol 13 (3) ◽

pp. 229-248

Author(s):

정종식

Keyword(s):

Empirical Study ◽

Global Alliance

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Phylogeny of actin and tubulin gene homologs in diverse eukaryotic species

Indian Journal of Genetics and Plant Breeding (The) ◽

10.31742/ijgpb.79s.1.20 ◽

2019 ◽

Vol 79 (01S) ◽

Author(s):

Pawan Kumar Jayaswal ◽

Asheesh Shanker ◽

Nagendra Kumar Singh

Keyword(s):

Evolutionary Relationship ◽

Genomic Data ◽

Gene Clusters ◽

Species Trees ◽

Model Species ◽

Tubulin Gene ◽

Tubulin Genes ◽

Eukaryotic Species ◽

Relationship Of ◽

Insight Into

Actin and tubulin are cytoskeleton proteins, which are important components of the celland are conserved across species. Despite their crucial significance in cell motility and cell division the distribution and phylogeny of actin and tubulin genes across taxa is poorly understood. Here we used publicly available genomic data of 49 model species of plants, animals, fungi and Protista for further understanding the distribution of these genes among diverse eukaryotic species using rice as reference. The highest numbers of rice actin and tubulin gene homologs were present in plants followed by animals, fungi and Protista species, whereas ten actin and nine tubulin genes were conserved in all 49 species. Phylogenetic analysis of 19 actin and 18 tubulin genes clustered them into four major groups each. One each of the actin and tubulin gene clusters was conserved across eukaryotic species. Species trees based on the conserved actin and tubulin genes showed evolutionary relationship of 49 different taxa clustered into plants, animals, fungi and Protista. This study provides a phylogenetic insight into the evolution of actin and tubulin genes in diverse eukaryotic species.

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