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# Data Sharing
[TOC]
## Data Sharing Principles
Data are expected to be shared so as to maximize the value of the significant public investment in the creation and
operation of the network. In addition, given the special nature of the project, every effort should be made to share
data in a timely and comprehensive manner. Individuals with undiagnosed conditions have often gone for extended periods
of time without a diagnosis. Sharing results as rapidly and as broadly as possible holds the promise of accelerating
diagnoses and identifying potential treatments for those with these often very serious conditions.
## NIH policies
In general our data sharing principles are consistent with the goals of the NIH Data Sharing Policy above, which states
that
> “Data should be made as widely and freely available as possible while safeguarding the privacy of participants, and
protecting confidential and proprietary data.”
Our data sharing practices are aligned with the goals and requirements of the NIH Genomic Data Sharing Policy, which
expects genomic data generated by NIH-funded research studies to be submitted to a relevant database no later than 3
months after data quality and control have been completed, and expects data to be released up to 6 months after data
submission is initiated or at the time of acceptance of initial publication, whichever occurs first.
Specifically, in the interest of rapid progress, we are committed to:
1. Model a collaborative, open, interdisciplinary spirit, characterized by mutual trust and respect across disciplines,
individuals, areas of expertise, institutions, and by demonstrating interest and engagement beyond their own specific
domains.
2. Ensure that data generated at individual sites are comparable and additive by adhering to NIH or other best practice
or governing body data standards.
3. Make data available to external databases in a timely and effective manner.
The following publicly accessible databases are candidates for data sharing:
- **dbGaP**: dbGaP5 (Database of Genotypes and Phenotypes) is an NIH-sponsored controlled access repository that was
developed to archive and distribute the data and results from studies that have investigated the interaction of genotype
and phenotype in humans. For each participant, phenotypic data entered into the Gateway and genotypic data, in the form
of BAM and VCF files, are deposited in dbGaP.
- **PhenomeCentral**: PhenomeCentral is a global repository and collaboration platform for secure data sharing in the
rare and undiagnosed diseases community.
- **ClinVar**: ClinVar is a freely accessible, public archive of the relationships between specific human variations and
phenotype. For each participant diagnosed with a genetic condition, variant level data will be shared in ClinVar. All
data are submitted in accordance with ClinVar requirements. Currently, this includes: gene symbol, reference sequence,
descriptions of DNA and protein level sequence variants using Human Genome Variation Society (HGVS) nomenclature,
variant type, transcript, cytogenetic and genomic positions, clinical significance and supporting evidence, demographic
information, and phenotype information. We commit to depositing de-identified participant data no later than 6 months
after return of findings or publication.
## References
1. NIH Data Sharing Policy. <http://grants.nih.gov/grants/policy/data_sharing/>
2. Final NIH Statement on Sharing Research Data, February 26, 2003.
(<http://grants.nih.gov/grants/guide/notice-files/NOT-OD-03-032.html>)
3. NIH Genomic Data Sharing Policy <https://www.federalregister.gov/documents/2014/08/282014>
20385/final-nih-genomic-data-sharing-policy
4. HHS - Office for Civil Rights - HIPAA. <http://www.hhs.gov/ocr/hipaa/>
5. Tryka KA, Hao L, Sturcke A, Jin Y, Wang ZY, Ziyabari L, Lee M, Popova N, Sharopova N, Kimura M, Feolo M. NCBI's
Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res. 2014 Jan;42(Database issue):D975-9.
6. Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE,
Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. PhenomeCentral: a portal
for phenotypic and genotypic matchmaking of patients with rare genetic diseases. Hum Mutat. 2015 Oct;36(10):931-40.