The Human Variome Project facilitates the integration of free and open collection, curation, interpretation, and sharing of human genetic variation information into routine clinical practice. To achieve this, the Human Variome Project Consortium works collaboratively to define international standards and guidelines that describe best-practice methodology in each of these areas, which can then be utilised in the implementation of specific systems and processes.
Recommended System Status is an accreditation process designed to encourage the adoption of Human Variome Project Standards and Guidelines and to provide clear guidance to data providers and consumers as to which systems, procedures and tools are known to be in compliance with these standards. Specific systems, processes and tools that have been assessed under the process described below as complying with relevant Human Variome Project Standards, Guidelines, Policies and Position Statements, and that are made available free of charge for non-commercial use are eligible for Recommended System Status.
Recommended System Status is granted by the Human Variome Project International Scientific Advisory Committee after consideration of the comments and recommendations of at least three peer reviewers.
Applying for Recommended System Status
Applications for Recommended System Status can be made at any time to the International Scientific Advisory Committee via the International Coordinating Office. Applications should consist of a concise summary of:
- the system and its features;
- the extent to which the system is currently being utilised;
- the HVP Standards and Guidelines the system is compliant with; and
- the access and license terms and conditions under which the system is made available.
All applications should consist of no more than two pages and must be emailed to hvp_rss@variome.org. Applicants are encouraged to suggest up to three potential reviewers for their application.
Recommended Systems
| # | System, Process or Tool | Application | Submitted By | Submitted Date | Date Approved | Reviewer Reports |
|---|---|---|---|---|---|---|
| IRDiRC009 | Online Mendelian Inheritance in Man (OMIM) | N/A | Ada Hamosh | 2016-02-10 | 2016-04-06 | N/A |
| IRDiRC009 | Human Phenotype Ontology (HPO) | N/A | Peter Robinson | 2015-10-09 | 2015-11-12 | N/A |
| IRDiRC007 | International Consortium of Human Phenotype Terminologies (ICHPT) | N/A | Ségolène Aymé | 2015-10-09 | 2015-11-12 | N/A |
| IRDiRC006 | The DECIPHER project | N/A | Matt Hurles & Helen Firth | 2015-09-14 | 2015-11-12 | N/A |
| IRDiRC005 | Framework for Responsible Sharing of Genomic and Health-Related Data | N/A | Bartha Knoppers | 2015-08-25 | 2015-11-12 | N/A |
| IRDiRC004 | Orphanet Rare Disease Ontology (ORDO) | N/A | Ana Rath | 2015-04-07 | 2015-10-08 | N/A |
| IRDiRC003 | PhenomeCentral | N/A | Michael Brudno | 2015-04-20 | 2015-10-08 | N/A |
| IRDiRC002 | Orphanet | N/A | Ana Rath | 2015-07-10 | 2015-08-04 | N/A |
| IRDiRC001 | International Charter of Principles for sharing Bio-Specimens and Data | N/A | Mats Hansson | 2015-06-16 | 2015-08-04 | N/A |
| RSS002 | Mutalyzer |  |
Peter Taschner | 2012-07-05 | 2013-12-12 | |
| RSS005 | Locus Reference Genomic sequence format | |
Raymond Dalgleish | 2013-06-06 | 2013-12-12 | |
| RSS003 | LOVD | |
Peter Taschner | 2012-07-05 | 2013-05-08 | |
| RSS001 | HGVS Nomenclature | |
Peter Taschner | 2012-07-05 | 2013-05-08 | |
Applications under Review
| # | System, Process or Tool | Application | Submitted By | Submitted Date | ICO Liaison | Status |
|---|---|---|---|---|---|---|
| RSS004 | VarioML - variant data exchange format | |
Raymond Dalgleish | 2013-03-07 | Timothy D. Smith | Under Review |
| RSS006 | VariO | |
Mauno Vihinen | 2014-04-26 | Timothy D. Smith | Under Review |
| RSS007 | Cafe Variome | |
Owen Lancaster | 2014-05-16 | Timothy D. Smith | Under Review |
Information for Reviewers
As well as an indication of compliance with Human Variome Project Standards and Guidelines, Recommended System Status is an indication of the system’s usability, reliability and uptake. In order to gain as wide as possible perspective on these issues, the Human Variome Project places a strong weight on the views of the human genomics and genetics community. To provide guidance on community views, the International Scientfic Advisory Committee will invite at least three individuals to review each system under consideration and provide comments and a recommendation to the Committee.
The reviewers, in preparing their comments, are asked to consider:
- the compatibility of the system with other Recommended Systems;
- the usability and relevance of the system;
- the reliability and robustness of the system;
- the availability of system documentation and training materials; and
- the extent to which the system is currently being utilised.
When providing their comments to the International Scientific Advisory Committee, reviewers are also asked to make a recommendation: approve the application, ask the applicant to reapply if the issues raised in the comments are addressed, or decline the application.
Open Review
As part of its commitment to the free and open sharing of information, the Human Variome Project makes use of open peer review for Recommended System Status. Reviewers are asked to sign their comments and include basic information on where they are employed. Like other peer review programs, reviewers are also required to declare any competing interests or conflicts of interest that you may possess or be perceived to possess.
Reviewers are expected to conduct themselves in accordance with the values of the Human Variome Project.
