Mandatory variant submission—Our experiences
✍ Scribed by Johan den Dunnen; Garry R. Cutting; Mark H. Paalman
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 82 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Human Mutation regularly updates its author guidelines for submitting manuscripts. One of the most recent changes was the requirement to submit sequence variants to a gene variant database (LSDB). The goal is to make publicly available as much genome variation data as possible for the benefit of the human genetics community. Over the last year, the Journal has established a process to verify that authors fulfill this obligation.
During the pilot phase in 2011, we asked for the submission of novel variants only. Human Mutation will now require that all variants from a manuscript be submitted to online LSDBs. At the most recent Human Variome Project (HVP) Genetics Journal Editors Meeting (13 October 2011 in Montreal, Canada), the issue of submission was discussed, with Human Mutation given as an example. All present agreed that other journals should consider revising their Author's Instructions to include mandatory variant submission.
Author response to the submission policy has been very positive. Although submission is often new for authors, LSDB managers are helpful in solving initial problems. If an LSDB is lacking, one can be created within 48 hours. Authors receive instructions and help with submission (e.g., with batch uploads of their data). Submitted variants are verified by LSDB curators and errors and inconsistencies are corrected. Reduction in the need to submit Errata after publication in order to correct variant-naming errors is a key benefit this process offers for both authors and readers of Human Mutation.