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The need for precision in scientific communication is long established. In genetics, one area in which it is particularly important that information be communicated accurately is the reporting of DNA variants. Over the past 2 years, a working group convened by the Human Variome Project has considered what requirements might reasonably be made of authors to verify that descriptions of variants submitted for publication comply with a widely accepted standard.
Two journals undertook a pilot study to test the feasibility of a requirement that authors verify compliance of their variant descriptions to Human Genome Variation Society (HGVS) standards through the use of a standard tool such as Mutalyzer or …
Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; internally peer reviewed.