Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Jan Higgins; Raymond Dalgleish; Johan T den Dunnen; Greg Barsh; Peter J Freeman; David N Cooper; Sara Cullinan; Kay E Davies; Huw Dorkins; Li Gong; Issei Imoto; Teri E Klein; Bruce Korf; Adya Misra; Mark H Paalman; Sarah Ratzel; Juergen K V Reichardt; Heidi L Rehm; Katsushi Tokunaga; Karen E Weck; Garry R Cutting

doi:10.1002/humu.24144

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10.

Authors

Jan Higgins¹, Raymond Dalgleish², Johan T den Dunnen³, Greg Barsh^{4

5}, Peter J Freeman⁶, David N Cooper⁷, Sara Cullinan⁸, Kay E Davies⁹, Huw Dorkins^{10

11}, Li Gong¹², Issei Imoto¹³, Teri E Klein¹², Bruce Korf¹⁴, Adya Misra^{15

16}, Mark H Paalman¹⁷, Sarah Ratzel⁸, Juergen K V Reichardt¹⁸, Heidi L Rehm^{19

20

21}, Katsushi Tokunaga^{12

22}, Karen E Weck^{23

24}, Garry R Cutting²⁵

Affiliations

¹ American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
² Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
³ Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁴ HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
⁵ Department of Genetics, Stanford University, Stanford, California, USA.
⁶ Division of Informatics, Imaging & Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
⁷ Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
⁸ American Society of Human Genetics, Rockville, Maryland, USA.
⁹ Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
¹⁰ St Peter's College, University of Oxford, Oxford, UK.
¹¹ Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.
¹² Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
¹³ Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan.
¹⁴ Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
¹⁵ Public Library of Science, San Francisco, California, USA.
¹⁶ Public Library of Science, Cambridge, UK.
¹⁷ Cell and Molecular Biology Research, Wiley Periodicals LLC, Hoboken, New Jersey, USA.
¹⁸ Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia.
¹⁹ Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
²⁰ Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
²¹ Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
²² Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
²³ Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
²⁴ Department of Genetics and Medicine, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
²⁵ Department of Genetic Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Abstract

Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify that variants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation.

Keywords: ClinVar; DNA variants; Human Genome Variation Society; Leiden Open Variation Database.

Publication types

Guideline
Research Support, N.I.H., Extramural

MeSH terms

DNA* / genetics
Genetic Variation
Genome, Human*
Human Genome Project
Humans
Periodicals as Topic* / standards
Pilot Projects
Publications / standards
Terminology as Topic*

Substances

DNA

Abstract

Publication types

MeSH terms

Substances

Grants and funding