Your browser doesn't support javascript.
loading
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Higgins, Jan; Dalgleish, Raymond; den Dunnen, Johan T; Barsh, Greg; Freeman, Peter J; Cooper, David N; Cullinan, Sara; Davies, Kay E; Dorkins, Huw; Gong, Li; Imoto, Issei; Klein, Teri E; Korf, Bruce; Misra, Adya; Paalman, Mark H; Ratzel, Sarah; Reichardt, Juergen K V; Rehm, Heidi L; Tokunaga, Katsushi; Weck, Karen E; Cutting, Garry R.
Affiliation
  • Higgins J; American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
  • Dalgleish R; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • den Dunnen JT; Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Barsh G; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Freeman PJ; Department of Genetics, Stanford University, Stanford, California, USA.
  • Cooper DN; Division of Informatics, Imaging & Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Cullinan S; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Davies KE; American Society of Human Genetics, Rockville, Maryland, USA.
  • Dorkins H; Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
  • Gong L; St Peter's College, University of Oxford, Oxford, UK.
  • Imoto I; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.
  • Klein TE; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
  • Korf B; Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan.
  • Misra A; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
  • Paalman MH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Ratzel S; Public Library of Science, San Francisco, California, USA.
  • Reichardt JKV; Public Library of Science, Cambridge, UK.
  • Rehm HL; Cell and Molecular Biology Research, Wiley Periodicals LLC, Hoboken, New Jersey, USA.
  • Tokunaga K; American Society of Human Genetics, Rockville, Maryland, USA.
  • Weck KE; Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia.
  • Cutting GR; Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Hum Mutat ; 42(1): 3-7, 2021 01.
Article in En | MEDLINE | ID: mdl-33252176
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.
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Periodicals as Topic / DNA / Genome, Human / Terminology as Topic Type of study: Guideline Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Periodicals as Topic / DNA / Genome, Human / Terminology as Topic Type of study: Guideline Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication: