Evidence map›Paper›PMID 33252176›Full record

GuidelineHuman mutation2021

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 and 11 more

Abstract readGuideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Jan HigginsAmerican College of Medical Genetics and Genomics, Bethesda, Maryland, USA.ORCID 0000-0002-5342-382X
Raymond DalgleishDepartment of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Johan T den DunnenHuman Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Greg BarshHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Peter J FreemanDivision of Informatics, Imaging & Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
David N CooperInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Sara CullinanAmerican Society of Human Genetics, Rockville, Maryland, USA.
Kay E DaviesDepartment of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
Huw DorkinsSt Peter's College, University of Oxford, Oxford, UK.
Li GongDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Issei ImotoDivision of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan.
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Bruce KorfDepartment of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Adya MisraPublic Library of Science, San Francisco, California, USA.
Mark H PaalmanCell and Molecular Biology Research, Wiley Periodicals LLC, Hoboken, New Jersey, USA.ORCID 0000-0002-2568-0394
Sarah RatzelAmerican Society of Human Genetics, Rockville, Maryland, USA.
Juergen K V ReichardtAustralian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia.
Heidi L RehmMedical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Katsushi TokunagaDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Karen E WeckDepartment of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Garry R CuttingDepartment of Genetic Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9M
PharmGKB: pharmacogenomics knowledge for precision medicineR24GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO, KLEIN, TERI ELLEN · 2010 to 2018
$25.2M
PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
MOLECULAR GENETICS OF CYSTIC FIBROSISR01DK044003 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI Garry R Cutting · 1991 to 2026
$6.7M
NHGRI NIH HHS U24 HG010615NHGRI NIH HHS U41 HG006834NIDDK NIH HHS R01 DK044003NIGMS NIH HHS R24 GM061374
6 · The paper itself

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.

Indexed as

DNAGenome, HumanPeriodicals as TopicTerminology as TopicGenetic VariationHuman Genome ProjectHumansPilot ProjectsPublicationsDNAClinVarDNA variantsHuman Genome Variation SocietyLeiden Open Variation Database

Identifiers

PMID33252176
PMCPMC7961887

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.