Evidence map›Paper›PMID 36748709›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

Practical considerations for reinterpretation of individual genetic variants.

Paul S Appelbaum, Sara M Berger, Elly Brokamp, Henry Shelton Brown, Wylie Burke, Ellen Wright Clayton, Barbara J Evans, Rizwan Hamid, Gary E Marchant, Donna M Martin and 9 more

Abstract readEditorial
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024
    Review
  9. Article
  10. 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

19 authors.

Paul S AppelbaumDepartment of Psychiatry, Columbia University Irving Medical Center, New York, NY.
Sara M BergerDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY.
Elly BrokampVanderbilt Genomics Institute, Vanderbilt University Medical Center, Nashville, TN.
Henry Shelton BrownManagement, Policy and Community Health, UT Health School of Public Health, University of Texas Health Science Center at Houston, Austin Regional Campus, Austin, TX.
Wylie BurkeDepartment of Bioethics and Humanities, University of Washington, Seattle, WA.
Ellen Wright ClaytonCenter for Biomedical Ethics and Society, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN; Center for Biomedical Ethics and Society, School of Law, Vanderbilt University, Nashville, TN.
Barbara J EvansLevin College of Law, University of Florida, Gainesville, FL; Wertheim College of Engineering, University of Florida, Gainesville, FL.
Rizwan HamidDivision of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.
Gary E MarchantCenter for Law, Science & Innovation, Sandra Day O'Connor School of Law, Arizona State University, Phoenix, AZ.
Donna M MartinDepartments of Pediatrics and Human Genetics, University of Michigan Medical School, Ann Arbor, MI.
Bridget C O'ConnorDepartment of Pediatrics, University of Michigan, Ann Arbor, MI.
José A PagánDepartment of Public Health Policy and Management, School of Global Public Health, New York University, New York, NY.
Erik ParensHastings Center Initiative in Bioethics, The Hastings Center, Garrison, NY.
Jessica L RobertsHealth Law & Policy Institute Humanities, University of Houston Law Center, Houston, TX; College of Medicine, University of Houston, Houston, TX.
John RoweDepartment of Health Policy and Management, Mailman School of Public Health, Columbia University, New York, NY.
John SchneiderAvalon Health Economics LLC, Morristown, NJ.
Karolynn SiegelDepartment of Sociomedical Sciences, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY.
David L VeenstraThe Comparative Health Outcomes, Policy and Economics (CHOICE) Institute, School of Pharmacy, University of Washington, Seattle, WA.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY. Electronic address: wkc15@columbia.edu.

Funding

Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
Development of recommendations and policies for genetic variant reclassificationR01HG010365 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART, CHUNG, WENDY K · 2018 to 2021
$2.9M
NHGRI NIH HHS R01 HG010365NHGRI NIH HHS RM1 HG007257
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Predisposition to DiseaseGenetic TestingHumans

Identifiers

PMID36748709
PMCPMC10408279

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.