Evidence map›Paper›PMID 36798092›Full record

ArticleHGG advances2023

Guidelines for genetic ancestry inference created through roundtable discussions.

Jennifer K Wagner, Joon-Ho Yu, Duana Fullwiley, CeCe Moore, James F Wilson, Michael J Bamshad, Charmaine D Royal, Genetic Ancestry Inference Roundtable Participants

Abstract read
In one paragraph

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

8 authors.

Jennifer K WagnerSchool of Engineering Design and Innovation, Pennsylvania State University, University Park, PA 16802, USA.
Joon-Ho YuDepartment of Pediatrics and Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
Duana FullwileyDepartment of Anthropology, Stanford University, Stanford, CA 94305, USA.
CeCe MooreThe DNA Detectives, Dana Point, CA, USA.
James F WilsonCentre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh EH8 9AG, Scotland.
Michael J BamshadDepartment of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Charmaine D RoyalDepartments of African and African American Studies, Biology, Global Health, and Family Medicine and Community Health, Duke University, Durham, NC 27708, USA.
Genetic Ancestry Inference Roundtable Participants

Funding

Public Perspectives and Experience Regarding Genetic Ancestry TestingR01HG006295 · NHGRI · DUKE UNIVERSITY · PI ROYAL, CHARMAINE DAWN MARIE · 2012 to 2015
$1.4M
Multidisciplinary Study of Race Appearance Ancestry Discrimination & PrejudiceR00HG006446 · NHGRI · GEISINGER CLINIC · PI WAGNER, JENNIFER KRISTIN · 2015 to 2017
$747k
Returning Exome and Whole Genome Sequencing Results R00HG007076 · NHGRI · UNIVERSITY OF WASHINGTON · PI YU, JOON-HO · 2017 to 2019
$730k
Genetic Ancestry Inference: Developing Best-Practice GuidelinesR13HG006823 · NHGRI · AMERICAN SOCIETY OF HUMAN GENETICS · PI DOUGHERTY, MICHAEL · 2012 to 2013
$67k
Medical Research Council MC_UU_00007/10NHGRI NIH HHS R00 HG006446NHGRI NIH HHS R00 HG007076NHGRI NIH HHS R01 HG006295NHGRI NIH HHS R13 HG006823
6 · The paper itself

Abstract

The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders toward the development of guidelines for inferring genetic ancestry in academia and industry. This report shares the stakeholder groups' work and provides an analysis of, commentary on, and views from the groundbreaking and sustained dialogue. We describe the engagement processes and the stakeholder groups' resulting statements and proposed guidelines. The guidelines focus on five key areas: application of genetic ancestry inference, assumptions and confidence/laboratory and statistical methods, terminology and population identifiers, impact on individuals and groups, and communication or translation of genetic ancestry inferences. We delineate the terms and limitations of the guidelines and discuss their critical role in advancing the development and implementation of best practices for inferring genetic ancestry and reporting the results. These efforts should inform both governmental regulation and self-regulation.

Indexed as

Biomedical ResearchCommunicationGenomicsHumansELSIgenetic ancestrypopulation descriptorsrace and ethnicity

Identifiers

PMID36798092
PMCPMC9926022

What OpenQuestion holds

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Registered trials

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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.