Topic · Genetics · Biochemistry, Genetics and Molecular Biology

Race, Genetics, and Society

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

10 papers

Development and assessment of tailored illustrations to enhance community understandings of genetics topics

Audrey M. Arner, Tobias C. McCabe, Amanda Seyler, Siti Nurani Zamri, Tan Bee Ting A P Tan Boon Huat, Kar Lye Tam, Patriciah Kinyua, Echwa John, Sospeter Ngoci Njeru, Yvonne AL Lim, Michael Gurven, Colin Nicholas, Julien F. Ayroles, Vivek Vasi Venkataraman, Thomas S. Kraft, , Amanda J. Lea

The paper develops and evaluates tailored illustrations to improve community understanding of genetics concepts through iterative feedback and analysis of engagement patterns.

American Journal of Biological Anthropology · Jul 1, 2026Peer-reviewedScientific Communication & Education

Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder Views

Jessica Prettyman, Thomas J. Hoffmann, Sawona Biswas, Aleksandar Rajkovic

This study evaluates genetic ancestry report concordance across providers, compares ancestry to self-identified race/ethnicity, and explores perspectives on integrating ancestry data into EHRs.

Journal of Community Genetics · Apr 1, 2026Peer-reviewedGenetic & Genomic Medicine

Dynamic clustering of genomics cohorts beyond race, ethnicity--and ancestry

Hussein Mohsen, Kim Blenman, Prashant S. Emani, Quaid Morris, Jian Carrot‐Zhang, Lajos Pusztai

The paper introduces a dynamic clustering approach for genomics cohorts based on trait-specific genomic signals, revealing patterns beyond predefined racial or continental categories.

BMC Medical Genomics · May 15, 2025Peer-reviewedGenomics

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines

Kristjan Eerik Kaseniit, Imran S. Haque, James D. Goldberg, LEE P. SHULMAN, Dale Muzzey

This study analyzes genetic ancestry in 93,419 individuals to show that ethnicity-based carrier-screening guidelines are incomplete and miss carriers in at-risk populations.

Genetics in Medicine · Jun 28, 2020Peer-reviewedGenetic & Genomic Medicine

Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures

Alice B. Popejoy, Kristy Crooks, Stephanie Malia Fullerton, Lucia A. Hindorff, Gillian W. Hooker, Barbara Ann Koenig, Natalie Pino, Erin M. Ramos, Deborah Ritter, Hannah Wand, Matt W. Wright, Michael Yudell, James Zou, Sharon E. Plon, Carlos D. Bustamante, Kelly E. Ormond

The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.

The American Journal of Human Genetics · Jun 5, 2020Peer-reviewedGenetic & Genomic Medicine

Current clinical use of polygenic scores will risk exacerbating health disparities

Alicia R. Martin, Masahiro Kanai, Yoichiro Kamatani, Yukinori Okada, Benjamin M. Neale, Mark J. Daly

Eurocentric GWAS make polygenic scores less accurate in non-Europeans (mean 4.9-fold lower for UK Biobank Africans); equal-sized ancestry-matched GWAS predict better in Japanese and British individuals.

Nature Genetics · Mar 29, 2019Peer-reviewedGenetics✦ In-depth digest

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

Alice B. Popejoy, Deborah Ritter, Kristy Crooks, Erin Currey, Stephanie Malia Fullerton, Lucia A. Hindorff, Barbara Ann Koenig, Erin M. Ramos, Elena P. Sorokin, Hannah Wand, Matt W. Wright, James Zou, Christopher R. Gignoux, Vence L. Bonham, Sharon E. Plon, Carlos D. Bustamante

The paper analyzes REA data collection practices and disparities in gnomAD, highlighting the need for standardized frameworks to improve diversity and variant interpretation in clinical genomics.

Human Mutation · Oct 11, 2018Peer-reviewedGenomics

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Joannella Morales, Danielle Welter, Emily Bowler-Barnett, María Cerezo, Laura Wiseman Harris, Aoife McMahon, Peggy Hall, Heather Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, , Jacqueline A. L. MacArthur

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.

Genome biology · Feb 15, 2018Peer-reviewedGenetics

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

R. Shraga, Sarah Yarnall, Sonya Elango, Arun Prasad Manoharan, Sally Ann Rodriguez, Sara L. Bristow, Neha Kumar, Mohammad Niknazar, David I. Hoffman, Shahin Ghadir, Rita Vassena, Serena H. Chen, Avner Hershlag, JAMIE A. GRIFO, Óscar Puig

The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.

BMC Genetics · Nov 27, 2017Peer-reviewedGenetics

Biogeographic Ancestry and Socioeconomic Outcomes in the Americas: a Meta-analysis

Emil O. W. Kirkegaard, Mingrui Wang, John G. R. Fuerst

The paper conducts a meta-analysis of 41 studies to examine the association between biogeographic ancestry and socioeconomic status in the Americas, finding consistent directional relationships.

Mankind Quarterly · Jan 1, 2017Peer-reviewedGenomics