The Human Pangenome Project: a global resource to map genomic diversity

T Wang, L Antonacci-Fulton, K Howe, HA Lawson… - Nature, 2022 - nature.com
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

A framework for enhancing ethical genomic research with Indigenous communities

KG Claw, MZ Anderson, RL Begay, KS Tsosie… - Nature …, 2018 - nature.com
Integration of genomic technology into healthcare settings establishes new capabilities to
predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples …

Genetic analyses of diverse populations improves discovery for complex traits

GL Wojcik, M Graff, KK Nishimura, R Tao, J Haessler… - Nature, 2019 - nature.com
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …

Analysis of polygenic risk score usage and performance in diverse human populations

L Duncan, H Shen, B Gelaye, J Meijsen… - Nature …, 2019 - nature.com
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …

Genomics is failing on diversity

AB Popejoy, SM Fullerton - Nature, 2016 - nature.com
Genomics is failing on diversity | Nature Skip to main content Thank you for visiting nature.com.
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[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

Prioritizing diversity in human genomics research

LA Hindorff, VL Bonham, LC Brody… - Nature Reviews …, 2018 - nature.com
Recent studies have highlighted the imperatives of including diverse and under-represented
individuals in human genomics research and the striking gaps in attaining that inclusion …

Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice

LG Landry, N Ali, DR Williams, HL Rehm… - Health Affairs, 2018 - healthaffairs.org
Precision medicine is predicted to revolutionize the clinical practice of medicine, in part by
using molecular biomarkers to assess patients' risk, prognosis, and therapeutic response …

Conceptualization, operationalization, and utilization of race and ethnicity in major epidemiology journals, 1995–2018: A systematic review

RAM Martinez, N Andrabi, AN Goodwin… - American Journal of …, 2023 - academic.oup.com
Despite repeated calls by scholars to critically engage with the concepts of race and
ethnicity in US epidemiologic research, the incorporation of these social constructs in …

Diversity and inclusion in genomic research: why the uneven progress?

AR Bentley, S Callier, CN Rotimi - Journal of community genetics, 2017 - Springer
Conducting genomic research in diverse populations has led to numerous advances in our
understanding of human history, biology, and health disparities, in addition to discoveries of …