A roadmap to increase diversity in genomic studies

S Fatumo, T Chikowore, A Choudhury, M Ayub… - Nature medicine, 2022 - nature.com
Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Stroke in Africa: profile, progress, prospects and priorities

RO Akinyemi, B Ovbiagele, OA Adeniji… - Nature Reviews …, 2021 - nature.com
Stroke is a leading cause of disability, dementia and death worldwide. Approximately 70% of
deaths from stroke and 87% of stroke-related disability occur in low-income and middle …

From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

High-depth African genomes inform human migration and health

A Choudhury, S Aron, LR Botigué, D Sengupta… - Nature, 2020 - nature.com
The African continent is regarded as the cradle of modern humans and African genomes
contain more genetic variation than those from any other continent, yet only a fraction of the …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

EG Atkinson, AX Maihofer, M Kanai, AR Martin… - Nature …, 2021 - nature.com
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …

Genomics of disease risk in globally diverse populations

D Gurdasani, I Barroso, E Zeggini… - Nature Reviews …, 2019 - nature.com
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …

From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …