A roadmap to increase diversity in genomic studies
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 …
advances in genome technologies have resulted in whole-genome sequencing and …
Genome-wide association studies
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 …
across many genomes to find those statistically associated with a specific trait or disease …
Stroke in Africa: profile, progress, prospects and priorities
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 …
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
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 …
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 …
biomedical traits, particularly those related to the onset and progression of human disease …
High-depth African genomes inform human migration and health
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 …
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
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …
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
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …
population structure. Here, we present a statistical framework and software package, Tractor …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
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 …
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …