This scientometric review of genome-wide association studies (GWAS) from 2005 to 2018
(3639 studies; 3508 traits) reveals extraordinary increases in sample sizes, rates of …

Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

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 …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …

Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

Understanding how human genetics influence infectious disease susceptibility offers the
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …

Advances in the sequencing and the analysis of the genomes of both modern and ancient
peoples have facilitated a number of breakthroughs in our understanding of human …

Southern Africa is consistently placed as a potential region for the evolution of Homo
sapiens. We present genome sequences, up to 13x coverage, from seven ancient …