A global view of the genetic basis of Alzheimer disease

C Reitz, MA Pericak-Vance, T Foroud… - Nature Reviews …, 2023 - nature.com
The risk of Alzheimer disease (AD) increases with age, family history and informative genetic
variants. Sadly, there is still no cure or means of prevention. As in other complex diseases …

A scientometric review of genome-wide association studies

MC Mills, C Rahal - Communications biology, 2019 - nature.com
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 …

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin… - Nature, 2024 - nature.com
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

H Stranneheim, K Lagerstedt-Robinson… - Genome Medicine, 2021 - Springer
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 …

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 …

The GenomeAsia 100K Project enables genetic discoveries across Asia

Nature, 2019 - nature.com
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 …

Rare coding variant analysis for human diseases across biobanks and ancestries

SJ Jurgens, X Wang, SH Choi, LC Weng, S Koyama… - Nature Genetics, 2024 - nature.com
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Pan-genomics in the human genome era

RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
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 …

A weakly structured stem for human origins in Africa

AP Ragsdale, TD Weaver, EG Atkinson, EG Hoal… - Nature, 2023 - nature.com
Despite broad agreement that Homo sapiens originated in Africa, considerable uncertainty
surrounds specific models of divergence and migration across the continent. Progress is …

A reference panel of 64,976 haplotypes for genotype imputation

Nature genetics, 2016 - nature.com
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 …