[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing

R Mathur, F Fang, N Gaddis, DB Hancock… - Communications …, 2022 - nature.com
Genome-wide association studies (GWAS) have made impactful discoveries for complex
diseases, often by amassing very large sample sizes. Yet, GWAS of many diseases remain …

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Importance of including non-European populations in large human genetic studies to enhance precision medicine

D Ju, D Hui, DA Hammond, A Wonkam… - Annual review of …, 2022 - annualreviews.org
One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

Genome-wide association studies: hypothesis-“free” or “engaged”?

GD Kitsios, E Zintzaras - Translational Research, 2009 - Elsevier
The advent of the first wave of genome-wide association studies (GWAS) provided a new
conceptual framework in the search for variants underlying common disorders: a massive …

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

A Buniello, JAL MacArthur, M Cerezo… - Nucleic acids …, 2019 - academic.oup.com
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …

Genetic associations of protein-coding variants in human disease

BB Sun, MI Kurki, CN Foley, A Mechakra, CY Chen… - Nature, 2022 - nature.com
Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

JC Denny, L Bastarache, MD Ritchie, RJ Carroll… - Nature …, 2013 - nature.com
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …

15 years of genome-wide association studies and no signs of slowing down

RJF Loos - Nature communications, 2020 - nature.com
Over the past 15 years, genome-wide association studies (GWASs) have generated a
wealth of new information. Larger samples sizes, refined phenotypes and higher-resolution …

Genome-wide association studies: results from the first few years and potential implications for clinical medicine

JN Hirschhorn, ZKZ Gajdos - Annual review of medicine, 2011 - annualreviews.org
Most common diseases and quantitative traits are heritable: determined in part by genetic
variation within the population. The inheritance is typically polygenic in that combined effects …