[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
… , including the collection of DNA and phenotypic information … using power calculations in
software tools such as CaTS 14 … 132 and performing large-scale experimental perturbation of …

[HTML][HTML] Interpreting population-and family-based genome-wide association studies in the presence of confounding

C Veller, GM Coop - PLoS Biology, 2024 - journals.plos.org
… are a clear step forward towards quantifying genetic effects, with large-scale family studies
… across 1,000 replicate trials, with the effect size estimates then pooled across trials. From …

Genome-wide association studies

A Dehghan - Genetic Epidemiology: Methods and Protocols, 2018 - Springer
… This approach examines the whole genome in an agnostic system for regions where DNA
… The fraction indicates the abundance of the less common variant in the pool of alleles in the …

[PDF][PDF] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
… Genetic ancestry is estimated from DNA and provides informa… when samples are pooled
from different research sites or … these factors into large-scale genetic studies. Appropriate …

[HTML][HTML] Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

J Wang, T Skoog, E Einarsdottir, T Kaartokallio… - Scientific reports, 2016 - nature.com
… variant detection tools with two sets of pooled whole exome … pooling strategy can thus be
a rapid and cost-effective approach for the initial screening in large-scale association studies

… tools: a SNP linkage disequilibrium Map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies

M Francisco, D Dailey, J Ziegle, J Williams… - …, 2024 - Taylor & Francis
association studies and candidate region association studies. … Currently this selected
SNP pool includes about 1 000 000 … most precious reagent is the DNA sample itself. High-quality …

[HTML][HTML] Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach

P Kotnik, E Knapič, J Kokošar, J Kovač… - International Journal of …, 2018 - nature.com
… One large-scale meta-analysis study in adults identified six previously unknown loci …
Meta-analysis of genome-wide association studies identifies six new loci for serum calcium. …

Benchmarking the performance of Pool‐seq SNP callers using simulated and real sequencing data

S Guirao‐Rico, J González - Molecular Ecology Resources, 2021 - Wiley Online Library
… technologies and bioinformatics tools allow population … large-scale population studies but
also in cases where the … , we simulated 100-kb long DNA sequence by randomly sampling …

Pooled-DNA sequencing for elucidating new genomic risk factors, rare variants underlying Alzheimer's disease

SC Jin, BA Benitez, Y Deming, C Cruchaga - Systems Biology of …, 2016 - Springer
… Analyses of genome-wide association studies (GWAS) for … for low-cost large scale rare-variant
detection makes pooled-DNA … Our recent work has demonstrated that pooled-DNA

Imputation-aware tag SNP selection to improve power for large-scale, multi-ethnic association studies

GL Wojcik, C Fuchsberger, D Taliun… - G3: Genes …, 2018 - academic.oup.com
… multi-population pool; and a ‘… large-scale multi-ethnic epidemiological studies become more
commonplace, it will be important to have available platforms with built in trans-ethnic utility. …