[HTML][HTML] Machine Learning to Advance Human Genome-Wide Association Studies

RE Sigala, V Lagou, A Shmeliov, S Atito, S Kouchaki… - Genes, 2023 - mdpi.com
Machine learning, including deep learning, reinforcement learning, and generative artificial
intelligence are revolutionising every area of our lives when data are made available. With …

RubricOE: a learning framework for genetic epidemiology

S Saha, A Guzmán-Sáenz, A Bose, F Utro, DE Platt… - medRxiv, 2021 - medrxiv.org
Genetic epidemiology is a growing area of interest in the past years due to the availability of
genetic data with the decreasing cost of sequencing. Machine learning (ML) algorithms can …

isGWAS: ultra-high-throughput, scalable and equitable inference of genetic associations with disease

CN Foley, Z Kuncheva, RE Marioni, H Runz, BB Sun - bioRxiv, 2023 - biorxiv.org
Genome-wide association studies (GWAS) have proven a powerful tool for human
geneticists to generate biological insights or hypotheses for drug discovery. Nevertheless, a …

[HTML][HTML] Reaching the end-game for GWAS: machine learning approaches for the prioritization of complex disease loci

HL Nicholls, CR John, DS Watson, PB Munroe… - Frontiers in …, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have revealed thousands of genetic loci that
underpin the complex biology of many human traits. However, the strength of GWAS–the …

OpenMendel: a cooperative programming project for statistical genetics

H Zhou, JS Sinsheimer, DM Bates, BB Chu… - Human genetics, 2020 - Springer
Statistical methods for genome-wide association studies (GWAS) continue to improve.
However, the increasing volume and variety of genetic and genomic data make …

networkGWAS: a network-based approach to discover genetic associations

G Muzio, L O'Bray, L Meng-Papaxanthos, J Klatt… - …, 2023 - academic.oup.com
Motivation While the search for associations between genetic markers and complex traits
has led to the discovery of tens of thousands of trait-related genetic variants, the vast …

networkGWAS: A network-based approach for genome-wide association studies in structured populations

G Muzio, L O'Bray, L Meng-Papaxanthos… - …, 2021 - research-collection.ethz.ch
While the search for associations between genetic markers and complex traits has
discovered tens of thousands of trait-related genetic variants, the vast majority of these only …

[HTML][HTML] WikiGWA: an open platform for collecting and using genome-wide association results

J Huang, EY Liu, R Welch, C Willer… - European Journal of …, 2013 - nature.com
The number of discovered genetic variants from genome-wide association (GWA) studies
(GWAS) has been growing rapidly. Centralized efforts such as the National Human Genome …

Causal analyses, statistical efficiency and phenotypic precision through Recall-by-Genotype study design

LJ Corbin, VY Tan, DA Hughes, KH Wade, DS Paul… - bioRxiv, 2017 - biorxiv.org
Genome-wide association studies have been useful in identifying common genetic variants
related to a variety of complex traits and diseases; however, they are often limited in their …

[PDF][PDF] Leveraging omics data to boost the power of genome-wide association studies

Z Lin, KA Knutson, W Pan - Human Genetics and Genomics Advances, 2022 - cell.com
Genome-wide association studies (GWASs) have successfully identified many genetic
variants and risk loci for complex traits and common diseases in the last 15 years. However …