[HTML][HTML] Statistical learning of large-scale genetic data: How to run a genome-wide association study of gene-expression data using the 1000 Genomes Project data

A Sugolov, E Emmenegger, AD Paterson, L Sun - Statistics in Biosciences, 2024 - Springer
Teaching statistics through engaging applications to contemporary large-scale datasets is
essential to attracting students to the field. To this end, we developed a hands-on, week-long …

[PDF][PDF] Towards Deep Learning in genome-Wide Association Interaction studies.

S Uppu, A Krishna, RP Gopalan - PACIS, 2016 - core.ac.uk
The complexity of phenotype-genotype mapping are characterised by non-linear
interactions between gene-gene and gene-environmental factors. These interaction studies …

[HTML][HTML] Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies

E Manduchi, PR Orzechowski, MD Ritchie, JH Moore - BioData Mining, 2019 - Springer
Background The principal line of investigation in Genome Wide Association Studies (GWAS)
is the identification of main effects, that is individual Single Nucleotide Polymorphisms …

Deep learning of genomic variation and regulatory network data

A Telenti, C Lippert, PC Chang… - Human molecular …, 2018 - academic.oup.com
The human genome is now investigated through high-throughput functional assays, and
through the generation of population genomic data. These advances support the …

An integrated platform to systematically identify causal variants and genes for polygenic human traits

DJ Downes, R Schwessinger, SJ Hill, L Nussbaum… - BioRxiv, 2019 - biorxiv.org
Genome-wide association studies (GWAS) have identified over 150,000 links between
common genetic variants and human traits or complex diseases. Over 80% of these …

Machine learning in genome‐wide association studies

S Szymczak, JM Biernacka, HJ Cordell… - Genetic …, 2009 - Wiley Online Library
Recently, genome‐wide association studies have substantially expanded our knowledge
about genetic variants that influence the susceptibility to complex diseases. Although …

The MR-Base platform supports systematic causal inference across the human phenome

G Hemani, J Zheng, B Elsworth, KH Wade… - elife, 2018 - elifesciences.org
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …

[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Methods for large-scale genome-wide association studies

G Kalantzis - 2022 - ora.ox.ac.uk
Genome-wide association studies (GWAS) have led to the identification of thousands of
associations between genetic polymorphisms and complex traits or diseases, facilitating …

[HTML][HTML] Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits

JMW Pavlides, Z Zhu, J Gratten, AF McRae, NR Wray… - Genome medicine, 2016 - Springer
Genome-wide association studies (GWAS) have identified hundreds of genetic variants
associated with complex traits and diseases. However, elucidating the causal genes …