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 …

A bioinformatics crash course for interpreting genomics data

DM Rotroff - Chest, 2020 - Elsevier
Reductions in genotyping costs and improvements in computational power have made
conducting genome-wide association studies (GWAS) standard practice for many complex …

Automated machine learning for genome wide association studies

K Lakiotaki, Z Papadovasilakis, V Lagani… - …, 2023 - academic.oup.com
Motivation Genome-wide association studies (GWAS) present several computational and
statistical challenges for their data analysis, including knowledge discovery, interpretability …

GWASdb: a database for human genetic variants identified by genome-wide association studies

MJ Li, P Wang, X Liu, EL Lim, Z Wang… - Nucleic acids …, 2012 - academic.oup.com
Recent advances in genome-wide association studies (GWAS) have enabled us to identify
thousands of genetic variants (GVs) that are associated with human diseases. As next …

Scalable approaches for functional analyses of whole-genome sequencing non-coding variants

PP Kuksa, E Greenfest-Allen, J Cifello… - Human Molecular …, 2022 - academic.oup.com
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …

Integration of omics and phenotypic data for precision medicine

J Zhao, QP Feng, WQ Wei - Systems Medicine, 2022 - Springer
Over the past two decades, biomedical research is moving toward a big-data-driven
approach. The underlying causes of this transition include the ability to gather genetic or …

From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …

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 …

Advances in AI and machine learning for predictive medicine

A Sharma, A Lysenko, S Jia, KA Boroevich… - Journal of Human …, 2024 - nature.com
The field of omics, driven by advances in high-throughput sequencing, faces a data
explosion. This abundance of data offers unprecedented opportunities for predictive …

Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective

EM McDonagh, G Trynka, M McCarthy… - Annual Review of …, 2024 - annualreviews.org
Open Targets, a consortium among academic and industry partners, focuses on using
human genetics and genomics to provide insights to key questions that build therapeutic …