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 …
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 …
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 …
statistical challenges for their data analysis, including knowledge discovery, interpretability …
GWASdb: a database for human genetic variants identified by genome-wide association studies
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 …
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
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 …
role in genetic and epigenetic regulation. It has become increasingly important to …
Integration of omics and phenotypic data for precision medicine
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 …
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 …
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
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 …
underpin the complex biology of many human traits. However, the strength of GWAS–the …
Advances in AI and machine learning for predictive medicine
The field of omics, driven by advances in high-throughput sequencing, faces a data
explosion. This abundance of data offers unprecedented opportunities for predictive …
explosion. This abundance of data offers unprecedented opportunities for predictive …
Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective
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 …
human genetics and genomics to provide insights to key questions that build therapeutic …