Genetic Architecture of Human Complex Diseases

Dear Colleagues,

Human complex diseases are affected by a large number of genetic variations and environmental factors collectively. Deciphering the genetic architecture of human complex diseases has been a critical field to understanding the disease mechanism and developing novel treatments. Genome-Wide Association Studies (GWASs) have been a powerful tool to successfully uncover hundreds of thousands of genetic variants that are associated with complex disease risk. However, it remains challenging to interpret the functions of those variants, understand how their involved pathways confer the disease risk, and translate the findings into clinical practice. In response to these challenges, enormous resources, including biobank-scale GWASs, the curation of large-scale RNA-seq cohorts, and new statistical/computational methods, have been developed in the last decade. Molecular quantitative trait loci (molQTLs) are derived from the associations between genotype and molecular profiles such as gene expression, DNA methylation, and chromatin accessibility. Integrating GWASs with molQTLs has been a popular way to reveal the biological function of GWAS loci. In addition, single-cell technology has been rapidly developed which enables the identification of genetic regulatory mechanisms at the cell-type-specific resolution. Leveraging biobank-scale GWASs and population-level molQTL summary statistics will provide a comprehensive functional genomic map and refine our knowledge about human complex diseases, offering hope of better treatment.

This Special Issue focuses on the latest advances in the genetic architecture of human complex diseases that help to dissect the disease mechanism at all levels. We are looking for original research articles, reviews, and perspectives on all relevant topics. Studies that include biobank-scale datasets, multi-omics integration, single-cell technology, and new computational/bioinformatics tools will be given priority.

Dr. Angli Xue
Guest Editor

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• complex diseases
• genetic architecture
• GWAS
• quantitative genetics
• statistical genetics
• population genetics
• eQTL
• molQTL
• multi-omics
• computational biology
• bioinformatics
• single-cell
• biobank