Book Title: A genomic approach to understanding common diseases in human populations

Subtitle: Version 0.1 (Beta). Last updated February 2026. Subject to revisions. Not for public distribution

by Graham Jones

Book Description: This final-year (Year 3) undergraduate textbook introduces students to the principles of genome-wide approaches used to study common polygenic traits. The purpose of the book is to support students in integrating genetic analysis with disease pathology and cell signalling networks so they can understand how findings from genome-wide association studies are translated into improved health outcomes. In the context of widespread access to generative artificial intelligence, the book also provides core concepts that can be used as prompts for further study and deeper analysis in human genomics and common diseases. It begins with an overview of polygenic disease, moves through key methodologies, and concludes with the translation of genome-wide association study outcomes to human health. Designed for a 14-week semester, it serves as a companion to laboratory classes and tutorials and builds on second-year genetics and molecular biology content. The book is organised into five chapters and uses asthma as an illustrative case study to demonstrate how to approach the genetic analysis of polygenic diseases. Rather than providing a comprehensive list of genes identified in genome-wide association studies (GWAS), it uses selected examples to explain analytical approaches. This book aligns with the United Nations Sustainable Development Goal SDG 4 Quality education, supporting inclusive and affordable access to higher educational resources.