Population Genomics in the Developing World: Concepts, Applications, and Challenges, a new volume in the Translational and Applied Genomics series, provides a comprehensive, up-to-date summary of the field of population genomics in developing countries. This book equips students, researchers, and clinicians with the practical skills and approaches necessary to face the unique challenges and opportunities of practicing population genomics in developing countries. Following a brief foundational overview, more than a dozen authors working in developing nations share applied case studies from the field, including rationale, methods, analysis, and outcomes to reinforce understanding. Key themes across the country-specific chapters include efficient genetic data generation and effective computational and statistical tools to analyze population-level data. This book then discusses clinical interpretation of these data, from direct-to-consumer ancestry testing to translational and applied precision medicine. A final chapter considers the ethical aspects of conducting genomic research in developing countries.
Table of Contents
1. Population genomics The fundamentals2. Why focus on population genomics in developing countries?
3. Contribution of large consortia studies to population genomics in the developing world: Examples from Africa and South Asia
4. Implementing genomics research in developing countries: Common challenges, and emerging solutions
5. Next-generation sequencing technologies: Implementation in developing countries
6. Computational disease-risk prediction: Tools and statistical approaches
7. Genotype versus phenotype versus environment
8. Implementing population pharmacogenomics: Tailoring drug therapy for diverse populations
9. Direct-to-consumer genetic testing and the population genomics industry
10. Clinical translation of genetic research in Africa Mainstreaming medical ethics, education, equity, and public engagement
11. The future of population genomics in developing countries
Authors
Marlo M�ller SAMRC Centre for Tuberculosis Research, DSI/NRF Centre of Excellence for Biomedical TB Research, Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University; Associate Member, Centre for Bioinformatics and Computational Biology, Stellenbosch University, South Africa.Dr. Marlo M�ller's primary research focuses on finding the genetic underpinnings of tuberculosis (TB). She developed an interest in this field at the beginning of her postgraduate degrees and continued this focus throughout her postdoctoral studies. She is currently an Associate Professor at Stellenbosch University, in Stellenbosch, South Africa. Her investigations into the genetic contribution of the human host to individual and population susceptibility to tuberculosis include tuberculous meningitis, tuberculosis resisters, the role of ancestry in tuberculosis disease, and primary immunodeficiencies. Dr. M�ller's work leverages the complex ancestry of the admixed people in South Africa, specifically the unique genetic contribution from hunter-gatherer ancestry, to find novel genes and pathways involved in TB resistance and susceptibility.
Caitlin Uren Post-Doctoral Fellow: Department of Biomedical Sciences and Associate Member: Centre for Bioinformatics and Computational BiologyDSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences.Dr. Caitlin Uren currently works in the fields of human population genetics, bioinformatics, and communicable and noncommunicable diseases. Her initial research focused on identifying and characterizing genetic population structure in southern African human populations. This information was then used in the development of novel computational pipelines. In addition, she has been involved in the analysis of next-generation sequencing data with the goal to provide a molecular diagnosis to patients with suspected genetic disorders. She is currently involved in numerous projects that encompass data repositories, bioethics, bioinformatics, pharmacogenetics, and population genetics. As an early-career researcher, it is her goal to further the human genetics field in Africa and to teach and guide the next generation of scientists.
