Bioinformatics and Functional Genomics 3rd Edition

Chapter 21: Human Disease

In this chapter we describe human disease from the perspectives of bioinformatics and genomics. We introduce four main categories: single gene (monogenic) disease, complex disease, genomic disease, and environmental disease. We next describe major disease databases including Online Mendelian Inheritance in Man (OMIM) and the hundreds of locus-specific disease databases. A variety of approaches have been adopted to find disease-causing genes: linkage and genome-wide association analysis, chromosomal analyses such as SNP arrays, and next-generation sequencing. We discuss human disease studies in model organisms, and conclude with the functional classification of human disease genes.