The Fundamentals Of Modern Statistical Genetics

The Fundamentals of Modern Statistical Genetics

This book covers the statistical models and methods that are used to understand human genetics, following the historical and recent developments of human genetics. Starting with Mendel’s first experiments to genome-wide association studies, the book describes how genetic information can be incorporated into statistical models to discover disease genes. All commonly used approaches in statistical genetics (e.g. aggregation analysis, segregation, linkage analysis, etc), are used, but the focus of the book is modern approaches to association analysis. Numerous examples illustrate key points throughout the text, both of Mendelian and complex genetic disorders. The intended audience is statisticians, biostatisticians, epidemiologists and quantitatively- oriented geneticists and health scientists wanting to learn about statistical methods for genetic analysis, whether to better analyze genetic data, or to pursue research in methodology. A background in intermediate level statistical methods is required. The authors include few mathematical derivations, and the exercises provide problems for students with a broad range of skill levels. No background in genetics is assumed.

The Fundamentals of Modern Statistical Genetics

Heterogeneity in Statistical Genetics

Heterogeneity, or mixtures, are ubiquitous in genetics. Even for data as simple as mono-genic diseases, populations are a mixture of affected and unaffected individuals. Still, most statistical genetic association analyses, designed to map genes for diseases and other genetic traits, ignore this phenomenon. In this book, we document methods that incorporate heterogeneity into the design and analysis of genetic and genomic association data. Among the key qualities of our developed statistics is that they include mixture parameters as part of the statistic, a unique component for tests of association. A critical feature of this work is the inclusion of at least one heterogeneity parameter when performing statistical power and sample size calculations for tests of genetic association. We anticipate that this book will be useful to researchers who want to estimate heterogeneity in their data, develop or apply genetic association statistics where heterogeneity exists, and accurately evaluate statistical power and sample size for genetic association through the application of robust experimental design.