Bioinformatics for Geneticists: A Bioinformatics Primer for the Analysis of Genetic Data

This book, now in its second edition for more than a year, is positioned at the intersection of disciplines including genetics, bioinformatics (the melding of computer science and biology), biomedical research, and molecular biology.Over 19 chapters, the authors cover an impressive terrain.The focus is mainly on human genetics and genomics, with research in other species also presented, particularly where it supports and advances our understanding of human genetics.Although a thoughtful discussion of the relevant literature and techniques is found in each chapter, the book is not overly technical and does not present advanced mathematical, statistical, or genetic concepts in great depth.Instead, the focus is on practical applications, available tools, software, and databases, and the presentation of supporting real world research examples.The end result is one of the best available and most accessible texts on bioinformatics and genetics in the postgenome age.This book is recommended for at least 4 groups of individuals: (1) geneticists, who may gain knowledge of tools to increase the speed, breadth, and depth of their research and help in navigating the vast space of available browsers and databases; (2) bioinformaticians, often trained in specific subdisciplines and sometimes lacking the vocabulary to communicate with geneticists, will gain a working understanding of major issues in genetics and likely discover new bioinformatics tools they were unaware of;(3) molecular scientists, who will gain valuable insight into bioinformatics solutions and databases that may both inspire and make more efficient the design and analysis of new laboratory investigations; and (4) clinicians, who will gain a wider understanding of current approaches in molecular genetics and genomics to better work in interdisciplinary teams aimed at advancing genetics and genomics research into the basis of human disease and related traits.The book is organized into 5 sections: (1) a brief introductory section; (2) a section providing an overview of genes and genomes and tools related to each; (3) a section focused on genetic study design, analysis, and association; (4) a section dealing with moving from genetic associations to the pursuit of functional and molecular explanations; and (5) a final section addressing genome scale research.This edition of the book arrived near the beginning of a period of near exponential growth in whole genome/genetic association studies hampering the authors' ability to comment on most of these findings.Thus, the book does not provide the most current resources in this arena.For example, it does not highlight the use of imputation methods and bioinformatics tools like PLINK 1 and SNAP. 2 Nonetheless, the authors showed foresight in including a chapter titled "Needle in a Haystack?Dealing With 500,000 SNP Genome Scans," which explores many important concepts and approaches using an early GWAS dataset.Despite being a year or more