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New book offers practical advice for unraveling the genetics of complex human diseases

September 14th, 2009
New book offers practical advice for unraveling the genetics of complex human diseases
The cover of Genetics of Complex Human Diseases shows (top right) a triangle plot showing the linkage disequilibrium relationships of single-nucleotide polymorphisms (SNPs) as visualized using Haploview software, (lower left) quality control of SNP genotyping with data from the Sequenom MassArray reaction, and (lower right) the confounding of recombination and penetrance in a pedigree segregating an autosomal dominant susceptibility locus. Credit: Cold Spring Harbor Laboratory Press

Many human diseases—including Alzheimer's disease, schizophrenia, cancer, and cardiovascular disease—are caused by multiple genetic variants and the interaction of those variants with the environment. Because such diseases lack a clear-cut inheritance pattern, sophisticated technological approaches and statistical analyses are required to determine their underlying cause. These approaches and their theoretical basis are the subject of a new book published by Cold Spring Harbor Laboratory Press, Genetics of Complex Human Diseases: A Laboratory Manual.

The book is edited by Ammar Al-Chalabi (MRC Centre for Neurodegeneration Research, King's College London) and Laura Almasy (Southwest Foundation for Biomedical Research, San Antonio, Texas), the lead instructors of the Genetics of Complex Human Diseases course, which is held every other year at Cold Spring Harbor Laboratory. Each chapter is contributed by a former speaker at the course.

"In putting this book together, we have aimed to bring together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin them," write the editors in the introductory chapter of the book. "Anyone with an interest in human genetics or who uses genetic techniques in research will find this book useful, particularly if studying diseases with complex inheritance."

The book's chapters combine practical information and strategic advice about the molecular technologies and statistical tools currently in use with reviews of each topic, providing both the how and the why of complex disease analysis. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies, transmission disequilibrium test analysis, variance components analysis, genome-wide association studies, copy-number variation, methods for high-throughput genotyping, the complexity of RNA editing, and genetic computer programs.

About the book: Genetics of Complex Human Diseases: A Laboratory Manual, edited by Ammar Al-Chalabi and Laura Almasy, is available in hardcover (ISBN 978-087969882-9) and paperback (ISBN 978-087969883-6) and is 220 pp. in length. For more information, see www.cshlpress.com/link/gchdp.htm.

Source: Cold Spring Harbor Laboratory

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