Mutations in Genetic Disease

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This compelling book written for readers with interest in mutations in genetic disease provides an important source of information in the field. Various types of mutations can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their size, location and nature are often decided either by particular aspects of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now believed to consist of pervasive architectural flaws and in that, some DNA sequences are inherently mutation prone by virtue of their sequence repetition, base composition or/and epigenetic optimization. In this book, several distinct authors from across the globe have provided valuable information elucidating how the location, frequency and nature of various types of mutation causing inherited diseases are shaped in large parts, and often in considerably predictable ways, by the local DNA sequence environment.