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The Human Genome in Health and Disease

A Story of Four Letters

Tore Samuelsson (University of Gothenburg, Sweden)



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CRC Press
01 February 2019
The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders.

The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome.

Key selling features:

Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter
By:   Tore Samuelsson (University of Gothenburg Sweden)
Imprint:   CRC Press
Country of Publication:   United Kingdom
Dimensions:   Height: 276mm,  Width: 213mm, 
Weight:   1.021kg
ISBN:   9780367076337
ISBN 10:   0367076330
Pages:   283
Publication Date:   01 February 2019
Audience:   College/higher education ,  Further / Higher Education ,  A / AS level
Format:   Hardback
Publisher's Status:   Active
Chapter 1. Introduction Chapter 2. A molecular disorder Chapter 3. A code of life Chapter 4. The genome Chapter 5. Variants in the human genome sequence and their biological significance Chapter 6. The critical protein coding sequences Chapter 7. Triplet repeats and neurodegenerative disorders Chapter 8. The untranslated parts of a message Chapter 9. Exons, introns and a royal bleeding disorder Chapter 10. The regulation of transcription Chapter 11. The non-coding RNAs Chapter 12. Computational methods are critical in the analysis of molecular sequences Chapter 13. Diagnosing the genome Chapter 14. Correcting genome errors Chapter 15. Epilogue

Reviews for The Human Genome in Health and Disease: A Story of Four Letters

Although the material is appropriate for advanced biology students, this volume would also be suitable for those with limited knowledge of biology due to the detailed and careful walkthrough of the topic matter that makes it approachable for nonspecialists, especially for fledgling computational biologists or clinical geneticists, and even for nonacademics who wish to better understand their own genome. - William Gillis, Biological Sciences, State University of New York College at Old Westbury

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