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

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

1. Introduction

2. A Molecular Disorder

3. A Code of Life

4. The Genome

5. Variants in the Human Genome Sequence and Their Biological Significance

6. The Critical Protein Coding Sequences

7. Triplet Repeats and Neurodegenerative Disorders

8. The Untranslated Parts of a Message

9. Exons, Introns, and a Royal Bleeding Disorder

10. The Regulation of Transcription

11. The Noncoding RNAs

12. Computational Methods Are Critical in the Analysis of Molecular Sequences

13. Diagnosing the Genome

14. Correcting Genome Errors

15. Epilogue

Appendixes

Glossary

Recommended Textbooks for Further Reading

Index