Preface; Acknowledgements; 1 Lessons from haemoglobin; 2 Finding genes and specific genetic variants responsible for disease; 3 Cytogenetics and large scale structural genomic variation; 4 Copy number variation in health and susceptibility to disease; 5 Submicroscopic structural variation and genomic disorders; 6 Segmental duplications and indel polymorphisms; 7 Tandem repeats; 8 Mobile DNA elements; 9 SNPs, HapMap, and common disease; 10 Fine scale sequence diversity and signatures of selection; 11 Genetics of gene expression.
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SUMMARY OR ABSTRACT
Text of Note
The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research isallowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to.