The basic sequence was a mere prelude. The decade since has seen, as he says, "a shower of scientific surprises". These are leading to a vastly more complex picture of the evolution and operation of genomes, of a Book of Man whose annotations are constantly shifting and whose various parts interact in unexpected ways.
The hitherto unexplored regions of the genome that do not code directly for functional proteins turn out to have a good deal more to do with how and when genes are expressed than anyone guessed. The emerging details are endlessly interesting. It is too soon to say where they will lead. But the fact that they make the full sequence the beginning, not the end, of an investigation means that the promised medical applications have been slow in coming. McElheny reports the largely disappointing results of the genome-wide association studies that aimed to find new genetic links with major diseases.
They did, but threw up dozens of gene locations with what are almost always weak effects. That means each one has to be pursued in much more depth to discover what it may reveal about the underlying biology of, say, heart disease, rather than offering immediate clues to prevention or treatment.
McElheny's final chapter summarises how such work may develop in several fields, but here he is aiming at a moving target and inevitably can sketch only an interim report, not a history. But the bulk of the book is an excellent summary of the beginnings of the genomic era. Get a month's unlimited access to THE content online. Just register and complete your career summary.
The tweenage human genome sequence
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- Drawing the Map of Life: Inside the Human Genome Project.
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ISBN Published 1 July Please login or register to read this article. Register to continue Get a month's unlimited access to THE content online. McElheny also shows that the Human Genome Project is a striking example of how new techniques such as restriction enzymes and sequencing methods often arrive first, shaping the questions scientists then ask. Drawing on years of original interviews and reporting in the inner circles of biological science, Drawing the Map of Life is the definitive, up-to-date story of today's greatest scientific quest.
No one who wishes to understand genome mapping and how it is transforming our lives can afford to miss this book. This is a very modern story and, ultimately, curiously heart-warming. Everyone probably remembers the headline findings of early - shock that 98 per cent of the genome didn't seem to do anything and disbelief at humanity's modest gene count 30, and falling.
By so comprehensively telling the story of what happened before and after this moment, McElheny leaves the reader in no doubt that the genomic climbing expedition was only the beginning of a thrilling era that will unfold for many decades to come.
Drawing the Map of Life: Inside the Human Genome Project by Victor K. McElheny
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