Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility
by Moyra Smith
Preface
In 2009, Georgina Ferry wrote, “The optimism of science is twofold: that its methods might reveal, one tiny pixel at a time, more of the wonder of the natural world and that this knowledge might be able to solve practical human problems.”
Progress in the fields of genetics and genomics since a draft sequence of the human genome was published in 2001 is indeed a cause for optimism. However, this discovery has left some people disappointed because development of new therapies to treat disease has been slower than anticipated. Availability of this sequence information has fueled groundbreaking studies in genetics, genomics, and epigenetics that provide insight into human variation and the pathogenesis of both common and rare diseases. ...
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