Article
Hunting human disease genes: lessons from the past, challenges for the future.
Human genetics - 1 Jun 2013
Brunham Liam R, Hayden Michael R
Abstract excerpt
The concept that a specific alteration in an individual's DNA can result in disease is central to our notion of molecular medicine. The molecular basis of more than 3,500 Mendelian disorders has now been identified. In contrast, the identification of genes for common disease has been much more challenging. We discuss historical and contemporary approaches to disease gene identification, focusing on novel...
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