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- W2013864780 endingPage "617" @default.
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- W2013864780 abstract "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 opportunities such as the use of population extremes and the identification of rare variants. While our ability to sequence DNA has advanced dramatically, assigning function to a given sequence change remains a major challenge, highlighting the need for both bioinformatics and functional approaches to appropriately interpret these data. We review progress in mapping and identifying human disease genes and discuss future challenges and opportunities for the field." @default.
- W2013864780 created "2016-06-24" @default.
- W2013864780 creator A5047722409 @default.
- W2013864780 creator A5067391389 @default.
- W2013864780 date "2013-03-17" @default.
- W2013864780 modified "2023-10-09" @default.
- W2013864780 title "Hunting human disease genes: lessons from the past, challenges for the future" @default.
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