Journal
HUMAN GENETICS
Volume 132, Issue 6, Pages 603-617Publisher
SPRINGER
DOI: 10.1007/s00439-013-1286-3
Keywords
-
Categories
Funding
- Biomedical Research Council (BMRC) of the Agency for Science, Technology and Research (A*STAR), Singapore
- National University of Singapore. MRH is a Canada Research Chair in Human Genetics
- Clinician Investigator Program at the University of British Columbia
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available