Towards precision medicine
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg.2016.86.pdf
Reference140 articles.
1. Collins, F. S. Implications of the Human Genome Project for medical science. JAMA 285, 540 (2001).
2. Ng, S. B. et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272–276 (2009).
3. Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA 106, 19096–19101 (2009).References 2 and 3 were among the earliest studies to show that exome sequencing could be used to diagnose a genetic condition.
4. Ashley, E. A. et al. Clinical assessment incorporating a personal genome. Lancet 375, 1525–1535 (2010).This paper presented a framework for clinical whole-genome interpretation and described the earliest example of whole-genome-based personalized medicine.
5. Worthey, E. A. et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13, 255–262 (2011).This paper describes a diagnosis made by exome sequencing that led to a dramatic therapeutic response in a young boy.
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