Readings

Diagnostics & Prognostics

1. Robinson, P. N. et al. Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res. 24, 340–8 (2014).

2. Jiang Y, Yuen RKC, Jin X, Wang M, Chen N, Wu X, et al. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing. Am J Hum Genet [Internet]. 2013 Aug 8 [cited 2015 Dec 12];93(2):249–63. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738824/

3. Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet [Internet]. 2014 Aug [cited 2015 Dec 12];46(8):881–5. Available from: http://www.nature.com/ng/journal/v46/n8/abs/ng.3039.html

4.  Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine. The Lancet Neurology [Internet]. 2015 Nov [cited 2015 Dec 12];14(11):1109–20. Available from: http://www.sciencedirect.com/science/article/pii/S1474442215000447

5. Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature [Internet]. 2014 Nov 13 [cited 2015 Dec 12];515(7526):216–21. Available from: http://www.nature.com/nature/journal/v515/n7526/abs/nature13908.html

6. O’Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun [Internet]. 2014 Nov 24 [cited 2015 Dec 12];5:5595. Available from: http://www.nature.com/ncomms/2014/141124/ncomms6595/full/ncomms6595.html?WT.ec_id=NCOMMS-20141126

7. Ronemus M, Iossifov I, Levy D, Wigler M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet [Internet]. 2014 Feb [cited 2015 Dec 12];15(2):133–41. Available from: http://www.nature.com/nrg/journal/v15/n2/full/nrg3585.html

8. Yuen RKC, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med [Internet]. 2015 Feb [cited 2015 Dec 12];21(2):185–91. Available from: http://www.nature.com/nm/journal/v21/n2/full/nm.3792.html

Therapeutics

1. Ashburn, T. T. & Thor, K. B. Drug repositioning: identifying and developing new uses for existing drugs. Nat. Rev. Drug Discov. 3, 673–83 (2004).

2. Gottlieb, A., Stein, G. Y., Ruppin, E. & Sharan, R. PREDICT: a method for inferring novel drug indications with application to personalized medicine. Mol. Syst. Biol. 7, 496 (2011).

3. Zambrowicz, B. P. & Sands, A. T. Knockouts model the 100 best-selling drugs--will they model the next 100? Nat. Rev. Drug Discov. 2, 38–51 (2003).

4. Seok, J. et al. Genomic responses in mouse models poorly mimic human inflammatory diseases. Proc. Natl. Acad. Sci. U. S. A. 110, 3507–12 (2013).
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