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2 - Molecular Genetics and Genomics

Published online by Cambridge University Press:  06 October 2017

By
Sergey A. Kornilov
Edited by
Susan Bouregy ,
Elena L. Grigorenko ,
Stephen R. Latham  and
Mei Tan
Susan Bouregy
Affiliation:
Yale University, Connecticut
Elena L. Grigorenko
Affiliation:
Yale University, Connecticut
Stephen R. Latham
Affiliation:
Yale University, Connecticut
Mei Tan
Affiliation:
University of Texas, Houston
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Information
Genetics, Ethics and Education , pp. 45 - 62
Publisher: Cambridge University Press
Print publication year: 2017

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References

Bamshad, M. J., Ng, S. B., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., et al. (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nature Review Genetics, 12(11), 745–755. doi:10.1038/nrg3031CrossRefGoogle ScholarPubMed
Botstein, D., & Risch, N. (2003). Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease. Nature Genetics, 33(suppl.), 228–237. doi:10.1038/ng1090CrossRefGoogle ScholarPubMed
Boycott, K. M., Vanstone, M. R., Bulman, D. E., & MacKenzie, A. E. (2013). Rare-disease genetics in the era of next-generation sequencing: Discovery to translation. Nature Reviews Genetics, 14(10), 681–691. doi:10.1038/nrg3555CrossRefGoogle ScholarPubMed
Campbell, C. D., & Eichler, E. E. (2013). Properties and rates of germline mutations in humans. Trends in Genetics, 29(10), 575–584. doi:10.1016/j.tig.2013.04.005CrossRefGoogle ScholarPubMed
Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W., Vulto-van Silfhout, A. T., Bosco, P., et al. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46, 1063–1071. doi:10.1038/ng.3092CrossRefGoogle ScholarPubMed
Cooper, G. M., Nickerson, D. A., & Eichler, E. E. (2007). Mutational and selective effects on copy-number variants in the human genome. Nature Genetics, 39(S), 22–29. doi:10.1038/ng2054CrossRefGoogle ScholarPubMed
Gerstein, M. B., Bruce, C., Rozowsky, J. S., Zheng, D., Du, J., Korbel, J. O., et al. (2007). What is a gene, post-ENCODE? History and updated definition. Genome Research, 17(6), 669–681. doi:10.1101/gr.6339607CrossRefGoogle ScholarPubMed
Gibson, G. (2012). Rare and common variants: Twenty arguments. Nature Reviews Genetics, 13(2), 135–145. doi:10.1038/nrg3118CrossRefGoogle ScholarPubMed
Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C., Vives, L., Vu, T. H., et al. (2011). Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genetics, 7(11), e1002334. doi:10.1371/journal.pgen.1002334CrossRefGoogle ScholarPubMed
Goldstein, D. B., Allen, A., Keebler, J., Margulies, E. H., Petrou, S., Petrovski, S., et al. (2013). Sequencing studies in human genetics: Design and interpretation. Nature Review Genetics, 14(7), 460–470. doi:10.1038/nrg3455CrossRefGoogle Scholar
Hawrylycz, M. J., Lein, E. S., Guillozet-Bongaarts, A. L., Shen, E. H., Ng, L., Miller, J. A., et al. (2012). An anatomically comprehensive atlas of the adult human brain transcriptome. Nature, 489, 391–399. doi:10.1038/nature11405CrossRefGoogle ScholarPubMed
International Human Genome Sequencing Consortium. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860–921. doi:10.1038/35057062CrossRefGoogle Scholar
International Human Genome Sequencing Consortium. (2004). Finishing the euchromatic sequence of the human genome. Nature, 431(7011), 931–945. doi:10.1038/nature03001CrossRefGoogle Scholar
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. The American Journal of Human Genetics, 84(2), 148–161. doi:10.1016/j.ajhg.2008.12.014CrossRefGoogle ScholarPubMed
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., et al. (2011). Spatio-temporal transcriptome of the human brain. Nature, 478(7370), 483–489. doi:10.1038/nature10523CrossRefGoogle ScholarPubMed
Keightley, P. D. (2012). Rates and fitness consequences of new mutations in humans. Genetics, 190(2), 295–304. doi:10.1534/genetics.111.134668CrossRefGoogle ScholarPubMed
Kircher, M., & Kelso, J. (2010). High-throughput DNA sequencing – Concepts and limitations. Bioessays, 32, 524–536. doi:10.1002/bies.200900181CrossRefGoogle ScholarPubMed
Lynch, M. (2010). Rate, molecular spectrum, and consequences of human mutation. Proceedings of the National Academy of Sciences, 107(3), 961–968. doi:10.1073/pnas.0912629107CrossRefGoogle ScholarPubMed
Naumova, O. Y., Lee, M., Rychkov, S. Y., Vlasova, N. V., & Grigorenko, E. L. (2013). Gene expression in the human brain: The current state of the study of specificity and spatiotemporal dynamics. Child Development, 84(1), 76–88. doi:10.1111/cdev.12014CrossRefGoogle Scholar
Pearson, H. (2006). Genetics: What is a gene? Nature, 441, 398–401. doi:10.1038/441398aCrossRefGoogle ScholarPubMed
Sanger, F., & Coulson, A. R. (1975). A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. Journal of Molecular Biology, 94(3), 441–448. doi:10.1016/0022-2836(75)90213-2CrossRefGoogle ScholarPubMed
Sanger, F., Nicklen, S., & Coulson, A. R. (1977). DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences, 74(12), 5463–5467.CrossRefGoogle ScholarPubMed
Segura, M., Pedreno, C., Obiols, J., Taurines, R., Pamias, M., Grunblatt, E., et al. (2015). Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder. Neurogenetics, 16(2), 123–131. doi:10.1007/s10048-014-0434-9CrossRefGoogle ScholarPubMed
Schork, N. J., Murray, S. S., Frazer, K. A., & Topol, E. J. (2009). Common vs. rare allele hypotheses for complex diseases. Current Opinion in Genetics & Development, 19(3), 212–219. doi:10.1016/j.gde.2009.04.010CrossRefGoogle ScholarPubMed
Sollis, S., Graham, S. A., Vino, A., Froehlich, H., Vreeburg, M., Dimitropoulou, D., et al. (2015). Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Human Molecular Genetics. doi:10.1093/hmg/ddv495Google Scholar
Sullivan, P. F., Fan, C., & Perou, C. M. (2006). Evaluating the comparability of gene expression in blood and brain. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B(3), 261–268. doi:10.1002/ajmg.b.30272CrossRefGoogle ScholarPubMed
The 1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature, 467(7319), 1061–1073. doi:10.1038/nature09534CrossRefGoogle Scholar
The ENCODE Project Consortium. (2012). An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414), 57–74. doi:10.1038/nature11247CrossRefGoogle Scholar
van Dijk, E. L., Auger, H., Jaszczyszyn, Y., & Thermes, C. (2014). Ten years of next-generation sequencing technology. Trends in Genetics, 30(9), 418–426. doi:10.1016/j.tig.2014.07.001CrossRefGoogle ScholarPubMed
Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., et al. (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine, 21, 185–191. doi:10.1038/nm.3792CrossRefGoogle ScholarPubMed

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