References
- DA Wheeler et al., The complete genome of an individual by massively parallel DNA sequencing, Nature, 452:872-876, 2008. https://doi.org/10.1038/nature06884
- J Shendure and H Ji, Next-generation DNA sequencing, Nature Biotechnology, 26:1135-1145, 2008. https://doi.org/10.1038/nbt1486
- SC Schuster, Next-generation sequencing transforms today's biology, Nature Methods, 5:16-18, 2008.
- JC Roach et al., Analysis of genetic inheritance in a family quartet by whole genome sequencing, Science, 328(5978):636-639, 2010. https://doi.org/10.1126/science.1186802
- SB Ng et al., Exome sequencing identifies the cause of a Mendelian disorder, Nature Genetics, 42:30-35, 2010. https://doi.org/10.1038/ng.499
- JR Lupski et al., Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy, New England Journal of Medicine, 362:1181-1191, 2010. https://doi.org/10.1056/NEJMoa0908094
- A Hoischen et al., De novo mutations of SETBP1 cause Schinzel-Giedion syndrome, Nature Genetics, 42:483-485, 2010. https://doi.org/10.1038/ng.581
- NL Sobreira et al., Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene, PLoS Genetics, 6(6):e10- 00991, 2010.
- SB Ng et al., Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome, Nature Genetics, 42:790-793, 2010. https://doi.org/10.1038/ng.646
- ET Cirulli and DB Goldstein, Uncovering the roles of rare variants in common disease through whole-genome sequencing, Nature Reviews Genetics, 11(6):415-425, 2010. https://doi.org/10.1038/nrg2779
- DF Conrad et al., Variation in genome-wide mutation rates within and between human families, Nature Genetics, 43:712-714, 2011. https://doi.org/10.1038/ng.862