参考文献
[1] Ryan E. Mills, Klaudia Walter, Chip Stewart, Robert E. Handsaker, et al. Mapping copy number variation by population-scale genome sequencing. Nature February 2011 470.59–65
[2] Srikanth Gottipati, Leonardo Arbiza, Adam Siepel, Adam Siepel, Andrew G Clark, Alon Keinan. Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing. Nature Genetics 43 741–743 (2011)
[3] Can Alkan , Bradley P. Coe & Evan E. Eichler Genome structural variation discovery and genotyping Nat. Rev. Genet., 12, 363–376 (2011).
[4] Derek M. Bickhart, Yali Hou, Steven G. Schroeder, et al. Copy number variation of individual cattle genomes using next-generation sequencing February 2, 2012, doi: 10.1101/gr.133967.111
[5] Kerstin Lindblad-Toh, Manuel Garber, Or Zuk,Michael F. Lin, et al. A high-resolution map of human evolutionary constraint using 29 mammals. Nature 478, 476–482(2011)
[6] Michael F. Berger, Eran Hodis, Timothy P. Heffernan, Yonathan Lissanu Deribe, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature 11071 (2012)
[7] Tobias Rausch, David T.W. Jones, Marc Zapatka, Adrian M. Stütz, Thomas Zichner, Joachim et al. Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations. Cell, Volume 148, Issue 1, 59-71, 20 January 2012
[8] Zamin Iqbal, Mario Caccamo,Isaac Turner, Paul Flicek, Gil McVean De novo assembly and genotyping of variants using colored de Bruijn graphs. Nature Genetics 44, 226–232 (2012)
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