[1] Antipova AA, Sokolsky TD, Clouser CR, Dimalanta ET, Hendrickson CL, Kosnopo C, Lee CC, Ranade SS, Zhang L, Blanchard AP, McKernan KJ. Polymorphism discovery in high-throughput resequenced microarray-enriched human genomic loci. J Biomol Tech, 2009, 20(5): 253–257.
[2] Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR. A general approach to single-nucleotide polymorphism discovery. Nat Genet, 1999, 23(4): 452–456.
[3] Zhang J, Xiao L, Yin YF, Sirois P, Gao HL, Li K. A law of mutation: power decay of small insertions and small deletions associated with human diseases. Appl Biochem Biotechnol, 2010, 162(2): 321–328.
[4] Kamb A. Mutation load, functional overlap, and synthetic lethality in the evolution and treatment of cancer. J Theor Biol, 2003, 223(2): 205–213.
[5] Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature, 2001, 409(6822): 928–933.
[6] Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet, 2004, 36(9): 949–951.
[7] Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. Mapping and sequencing of structural variation from eight human genomes. Nature, 2008, 453(7191): 56–64.
[8] 何永蜀, 张闻, 杨照青. 人类基因组结构变异. 遗传, 2009, 31(8): 771–778.
[9] Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. Fine-scale structural variation of the human genome. Nat Genet, 2005, 37(7): 727–732.
[10] Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang FT, Zhang JJ, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature, 2006, 444(7118): 444–454.
[11] Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, Lam WL. A comprehensive analysis of common copy- number variations in the human genome. Am J Hum Genet, 2007, 80(1): 91–104.
[12] Rosa-Rosa JM, Gracia-Aznarez FJ, Hodges E, Pita G, Rooks M, Xuan Z, Bhattacharjee A, Brizuela L, Silva JM, Hannon GJ, Benitez J. Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting. PLoS One, 2010, 5(4): e9976.
[13] Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature, 2009, 461(7261): 272–276.
[14] 周德贵, 赵琼一, 付崇允, 李宏, 蔡学飞, 罗达, 周少川. 新一代测序技术及其对水稻分子设计育种的影响. 分子植物育种, 2008, 6(4): 619–630.
[15] Mokry M, Feitsma H, Nijman IJ, de Bruijn E, van der Zaag PJ, Guryev V, Cuppen E. Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res, 2010, 38(10): e116.
[16] Dressman D, Yan H, Traverso G, Kinzler KW, Vogelstein B. Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci USA, 2003, 100(15): 8817–8822.
[17] Fedurco M, Romieu A, Williams S, Lawrence I, Turcatti G. BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies. Nucleic Acids Res, 2006, 34(3): e22.
[18] 周晓光, 任鲁风, 李运涛, 张猛, 俞育德, 于军. 下一代测序技术: 技术回顾与展望. 中国科学(C辑), 2010, 40(1): 23–37.
[19] Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN. Microindel detection in short-read sequence data. Bioinformatics, 2010, 26(6): 722–729.
[20] Chen PY, Cokus SJ, Pellegrini M. BS Seeker: precise mapping for bisulfite sequencing. BMC Bioinformatics, 2010, 11(1): 203.
[21] Temin HM. Evolution of cancer genes as a mutation-driven process. Cancer Res, 1988, 48(7): 1697–1701.
[22] Pfeifer GP, Besaratinia A. Mutational spectra of human cancer. Hum Genet, 2009, 125(5–6): 493–506.
[23] Choi M, Scholl UI, Ji WZ, Liu TW, Tikhonova IR, Zumbo P, Nayir A, Bakkalo?lu A, Özen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA, 2009, 106(45): 19096–19101.
[24] Metzker ML. Sequencing technologies―the next generation. Nat Rev Genet, 2010, 11(1): 31–46. |