Detection of Genomic Inversion from Single End Read

M. Jager, Structural variations in the human genome ,(2011)

Lubs Ha, A marker X chromosome. American Journal of Human Genetics. ,vol. 21, pp. 231- 244 ,(1969)

Lucy R Osborne, Martin Li, Barbara Pober, David Chitayat, Joann Bodurtha, Ariane Mandel, Teresa Costa, Theresa Grebe, Sarah Cox, Lap-Chee Tsui, Stephen W Scherer, None, A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nature Genetics. ,vol. 29, pp. 321- 325 ,(2001) , 10.1038/NG753

Yang Kang, Huiping Yuan, Fang Cheng, Shihui Yu, Wulian Song, A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Molecular Vision. ,vol. 17, pp. 448- 455 ,(2011)

S. Schmidt, U. Claussen, T. Liehr, A. Weise, Evolution versus constitution: differences in chromosomal inversion. Human Genetics. ,vol. 117, pp. 213- 219 ,(2005) , 10.1007/S00439-005-1294-Z

Pål Nyrén, Arne Lundin, Enzymatic method for continuous monitoring of inorganic pyrophosphate synthesis Analytical Biochemistry. ,vol. 151, pp. 504- 509 ,(1985) , 10.1016/0003-2697(85)90211-8

B. Teague, M. S. Waterman, S. Goldstein, K. Potamousis, S. Zhou, S. Reslewic, D. Sarkar, A. Valouev, C. Churas, J. M. Kidd, S. Kohn, R. Runnheim, C. Lamers, D. Forrest, M. A. Newton, E. E. Eichler, M. Kent-First, U. Surti, M. Livny, D. C. Schwartz, High-resolution human genome structure by single-molecule analysis Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 10848- 10853 ,(2010) , 10.1073/PNAS.0914638107

Lillian Y. F. Hsu, Peter A. Benn, Hody L. Tannenbaum, Theresa E. Perlis, Ann D. Carlson, John M. Opitz, James F. Reynolds, Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. American Journal of Medical Genetics. ,vol. 26, pp. 95- 101 ,(1987) , 10.1002/AJMG.1320260116

V Grossmann, M Höckner, H Karmous-Benailly, D Liang, R Puttinger, R Quadrelli, B Röthlisberger, A Huber, L Wu, A Spreiz, C Fauth, M Erdel, J Zschocke, G Utermann, D Kotzot, Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis. Clinical Genetics. ,vol. 78, pp. 548- 553 ,(2010) , 10.1111/J.1399-0004.2010.01419.X

Suzanne S. Sindi, Benjamin J. Raphael, Identification and frequency estimation of inversion polymorphisms from haplotype data. Journal of Computational Biology. ,vol. 17, pp. 517- 531 ,(2010) , 10.1089/CMB.2009.0185