Detection of hydin Gene Duplication in Personal Genome Sequence Data |
Kim, Jong-Il
(Genomic Medicine Institute, Medical Research Center, Seoul National University)
Ju, Young-Seok (Genomic Medicine Institute, Medical Research Center, Seoul National University) Kim, Shee-Hyun (Macrogen Inc.) Hong, Dong-Wan (Genomic Medicine Institute, Medical Research Center, Seoul National University) Seo, Jeong-Sun (Genomic Medicine Institute, Medical Research Center, Seoul National University) |
1 | Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., Guo, Y., Feng, B., Li, H., Lu, Y., Fang, X., Liang, H., Du, Z., Li, D., Zhao, Y., Hu, Y., Yang, Z., Zheng, H., Hellmann, I., Inouye, M., Pool, J., Yi, X., Zhao, J., Duan, J., Zhou, Y., Qin, J., Ma, L., Li, G., Yang, Z., Zhang, G., Yang, B., Yu, C., Liang, F., Li, W., Li, S., Li, D., Ni, P., Ruan, J., Li, Q., Zhu, H., Liu, D., Lu, Z., Li, N., Guo, G., Zhang, J., Ye, J., Fang, L., Hao, Q., Chen, Q., Liang, Y., Su, Y., San, A., Ping, C., Yang, S., Chen, F., Li, L., Zhou, K., Zheng, H., Ren, Y., Yang, L., Gao, Y., Yang, G., Li, Z., Feng, X., Kristiansen, K., Wong, G.K., Nielsen, R., Durbin, R.,Bolund, L., Zhang, X., Li, S., Yang, H., and Wang, J. (2008). The diploid genome sequence of an Asian individual. Nature 456, 60-65 DOI ScienceOn |
2 | Ahn, S.M., Kim, T.H., Lee, S., Kim, D., Ghang, H., Kim, D.S., Kim, B.C., Kim, S.Y., Kim, W.Y., Kim, C., Park, D., Lee, Y.S., Kim, S., Reja, R., Jho, S., Kim, C.G., Cha, J.Y., Kim, K.H., Lee, B., Bhak, J., Kim, S.J. (2009). The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res. 19,1622-1629 DOI ScienceOn |
3 | Bentley, D.R., Balasubramanian, S., Swerdlow, H.P., Smith, G.P., Milton, J., Brown, C.G., Hall, K.P., Evers, D.J., Barnes, C.L., Bignell, H.R., Boutell, J.M., Bryant, J., Carter, R.J., Keira Cheetham, R., Cox, A.J., Ellis, D.J., Flatbush, M.R., Gormley, N.A., Humphray, S.J., Irving, L.J., Karbelashvili, M.S., Kirk, S.M., Li, H., Liu, X., Maisinger, K.S., Murray, L.J., Obradovic, B., Ost, T., Parkinson, M.L., Pratt, M.R., Rasolonjatovo, I.M., Reed, M.T., Rigatti, R., Rodighiero, C., Ross, M.T., Sabot, A., Sankar, S.V., Scally, A., Schroth, G.P., Smith, M.E., Smith, V.P., Spiridou, A., Torrance, P.E., Tzonev, S.S., Vermaas, E.H., Walter, K., Wu, X., Zhang, L., Alam, M.D., Anastasi, C., Aniebo, I.C., Bailey, D.M., Bancarz, I.R., Banerjee, S., Barbour, S.G., Baybayan, P.A., Benoit, V.A., Benson, K.F., Bevis, C., Black, P.J., Boodhun, A., Brennan, J.S., Bridgham, J.A., Brown, R.C., Brown, A.A., Buermann, D.H., Bundu, A.A., Burrows, J.C., Carter, N.P., Castillo, N., Chiara E Catenazzi, M., Chang, S., Neil Cooley, R., Crake, N.R., Dada, O.O., Diakoumakos, K.D., Dominguez-Fernandez, B., Earnshaw, D.J., Egbujor, U.C., Elmore, D.W., Etchin, S.S., Ewan, M.R., Fedurco, M., Fraser, L.J., Fuentes Fajardo, K.V., Scott Furey, W., George, D., Gietzen, K.J., Goddard, C.P., Golda, G.S., Granieri, P.A., Green, D.E., Gustafson, D.L., Hansen, N.F., Harnish, K., Haudenschild, C.D., Heyer, N.I., Hims, M.M., Ho, J.T., Horgan, A.M., Hoschler, K., Hurwitz, S., Ivanov, D.V., Johnson, M.Q., James, T., Huw Jones, T.A., Kang, G.D., Kerelska, T.H., Kersey, A.D., Khrebtukova, I. Kindwall, A.P., Kingsbury, Z., Kokko-Gonzales, P.I., Kumar, A., Laurent, M.A., Lawley, C.T., Lee, S.E., Lee, X., Liao, A.K., Loch, J.A., Lok, M., Luo, S., Mammen, R.M., Martin, J.W., McCauley, P.G., McNitt, P., Mehta, P., Moon, K.W., Mullens, J.W., Newington, T., Ning, Z.,Ling Ng, B., Novo, S.M., O'Neill, M.J., Osborne, M.A., Osnowski, A., Ostadan, O.,Paraschos, L.L., Pickering, L., Pike, A.C., Pike, A.C., Chris Pinkard, D., Pliskin, D.P., Podhasky, J., Quijano, V.J., Raczy, C., Rae, V.H., Rawlings, S.R., Chiva Rodriguez, A., Roe, P.M., Rogers, J., Rogert Bacigalupo, M.C., Romanov, N., Romieu, A., Roth, R.K., Rourke, N.J., Ruediger, S.T., Rusman, E., Sanches-Kuiper, R.M., Schenker, M.R., Seoane, J.M., Shaw, R.J., Shiver, M.K., Short, S.W., Sizto, N.L., Sluis, J.P., Smith, M.A., Ernest Sohna Sohna, J., Spence, E.J., Stevens, K., Sutton, N., Szajkowski, L., Tregidgo, C.L., Turcatti, G., Vandevondele, S., Verhovsky, Y., Virk, S.M., Wakelin, S., Walcott, G.C., Wang, J., Worsley, G.J., Yan, J., Yau, L., Zuerlein, M., Rogers, J., Mullikin, J.C., Hurles, M.E., McCooke, N.J., West, J.S., Oaks, F.L., Lundberg, P.L., Klenerman, D., Durbin, R., and Smith, A.J. (2008). Accurate whole human genome sequencing using reversible reversible terminator chemistry. Nature 456, 53-59 DOI ScienceOn |
4 | Davy, B.E., and Robinson, M.L. (2003). Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in hydin, a large novel gene. Hum. Mol. Genet. 12, 1163-1170 DOI ScienceOn |
5 | International Human Genome Sequencing Consortium (2004). Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 DOI PUBMED ScienceOn |
6 | Wheeler, D.A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.J., Makhijani, V., Roth, G.T., Gomes, X., Tartaro, K., Niazi, F., Turcotte, C.L,. Irzyk, G.P., Lupski, J.R., Chinault, C., Song, X.Z., Liu, Y., Yuan, Y., Nazareth, L., Qin, X., Muzny, D.M., Margulies, M., Weinstock, G.M., Gibbs, R.A., and Rothberg, J.M. (2008). The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876 DOI ScienceOn |
7 | McKernan, K.J., Peckham, H.E., Costa, G.L., McLaughlin, S.F., Fu, Y., Tsung, E.F., Clouser, C.R., Duncan, C., Ichikawa, J.K., Lee, C.C., Zhang, Z., Ranade, S.S., Dimalanta, E.T., Hyland, F.C., Sokolsky, T.D., Zhang, L. Sheridan, A., Fu, H., Hendrickson, C.L., Li, B., Kotler, L., Stuart, J.R., Malek, J.A., Manning, J.M., Antipova, A.A., Perez, D.S., Moore, M.P., Hayashibara, K.C., Lyons, M.R., Beaudoin, R.E., Coleman, B.E., Laptewicz, M.W., Sannicandro, A.E., Rhodes, M.D., Gottimukkala, R.K., Yang, S., Bafna, V., Bashir, A., MacBride, A., Alkan, C., Kidd, J.M., Eichler, E.E., Reese, M.G., De La Vega, F.M., and Blanchard, A.P. (2009). Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res. 19, 1527-1541 DOI ScienceOn |
8 | Levy, S., Sutton, G., Ng, P.C., Feuk, L., Halpern, A.L., Walenz, B.P., Axelrod, N., Huang, J., Kirkness, E.F., Denisov, G., Lin, Y., MacDonald, J.R., Pang, A.W., Shago, M., Stockwell, T.B., Tsiamouri, A., Bafna, V., Bansal, V., Kravitz, S.A., Busam, D.A., Beeson, K.Y., McIntosh, T.C., Remington, K.A., Abril, J.F., Gill, J., Borman, J., Rogers, Y.H., Frazier, M.E., Scherer, S.W., Strausberg, R.L., and Venter, J.C. (2007). The diploid genome sequence of an individual human. PLoS. Biol. 5 e254 DOI PUBMED |
9 | Yngvadottir, B., Macarthur, D.G., Jin, H., and Tyler-Smith, C. (2009). The promise and reality of personal genomics. Genome Biol. 10, 237 DOI PUBMED ScienceOn |
10 | Kim, J.I., Ju, Y.S., Park, H., Kim, S., Lee, S., Yi, J.H., Mudge, J., Miller, N.A., Hong, D., Bell, C.J., Kim, H.S., Chung, I.S., Lee, W.C., Lee, J.S., Seo, S.H., Yun, J.Y., Woo, H.N., Lee, H., Suh, D., Lee, S., Kim, H.J., Yavartanoo, M., Kwak, M., Zheng, Y., Lee, M.K., Park, H., Kim, J.Y., Gokcumen, O., Mills, R.E., Zaranek, A.W., Thakuria, J., Wu, X., Kim, R,W., Huntley, J.J., Luo, S., Schroth, G.P., Wu, T.D., Kim, H., Yang, K.S., Park, W.Y., Kim, H., Church, G.M., Lee, C., Kingsmore, S.F., and Seo J.S. (2009). A highly annotated whole-genome sequence of a Korean individual. Nature 460, 1011-1015es, B. W., King, S. A., Allan, P. W., Parker, W. B. and Sorscher, E. J. 1998. Cell to cell contact is not required for bystander cell killing by Escherichia coli purine nucleoside phosphorylase. J. Biol. Chem. 273:2322-2328.Ā樀1〮㜴⽪扣⸲㜳⸴⸲㌲㈀ F 范 ᤀ䑍䩇䑁弲〱た瘵㉮㍟ㄷ㕟〲㠁2贀褈 돀䠫?⨀ 塨?⨀ ?⨀ 愈 돐 ?잖⨀ ?잖⨀ /ࡅڗ⨀ ℈ 덐 塞?⨀ C慮捥爠剥献Ȁ㔵 ऀ㌳㌹ⴳ㌴㔊1㤹㔭〰ⴰ Ȃ鈀Ăಈ Ȁ Ā沗⤀ʺ最ʺ昀㔀㔃最Ā䠀甀最栀攀猀 䤿픈吀 ʺ昃꤁䀀Ȃ㸉 ⸀ Ā䠀甀最栀攀猀Ⰰ 䈀⸀ 圀⸀Ⰰ 圀攀氀氀猀Ⰰ 䄀⸀ 䠀⸀Ⰰ 䈀攀戀漀欀Ⰰ 娀⸀Ⰰ 䜀愀搀椀Ⰰ 嘀⸀ 䬀⸀Ⰰ 䨀爀⸀ 䜀愀爀瘀攀爀Ⰰ 刀⸀ 䤀⸀Ⰰ 倀愀爀欀攀爀Ⰰ 圀⸀ 䈀⸀ 愀渀搀 匀漀爀猀挀栀攀爀Ⰰ 䔀⸀ 䨀⸀ 㤀㤀㔀⸀ 䈀礀猀琀愀渀搀攀爀 欀椀氀氀椀渀最 漀昀 洀攀氀愀渀漀洀愀 挀攀氀氀猀 甀猀椀渀最 琀栀攀 栀甀洀愀渀 琀礀爀漀猀椀渀愀猀攀 瀀爀漀洀漀琀攀爀 琀漀 攀砀瀀爀攀猀猀 琀栀攀 DOI PUBMED ScienceOn |
11 | Tucker, T., Marra, M., and Friedman, J.M. (2009). Massively parallel sequencing: the next big thing in genetic medicine. Am. J. Hum. Genet. 85, 142-154 DOI ScienceOn |
12 | Doggett, N.A., Xie, G., Meincke, L.J., Sutherland, R.D.,Mundt, M.O., Berbari, N.S., Davy, B.E., Robinson, M.L.,Rudd, M.K., Weber, J.L., Stallings, R.L., and Han, C.(2006). A 360-kb interchromosomal duplication of the human hydin locus. Genomics 88, 762-771 DOI ScienceOn |
![]() |