Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population

Author:

Motoike Ikuko N,Matsumoto Mitsuyo,Danjoh Inaho,Katsuoka Fumiki,Kojima Kaname,Nariai Naoki,Sato Yukuto,Yamaguchi-Kabata Yumi,Ito Shin,Kudo Hisaaki,Nishijima Ichiko,Nishikawa Satoshi,Pan Xiaoqing,Saito Rumiko,Saito Sakae,Saito Tomo,Shirota Matsuyuki,Tsuda Kaoru,Yokozawa Junji,Igarashi Kazuhiko,Minegishi Naoko,Tanabe Osamu,Fuse Nobuo,Nagasaki Masao,Kinoshita Kengo,Yasuda Jun,Yamamoto Masayuki

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Reference45 articles.

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3. Altshuler D, Durbin DR, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De La Vega FM, Donnelly P, Egholm M, Flicek P, Gabriel SB, Gibbs RA, Knoppers BM, Lander ES, Lehrach H, Mardis ER, McVean GA, Nickerson DA, Peltonen L, Schafer AJ, Sherry ST, Wang J, Wilson R, Gibbs RA, Deiros D, Metzker M, Muzny D, Reid J, Wheeler D, et al: A map of human genome variation from population-scale sequencing. Nature. 2010, 467 (7319): 1061-1073. 10.1038/nature09534.

4. Altshuler DM, Durbin DR, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C, Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry ST, Wang J, Wilson RK, Gibbs RA, Dinh H, Kovar C, Lee S, et al: An integrated map of genetic variation from 1,092 human genomes. Nature. 2012, 491 (7422): 56-65. 10.1038/nature11632.

5. Wong LP, Ong RT, Poh WT, Liu X, Chen P, Li R, Lam KK, Pillai NE, Sim KS, Xu H, Sim NL, Teo SM, Foo JN, Tan LW, Lim Y, Koo SH, Gan LS, Cheng CY, Wee S, Yap EP, Ng PC, Lim WY, Soong R, Wenk MR, Aung T, Wong TY, Khor CC, Little P, Chia KS, Teo YY: Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet. 2013, 92 (1): 52-66. 10.1016/j.ajhg.2012.12.005.

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