Article
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.
BMC genomics - 10 Aug 2014
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
Abstract excerpt
BACKGROUND: Validation of single nucleotide variations in whole-genome sequencing is critical for studying disease-related variations in large populations. A combination of different types of next-generation sequencers for analyzing individual genomes may be an efficient means of validating multiple single nucleotide variations calls simultaneously. RESULTS: Here, we analyzed 12 independent Japanese genomes using...
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