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

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...

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Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4138778/
https://ncbi.nlm.nih.gov/pubmed/25109789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-673
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