Development of a long indel detection method using the realignment of the misaligned reads.
Shigemizu, D., Miya, F., Fujimoto, A., Boroevich, K. A., Okuda, S., Tsunoda, T. Development of a long indel detection method using the realignment of the misaligned reads. ASHG2016, Vancouver (2016/10).
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
Shigehara, Y., Okuda, S., Nemer, G., Chedraoui, A., Hayashi, R., Bitar, F., Nakai, H., Abbas, O., Daou, L., Abe, R., Sleiman, M. B., Kibbi, A. G., Kurban, M., Shimomura, Y. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. Hum. Mol. Genet. 25(20):4484-4493 (2016).
New Filtering Functionality in GlyTouCan, The Glycan Repository.
Aoki, N. P., Aoki-Kinoshita, K. F., Shinmachi, D., Yamada, I., Tsuchiya, S., Matsubara, M., Okuda, S., Fujita, N., Suzuki, Y., Fujita, A., Solovieva, E., Shikanai, T., Kawasaki, T., Narimatsu, H. New Filtering Functionality in GlyTouCan, The Glycan Repository. ACGG2016 (2016/10/13).
Integrating Life Science Database with Semantic Web Technologies.
Shinmachi, D., Aoki-Kinoshita, K. F., Aoki, N. P., Yamada, I., Tsuchiya, S., Matsubara, M., Okuda, S., Fujita, N., Suzuki, Y., Fujita, A., Solovieva, E., Shikanai, T., Kawasaki, T., Narimatsu, H. Integrating Life Science Database with Semantic Web Technologies. ACGG2016 (2016/10/13).
Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.
Egawa, J., Hoya, S., Watanabe, Y., Nunokawa, A., Shibuya, M., Ikeda, M., Inoue, E., Okuda, S., Kondo, K., Saito, T., Kaneko, N., Muratake, T., Igeta, H., Iwata, N., Someya, T. Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 171(6):797-805 (2016)
PubMed American Journal of Medical Genetics Part B Neuropsychiatric Genetics
jPOST for Asia and Oceania: Re-analysis Protocol.
Yoshizawa, A. C., Tabata, T., Moriya, Y., Kawano, S., Okuda, S., Watanabe, Y., Yamamoto, T., Matsumoto, M., Takami, T., Kobayashi, D., Araki, N., Sugiyama, N., Goto, S., Ishihama, Y. jPOST for Asia and Oceania: Re-analysis Protocol. AOHUPO2016, Taiwan (2016/9).
jPOST for Asia and Oceania: Current Status in 2016.
Moriya, Y., Kawano, S., Okuda, S., Watanabe, Y., Yamamoto, T., Matsumoto, M., Takami, T., Kobayashi, D., Araki, N., Yoshizawa, A. C., Tabata, T., Sugiyama, N., Goto, S., Ishihama, Y. jPOST for Asia and Oceania: Current Status in 2016. AOHUPO2016, Taiwan (2016/9).
jPOST for Asia and Oceania: repository opened.
Okuda, S., Watanabe, Y., Moriya, Y., Kawano, S., Yamamoto, T., Matsumoto, M., Takami, T., Kobayashi, D., Araki, N., Yoshizawa, A. C., Tabata, T., Sugiyama, N., Goto, S., Ishihama, Y. jPOST for Asia and Oceania: repository opened. AOHUPO2016, Taiwan (2016/9).
jPOST: Re-analysis Protocol.
Yoshizawa, A. C., Tabata, T., Moriya, Y., Kawano, S., Okuda, S., Watanabe, Y., Yamamoto, T., Matsumoto, M., Takami, T., Kobayashi, D., Araki, N., Sugiyama, N., Goto, S., Ishihama, Y. jPOST: Re-analysis Protocol. HUPO2016, Taiwan (2016/9).
jPOST: Current Status in 2016.
Moriya, Y., Kawano, S., Okuda, S., Watanabe, Y., Yamamoto, T., Matsumoto, M., Takami, T., Kobayashi, D., Araki, N., Yoshizawa, A. C., Tabata, T., Sugiyama, N., Goto, S., Ishihama, Y. jPOST: Current Status in 2016. HUPO2016, Taiwan (2016/9).