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Volume 9 Supplement 1

Selected articles from the 5th Translational Bioinformatics Conference (TBC 2015): medical genomics


Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. Articles have undergone the journal’s standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.

Tokyo, Japan7-9 November 2015

Conference website

Edited by Ju Han Kim and Maricel Kann 

Other articles from the conference have been published as a supplement to BMC Medical Informatics and Decision Making

  1. Pathogenic mutations in PSEN1 are known to cause familial early-onset Alzheimer’s disease (EOAD) but common variants in PSEN1 have not been found to strongly influence late-onset AD (LOAD). The association of rar...

    Authors: Kwangsik Nho, Emrin Horgusluoglu, Sungeun Kim, Shannon L. Risacher, Dokyoon Kim, Tatiana Foroud, Paul S. Aisen, Ronald C. Petersen, Clifford R. Jack Jr., Leslie M. Shaw, John Q. Trojanowski, Michael W. Weiner, Robert C. Green, Arthur W. Toga and Andrew J. Saykin

    Citation: BMC Medical Genomics 2016 9(Suppl 1):30

    Content type: Research

    Published on:

  2. We explored premature stop-gain variants to test the hypothesis that variants, which are likely to have a consequence on protein structure and function, will reveal important insights with respect to the pheno...

    Authors: Anurag Verma, Shefali S. Verma, Sarah A. Pendergrass, Dana C. Crawford, David R. Crosslin, Helena Kuivaniemi, William S. Bush, Yuki Bradford, Iftikhar Kullo, Suzette J. Bielinski, Rongling Li, Joshua C. Denny, Peggy Peissig, Scott Hebbring, Mariza De Andrade, Marylyn D. Ritchie…

    Citation: BMC Medical Genomics 2016 9(Suppl 1):32

    Content type: Research

    Published on:

  3. The increasing availability of multiple types of genomic profiles measured from the same cancer patients has provided numerous opportunities for investigating genomic mechanisms underlying cancer. In particula...

    Authors: Reddy Rani Vangimalla, Hyun-hwan Jeong and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2016 9(Suppl 1):31

    Content type: Research

    Published on:

  4. Multifunctional transcription factor (TF) gene EWS/EWSR1 is involved in various cellular processes such as transcription regulation, noncoding RNA regulation, splicing regulation, genotoxic stress response, and c...

    Authors: Chai-Jin Lee, Hongryul Ahn, Sean Bong Lee, Jong-Yeon Shin, Woong-Yang Park, Jong-Il Kim, Junghee Lee, Hoon Ryu and Sun Kim

    Citation: BMC Medical Genomics 2016 9(Suppl 1):33

    Content type: Research

    Published on:

  5. Kawasaki disease (KD) is an autoimmune disease preferentially attacking children younger than five years worldwide. So far, the principal treatment to KD is the administration of Intravenous immunoglobulin (IV...

    Authors: Sung-Chou Li, Wen-Ching Chan, Ying-Hsien Huang, Mindy Ming-Huey Guo, Hong-Ren Yu, Fu-Chen Huang, Hsing-Chun Kuo and Ho-Chang Kuo

    Citation: BMC Medical Genomics 2016 9(Suppl 1):37

    Content type: Research

    Published on:

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