Skip to main content

Volume 11 Supplement 2

Proceedings of the 28th International Conference on Genome Informatics: 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. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editor declares that they have no competing interests.

Seoul, Korea31 October - 3 November 2017

Conference website

Edited by Namshin Kim.

Related articles have been published in supplements to​​​​​​​ BMC Bioinformatics and BMC Systems Biology.

  1. Reliable detection of genome variations, especially insertions and deletions (indels), from single sample DNA sequencing data remains challenging, partially due to the inherent uncertainty involved in aligning...

    Authors: Tony Kuo, Martin C. Frith, Jun Sese and Paul Horton

    Citation: BMC Medical Genomics 2018 11(Suppl 2):28

    Content type: Research

    Published on:

  2. Recent statistical methods for next generation sequencing (NGS) data have been successfully applied to identifying rare genetic variants associated with certain diseases. However, most commonly used methods (e...

    Authors: Joowon Lee, Seungyeoun Lee, Jin-Young Jang and Taesung Park

    Citation: BMC Medical Genomics 2018 11(Suppl 2):30

    Content type: Research

    Published on:

  3. A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies—from heritability estima...

    Authors: Sungyoung Lee, Sungkyoung Choi, Dandi Qiao, Michael Cho, Edwin K. Silverman, Taesung Park and Sungho Won

    Citation: BMC Medical Genomics 2018 11(Suppl 2):39

    Content type: Research

    Published on:

  4. Embedding techniques for converting high-dimensional sparse data into low-dimensional distributed representations have been gaining popularity in various fields of research. In deep learning models, embedding ...

    Authors: Sunkyu Kim, Heewon Lee, Keonwoo Kim and Jaewoo Kang

    Citation: BMC Medical Genomics 2018 11(Suppl 2):33

    Content type: Research

    Published on:

  5. With the advancement of next generation sequencing technology, researchers are now able to identify important variants and structural changes in DNA and RNA in cancer patient samples. With this information, we...

    Authors: Jennifer D. Hintzsche, Minjae Yoo, Jihye Kim, Carol M. Amato, William A. Robinson and Aik Choon Tan

    Citation: BMC Medical Genomics 2018 11(Suppl 2):26

    Content type: Database

    Published on:

  6. Meiotic recombination happens during the process of meiosis when chromosomes inherited from two parents exchange genetic materials to generate chromosomes in the gamete cells. The recombination events tend to ...

    Authors: Jing Guo, Hao Chen, Peng Yang, Yew Ti Lee, Min Wu, Teresa M. Przytycka, Chee Keong Kwoh and Jie Zheng

    Citation: BMC Medical Genomics 2018 11(Suppl 2):27

    Content type: Database

    Published on:

  7. Increasing affordability of next-generation sequencing (NGS) has created an opportunity for realizing genomically-informed personalized cancer therapy as a path to precision oncology. However, the complex natu...

    Authors: Yeongjun Jang, Taekjin Choi, Jongho Kim, Jisub Park, Jihae Seo, Sangok Kim, Yeajee Kwon, Seungjae Lee and Sanghyuk Lee

    Citation: BMC Medical Genomics 2018 11(Suppl 2):34

    Content type: Software

    Published on:

  8. The Cancer Genome Atlas (TCGA) project is a public resource that provides transcriptomic, DNA sequence, methylation, and clinical data for 33 cancer types. Transforming the large size and high complexity of TC...

    Authors: Seonggyun Han, Dongwook Kim, Youngjun Kim, Kanghoon Choi, Jason E. Miller, Dokyoon Kim and Younghee Lee

    Citation: BMC Medical Genomics 2018 11(Suppl 2):25

    Content type: Research

    Published on:

Annual Journal Metrics


As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.