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  1. Content type: Research

    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

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  2. Content type: Research

    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

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  3. Content type: Research

    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

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  4. Content type: Research

    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

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  5. Content type: Database

    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

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  6. Content type: Software

    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

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  7. Content type: Database

    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

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  8. Content type: Research

    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

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  9. Content type: Research article

    Parkinson’s disease (PD) is a long-term degenerative disease that is caused by environmental and genetic factors. The networks of genes and their regulators that control the progression and development of PD r...

    Authors: Lining Su, Chunjie Wang, Chenqing Zheng, Huiping Wei and Xiaoqing Song

    Citation: BMC Medical Genomics 2018 11:40

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  10. Content type: Research article

    Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes critical to neural tube clo...

    Authors: Zhongzhong Chen, Yunping Lei, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H. Finnell, Ting Zhang and Hongyan Wang

    Citation: BMC Medical Genomics 2018 11:38

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  11. Content type: Case report

    Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is kno...

    Authors: Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim and Rinkoo Dalan

    Citation: BMC Medical Genomics 2018 11:37

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  12. Content type: Research article

    The use of next-generation sequencing approaches in clinical diagnostics has led to a tremendous increase in data and a vast number of variants of uncertain significance that require interpretation. Therefore,...

    Authors: Corinna Ernst, Eric Hahnen, Christoph Engel, Michael Nothnagel, Jonas Weber, Rita K. Schmutzler and Jan Hauke

    Citation: BMC Medical Genomics 2018 11:35

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  13. Content type: Research article

    The presentation of HLA peptide complexes to T cells is a highly regulated and tissue specific process involving multiple transcriptionally controlled cellular components. The extensive polymorphism of HLA gen...

    Authors: Sebastian Boegel, Martin Löwer, Thomas Bukur, Patrick Sorn, John C. Castle and Ugur Sahin

    Citation: BMC Medical Genomics 2018 11:36

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  14. Content type: Research article

    Using high-dimensional penalized regression we studied genome-wide DNA-methylation in bone biopsies of 80 postmenopausal women in relation to their bone mineral density (BMD). The women showed BMD varying from...

    Authors: Tonje G. Lien, Ørnulf Borgan, Sjur Reppe, Kaare Gautvik and Ingrid Kristine Glad

    Citation: BMC Medical Genomics 2018 11:24

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  15. Content type: Research article

    Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To fi...

    Authors: Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X. Lim…

    Citation: BMC Medical Genomics 2018 11:23

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  16. Content type: Research article

    Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...

    Authors: Claudia Tamar Silva, Irina V. Zorkoltseva, Maartje N. Niemeijer, Marten E. van den Berg, Najaf Amin, Ayşe Demirkan, Elisa van Leeuwen, Adriana I. Iglesias, Laura B. Piñeros-Hernández, Carlos M. Restrepo, Jan A. Kors, Anatoly V. Kirichenko, Rob Willemsen, Ben A. Oostra, Bruno H. Stricker, André G. Uitterlinden…

    Citation: BMC Medical Genomics 2018 11:22

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  17. Content type: Research article

    Asthma exacerbations are an important cause of morbidity in asthma. Respiratory infections are often involved in asthma exacerbations in both children and adults. Some individuals with asthma have increased su...

    Authors: Jose L. Gomez, Maria P. Diaz, Gustavo Nino and Clemente J. Britto

    Citation: BMC Medical Genomics 2018 11:21

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  18. Content type: Research article

    Avian influenza A H5N1 virus can cause lethal disease in humans. The virus can trigger severe pneumonia and lead to acute respiratory distress syndrome. Data from clinical, in vitro and in vivo suggest that vi...

    Authors: Na Zhang, Yun-Juan Bao, Amy Hin-Yan Tong, Scott Zuyderduyn, Gary D. Bader, J. S. Malik Peiris, Si Lok and Suki Man-Yan Lee

    Citation: BMC Medical Genomics 2018 11:20

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  19. Content type: Research

    Laminins are a major family of extracellular matrix proteins and the main component of basement membranes. Laminins are involved in many if not all stages of cancer progression, and expression of laminin genes...

    Authors: Vladimir V. Galatenko, Diana V. Maltseva, Alexey V. Galatenko, Sergey Rodin and Alexander G. Tonevitsky

    Citation: BMC Medical Genomics 2018 11(Suppl 1):9

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    This article is part of a Supplement: Volume 11 Supplement 1

  20. Content type: Research

    Oscillations of different origin, period and amplitude play an important role in the regulation of cellular processes. Most widely studied is the circadian or approximately daily variation in gene expression a...

    Authors: Abeer Fadda, Mohammed El Anbari and Andrey Ptitsyn

    Citation: BMC Medical Genomics 2018 11(Suppl 1):14

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    This article is part of a Supplement: Volume 11 Supplement 1

  21. Content type: Case Report

    Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagno...

    Authors: Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev and Rena A. Zinchenko

    Citation: BMC Medical Genomics 2018 11(Suppl 1):8

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    This article is part of a Supplement: Volume 11 Supplement 1

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