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  1. Large-scale collaborative precision medicine initiatives (e.g., The Cancer Genome Atlas (TCGA)) are yielding rich multi-omics data. Integrative analyses of the resulting multi-omics data, such as somatic mutat...

    Authors: Yasser EL-Manzalawy, Tsung-Yu Hsieh, Manu Shivakumar, Dokyoon Kim and Vasant Honavar
    Citation: BMC Medical Genomics 2018 11(Suppl 3):71
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  2. Glaucoma is a leading cause of blindness in developed countries. Primary open-angle glaucoma (POAG), the most prevalent clinical subtype of glaucoma in the United States, affects African Americans at a higher ...

    Authors: Nicole A. Restrepo, Sarah M. Laper, Eric Farber-Eger and Dana C. Crawford
    Citation: BMC Medical Genomics 2018 11(Suppl 3):70
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  3. Integrative analysis on multi-omics data has gained much attention recently. To investigate the interactive effect of gene expression and DNA methylation on cancer, we propose a directed random walk-based appr...

    Authors: So Yeon Kim, Tae Rim Kim, Hyun-Hwan Jeong and Kyung-Ah Sohn
    Citation: BMC Medical Genomics 2018 11(Suppl 3):68
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  4. High levels of triglycerides (TG ≥200 mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. Precision m...

    Authors: Dana C. Crawford, Nicole A. Restrepo, Kirsten E. Diggins, Eric Farber-Eger and Quinn S. Wells
    Citation: BMC Medical Genomics 2018 11(Suppl 3):66
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  6. CRISPR/CAS9 (epi)genome editing revolutionized the field of gene and cell therapy. Our previous study demonstrated that a rapid and robust reactivation of the HIV latent reservoir by a catalytically-deficient ...

    Authors: Yonggang Zhang, Gustavo Arango, Fang Li, Xiao Xiao, Raj Putatunda, Jun Yu, Xiao-Feng Yang, Hong Wang, Layne T. Watson, Liqing Zhang and Wenhui Hu
    Citation: BMC Medical Genomics 2018 11:78
    Content type: Research article Published on:

  7. Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common f...

    Authors: Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel and Sally J. Dawson
    Citation: BMC Medical Genomics 2018 11:77
    Content type: Research article Published on:

  9. Lymph node metastasis is one of the most important prognostic factors in head and neck squamous cell carcinomas (HNSCCs) and critical for delineating their treatment. However, clinical and histological criteri...

    Authors: Alessandra Vidotto, Giovana M. Polachini, Marina de Paula-Silva, Sonia M. Oliani, Tiago Henrique, Rossana V. M. López, Patrícia M. Cury, Fabio D. Nunes, José F. Góis-Filho, Marcos B. de Carvalho, Andréia M. Leopoldino and Eloiza H. Tajara
    Citation: BMC Medical Genomics 2018 11:73
    Content type: Research article Published on:

  10. Moyamoya disease (MMD) is characterized by progressive stenosis of intracranial arteries in the circle of Willis with unknown etiology even after the identification of a Moyamoya susceptible gene, RNF213. Rece...

    Authors: Haruto Uchino, Masaki Ito, Ken Kazumata, Yuka Hama, Shuji Hamauchi, Shunsuke Terasaka, Hidenao Sasaki and Kiyohiro Houkin
    Citation: BMC Medical Genomics 2018 11:72
    Content type: Research article Published on:

  11. Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in ph...

    Authors: Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska and Olga Haus
    Citation: BMC Medical Genomics 2018 11:69
    Content type: Case report Published on:

  12. Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for...

    Authors: Neda Stjepanovic, Tracy L. Stockley, Philippe L. Bedard, Jeanna M. McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B. Leighl, Raymond Jang, Monika K. Krzyzanowska, Amit M. Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid…
    Citation: BMC Medical Genomics 2018 11:65
    Content type: Research article Published on:

  13. Gestational diabetes (GDM) is a more common problem in India than in many other parts of the world but it is not known whether this is due to unique environmental factors or a unique genetic background. To add...

    Authors: Geeti P. Arora, Peter Almgren, Charlotte Brøns, Richa G. Thaman, Allan A. Vaag, Leif Groop and Rashmi B. Prasad
    Citation: BMC Medical Genomics 2018 11:64
    Content type: Research article Published on:

  14. The Cancer Genome Atlas (TCGA) is an important data resource for cancer biologists and oncologists. However, a lack of bioinformatics expertise often hinders experimental cancer biologists and oncologists from...

    Authors: Qingrong Sun, Mengyuan Li and Xiaosheng Wang
    Citation: BMC Medical Genomics 2018 11:63
    Content type: Database Published on:

    The Correction to this article has been published in BMC Medical Genomics 2018 11:74

  15. Cellular changes described in human gastroparesis have revealed a role for immune dysregulation, however, a mechanistic understanding of human gastroparesis and the signaling pathways involved are still unclear.

    Authors: Madhusudan Grover, Simon J. Gibbons, Asha A. Nair, Cheryl E. Bernard, Adeel S. Zubair, Seth T. Eisenman, Laura A. Wilson, Laura Miriel, Pankaj J. Pasricha, Henry P. Parkman, Irene Sarosiek, Richard W. McCallum, Kenneth L. Koch, Thomas L. Abell, William J. Snape, Braden Kuo…
    Citation: BMC Medical Genomics 2018 11:62
    Content type: Research article Published on:

  16. Giant cell arteritis (GCA) is the most common form of vasculitis affecting elderly people. It is one of the few true ophthalmic emergencies but symptoms and signs are variable thereby making it a challenging d...

    Authors: Elisabeth De Smit, Samuel W. Lukowski, Lisa Anderson, Anne Senabouth, Kaisar Dauyey, Sharon Song, Bruce Wyse, Lawrie Wheeler, Christine Y. Chen, Khoa Cao, Amy Wong Ten Yuen, Neil Shuey, Linda Clarke, Isabel Lopez Sanchez, Sandy S. C. Hung, Alice Pébay…
    Citation: BMC Medical Genomics 2018 11:61
    Content type: Research article Published on:

  17. The proto-oncogene KRAS performs an essential function in normal tissue signaling, and the mutation of KRAS gene is a key step in the development of many cancers. Somatic KRAS mutations are often detected in p...

    Authors: Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang and Zhilong Yan
    Citation: BMC Medical Genomics 2018 11:60
    Content type: Case report Published on:

  18. Elevated blood pressure is an important risk factor for cardiovascular disease and is also an important factor in global mortality. Military pilots are at high risk of cardiovascular disease because they under...

    Authors: Xing-Cheng Zhao, Shao-Hua Yang, Yi-Quan Yan, Xin Zhang, Lin Zhang, Bo Jiao, Shuai Jiang and Zhi-Bin Yu
    Citation: BMC Medical Genomics 2018 11:59
    Content type: Research article Published on:

  19. Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accur...

    Authors: Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell…
    Citation: BMC Medical Genomics 2018 11:58
    Content type: Research article Published on:

  20. One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering...

    Authors: Aditya Rao, Saipradeep VG, Thomas Joseph, Sujatha Kotte, Naveen Sivadasan and Rajgopal Srinivasan
    Citation: BMC Medical Genomics 2018 11:57
    Content type: Research article Published on:

  21. Cerebral palsy (CP) is the leading cause of motor disability in children; however, its pathogenesis is unknown in most cases. Growing evidence suggests that Nitric oxide synthase 1 (NOS1) is involved in neural...

    Authors: Ting Yu, Lei Xia, Dan Bi, Yangong Wang, Qing Shang, Dengna Zhu, Juan Song, Yong Wang, Xiaoyang Wang, Changlian Zhu and Qinghe Xing
    Citation: BMC Medical Genomics 2018 11:56
    Content type: Research article Published on:

  22. Recently, 34 genes had been associated with differential expression relative to blood pressure (BP)/ hypertension (HTN). We hypothesize that some of the genes associated with BP/HTN are also associated with BP...

    Authors: Ana Caroline C. Sá, Amy Webb, Yan Gong, Caitrin W. McDonough, Mohamed H. Shahin, Somnath Datta, Taimour Y. Langaee, Stephen T. Turner, Amber L. Beitelshees, Arlene B. Chapman, Eric Boerwinkle, John G. Gums, Steven E. Scherer, Rhonda M. Cooper-DeHoff, Wolfgang Sadee and Julie A. Johnson
    Citation: BMC Medical Genomics 2018 11:55
    Content type: Research article Published on:

  23. Common metabolic diseases, including type 2 diabetes, coronary artery disease, and hypertension, arise from disruptions of the body’s metabolic homeostasis, with relatively strong contributions from genetic ri...

    Authors: Hyung Jun Woo and Jaques Reifman
    Citation: BMC Medical Genomics 2018 11:54
    Content type: Research article Published on:

  25. Generalized pustular psoriasis (GPP) is a rare, episodic, potentially life-threatening inflammatory disease. However, the pathogenesis of GPP, and universally accepted therapies for treating it, remain undefined.

    Authors: Lingyan Wang, Xiaoling Yu, Chao Wu, Teng Zhu, Wenming Wang, Xiaofeng Zheng and Hongzhong Jin
    Citation: BMC Medical Genomics 2018 11:52
    Content type: Research article Published on:

  27. In children with sensory processing dysfunction (SPD), who do not meet criteria for autism spectrum disorder (ASD) or intellectual disability, the contribution of de novo pathogenic mutation in neurodevelopmen...

    Authors: Elysa Jill Marco, Anne Brandes Aitken, Vishnu Prakas Nair, Gilberto da Gente, Molly Rae Gerdes, Leyla Bologlu, Sean Thomas and Elliott H. Sherr
    Citation: BMC Medical Genomics 2018 11:50
    Content type: Research article Published on:

  28. Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier te...

    Authors: Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang…
    Citation: BMC Medical Genomics 2018 11:49
    Content type: Research article Published on:

  29. There is a paucity of knowledge concerning erythrocytes in the aetiology of Multiple Sclerosis (MS) despite their potential to contribute to disease through impaired antioxidant capacity and altered haemorheol...

    Authors: Kira Groen, Vicki E. Maltby, Rodney A. Lea, Katherine A. Sanders, J. Lynn Fink, Rodney J. Scott, Lotti Tajouri and Jeannette Lechner-Scott
    Citation: BMC Medical Genomics 2018 11:48
    Content type: Research article Published on:

  30. Plasma neurofilament light (NFL) is a promising biomarker for Alzheimer disease (AD), which increases in the early stage of AD and is associated with the progression of AD. We performed a genome-wide associati...

    Authors: Jie-Qiong Li, Xiang-Zhen Yuan, Hai-Yan Li, Xi-Peng Cao, Jin-Tai Yu, Lan Tan and Wei-An Chen
    Citation: BMC Medical Genomics 2018 11:47
    Content type: Research article Published on:

  31. The most frequent chromosomal aneuploidy is trisomy 21 (T21) that is caused by an extra copy of chromosome 21. The imbalance of whole genome including genes and microRNAs contributes to the various phenotypes ...

    Authors: Ji Hyae Lim, You Jung Han, Hyun Jin Kim, Moon Young Kim, So Yeon Park, Youl-Hee Cho and Hyun Mee Ryu
    Citation: BMC Medical Genomics 2018 11:46
    Content type: Research article Published on:

  32. Current medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this technology, the process of disclosure of genomic results to patients...

    Authors: Julia Wynn, Katie Lewis, Laura M. Amendola, Barbara A. Bernhardt, Sawona Biswas, Manasi Joshi, Carmit McMullen and Sarah Scollon
    Citation: BMC Medical Genomics 2018 11:45
    Content type: Research article Published on:

  33. Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytoge...

    Authors: C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke and V. H. W. Dissanayake
    Citation: BMC Medical Genomics 2018 11:44
    Content type: Case report Published on:

  34. Genetic variations in apolipoprotein E (APOE) and proximal genes (PVRL2, TOMM40, and APOC1) are associated with cognitive function and dementia, particularly Alzheimer’s disease. Epigenetic mechanisms such as DNA...

    Authors: Jiaxuan Liu, Wei Zhao, Erin B. Ware, Stephen T. Turner, Thomas H. Mosley and Jennifer A. Smith
    Citation: BMC Medical Genomics 2018 11:43
    Content type: Research article Published on:

  35. Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern ...

    Authors: Mitsuko Furuya, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka and Yukio Nakatani
    Citation: BMC Medical Genomics 2018 11:42
    Content type: Case report Published on:

  36. Decapping of mRNA is an important step in the regulation of mRNA turnover and therefore of gene expression, which is a key process controlling development and homeostasis of all organisms. It has been shown th...

    Authors: Ute Scheller, Kathrin Pfisterer, Steffen Uebe, Arif B. Ekici, André Reis, Rami Jamra and Fulvia Ferrazzi
    Citation: BMC Medical Genomics 2018 11:41
    Content type: Research article Published on:

  37. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  38. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  39. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  40. Gene-gene interactions (GGIs) are a known cause of missing heritability. Multifactor dimensionality reduction (MDR) is one of most commonly used methods for GGI detection. The generalized multifactor dimension...

    Authors: Hye-Young Jung, Sangseob Leem and Taesung Park
    Citation: BMC Medical Genomics 2018 11(Suppl 2):32
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 2

  41. Survival analysis methods have been widely applied in different areas of health and medicine, spanning over varying events of interest and target diseases. They can be utilized to provide relationships between...

    Authors: Raissa T. Relator, Aika Terada and Jun Sese
    Citation: BMC Medical Genomics 2018 11(Suppl 2):31
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 2

  42. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  43. It is well recognized that accumulation of somatic mutations in cancer genomes plays a role in carcinogenesis; however, the temporal sequence and evolutionary relationship of somatic mutations remain largely u...

    Authors: Je-Keun Rhee and Tae-Min Kim
    Citation: BMC Medical Genomics 2018 11(Suppl 2):29
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 2

  44. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  45. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  46. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  47. 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:

    This article is part of a Supplement: Volume 11 Supplement 2

  48. 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
    Content type: Research article Published on:

  49. 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
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:29

  50. 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
    Content type: Case report Published on:
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