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  1. Content type: Research article

    Non-alcoholic fatty liver disease (NAFLD) is a major health burden in need for new medication. To identify potential drug targets a genomic study was performed in lipid-laden primary human hepatocyte (PHH) and...

    Authors: Stephanie Breher-Esch, Nishika Sahini, Anna Trincone, Christin Wallstab and Jürgen Borlak

    Citation: BMC Medical Genomics 2018 11:111

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  2. Content type: Research article

    Large-scale “omics” datasets have not been leveraged and integrated with functional analyses to discover potential drivers of cardiomyopathy. This study addresses the knowledge gap.

    Authors: Nzali V. Campbell, David A. Weitzenkamp, Ian L. Campbell, Ronald F. Schmidt, Chindo Hicks, Michael J. Morgan, David C. Irwin and John J. Tentler

    Citation: BMC Medical Genomics 2018 11:110

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  3. Content type: Research article

    Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and ch...

    Authors: Panagiota Kontou, Athanasia Pavlopoulou, Georgia Braliou, Spyridoula Bogiatzi, Niki Dimou, Sripal Bangalore and Pantelis Bagos

    Citation: BMC Medical Genomics 2018 11:109

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  4. Content type: Research

    While continental level ancestry is relatively simple using genomic information, distinguishing between individuals from closely associated sub-populations (e.g., from the same continent) is still a difficult ...

    Authors: Tanjin T. Toma, Jeremy M. Dawson and Donald A. Adjeroh

    Citation: BMC Medical Genomics 2018 11(Suppl 5):0

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    This article is part of a Supplement: Volume 11 Supplement 5

  5. Content type: Research

    Breast cancer is the most common type of invasive cancer in woman. It accounts for approximately 18% of all cancer deaths worldwide. It is well known that somatic mutation plays an essential role in cancer dev...

    Authors: Yifan Zhang, William Yang, Dan Li, Jack Y Yang, Renchu Guan and Mary Qu Yang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):104

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    This article is part of a Supplement: Volume 11 Supplement 5

  6. Content type: Research

    With the development of sequencing technology, more and more long non-coding RNAs (lncRNAs) have been identified. Some lncRNAs have been confirmed that they play an important role in the process of development...

    Authors: Jingpu Zhang, shuai Zou and Lei Deng

    Citation: BMC Medical Genomics 2018 11(Suppl 5):99

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    This article is part of a Supplement: Volume 11 Supplement 5

  7. Content type: Research

    The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the ...

    Authors: Jingyi Shi, Mingna Zheng, Lixia Yao and Yaorong Ge

    Citation: BMC Medical Genomics 2018 11(Suppl 5):102

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    This article is part of a Supplement: Volume 11 Supplement 5

  8. Content type: Research

    Non-small cell lung cancer (NSCLC) represents more than about 80% of the lung cancer. The early stages of NSCLC can be treated with complete resection with a good prognosis. However, most cases are detected at...

    Authors: Dan Li, William Yang, Yifan Zhang, Jack Y Yang, Renchu Guan, Dong Xu and Mary Qu Yang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):106

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    This article is part of a Supplement: Volume 11 Supplement 5

  9. Content type: Research

    The clinical decision support system can effectively break the limitations of doctors’ knowledge and reduce the possibility of misdiagnosis to enhance health care. The traditional genetic data storage and anal...

    Authors: Bo Xu, Changlong Li, Hang Zhuang, Jiali Wang, Qingfeng Wang, Chao Wang and Xuehai Zhou

    Citation: BMC Medical Genomics 2018 11(Suppl 5):100

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    This article is part of a Supplement: Volume 11 Supplement 5

  10. Content type: Research

    A protein family has similar and diverse functions locally conserved. An aligned pattern cluster (APC) can reflect the conserved functionality. Discovering aligned residue associations (ARAs) in APCs can revea...

    Authors: Pei-Yuan Zhou, Antonio Sze-To and Andrew K. C. Wong

    Citation: BMC Medical Genomics 2018 11(Suppl 5):103

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    This article is part of a Supplement: Volume 11 Supplement 5

  11. Content type: Research

    Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occur...

    Authors: Bing Feng, William Hoskins, Yan Zhang, Zibo Meng, David C. Samuels, Jiandong Wang, Ruofan Xia, Chao Liu, Jijun Tang and Yan Guo

    Citation: BMC Medical Genomics 2018 11(Suppl 5):105

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    This article is part of a Supplement: Volume 11 Supplement 5

  12. Content type: Research

    Miniature inverted-repeat transposable element (MITE) is a type of class II non-autonomous transposable element playing a crucial role in the process of evolution in biology. There is an urgent need to develop...

    Authors: Jialu Hu, Yan Zheng and Xuequn Shang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):101

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    This article is part of a Supplement: Volume 11 Supplement 5

  13. Content type: Technical advance

    The integration of high-quality, genome-wide analyses offers a robust approach to elucidating genetic factors involved in complex human diseases. Even though several methods exist to integrate heterogeneous om...

    Authors: Haley R. Eidem, Jacob L. Steenwyk, Jennifer H. Wisecaver, John A. Capra, Patrick Abbot and Antonis Rokas

    Citation: BMC Medical Genomics 2018 11:107

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  14. Content type: Research article

    BAP1 is a histone deubiquitinase that acts as a tumor and metastasis suppressor associated with disease progression in human cancer. We have used the “Calling Card System” of transposase-directed transposon in...

    Authors: Matthew Yen, Zongtai Qi, Xuhua Chen, John A. Cooper, Robi D. Mitra and Michael D. Onken

    Citation: BMC Medical Genomics 2018 11:97

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  15. Content type: Research article

    Recent large-scale cancer sequencing studies have discovered many novel cancer driver genes (CDGs) in human cancers. Some studies also suggest that CDG mutations contribute to cancer-associated epigenomic and ...

    Authors: Ahrim Youn, Kyung In Kim, Raul Rabadan, Benjamin Tycko, Yufeng Shen and Shuang Wang

    Citation: BMC Medical Genomics 2018 11:98

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  16. Content type: Research article

    Glioblastoma multiforme, the most prevalent and aggressive brain tumour, has a poor prognosis. The molecular mechanisms underlying gliomagenesis remain poorly understood. Therefore, molecular research, includi...

    Authors: Pengfei Xu, Jian Yang, Junhui Liu, Xue Yang, Jianming Liao, Fanen Yuan, Yang Xu, Baohui Liu and Qianxue Chen

    Citation: BMC Medical Genomics 2018 11:96

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  17. Content type: Database

    Nucleotide Excision Repair (NER) is a major pathway of mammalian DNA repair that is associated with drug resistance and has not been well characterized in acute lymphoblastic leukemia (ALL). The objective of t...

    Authors: Omar M. Ibrahim, Homood M. As Sobeai, Stephen G. Grant and Jean J. Latimer

    Citation: BMC Medical Genomics 2018 11:95

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  18. Content type: Research article

    Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal...

    Authors: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham…

    Citation: BMC Medical Genomics 2018 11:93

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  19. Content type: Case report

    Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical featu...

    Authors: Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang and Xiu Xu

    Citation: BMC Medical Genomics 2018 11:92

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  20. Content type: Technical advance

    Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe...

    Authors: Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin and Nigel F. Delaney

    Citation: BMC Medical Genomics 2018 11:91

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  21. Content type: Research article

    Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. Hig...

    Authors: Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty and Dale Muzzey

    Citation: BMC Medical Genomics 2018 11:90

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  22. Content type: Research

    One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic data. More precisely, given a list of approximately 1500 patien...

    Authors: Hao Chen, Ran Gilad-Bachrach, Kyoohyung Han, Zhicong Huang, Amir Jalali, Kim Laine and Kristin Lauter

    Citation: BMC Medical Genomics 2018 11(Suppl 4):81

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    This article is part of a Supplement: Volume 11 Supplement 4

  23. Content type: Research

    Security concerns have been raised since big data became a prominent tool in data analysis. For instance, many machine learning algorithms aim to generate prediction models using training data which contain se...

    Authors: Andrey Kim, Yongsoo Song, Miran Kim, Keewoo Lee and Jung Hee Cheon

    Citation: BMC Medical Genomics 2018 11(Suppl 4):83

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    This article is part of a Supplement: Volume 11 Supplement 4

  24. Content type: Research

    Logistic regression is a popular technique used in machine learning to construct classification models. Since the construction of such models is based on computing with large datasets, it is an appealing idea ...

    Authors: Charlotte Bonte and Frederik Vercauteren

    Citation: BMC Medical Genomics 2018 11(Suppl 4):86

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    This article is part of a Supplement: Volume 11 Supplement 4

  25. Content type: Technical advance

    Practical applications for data analysis may require combining multiple databases belonging to different owners, such as health centers. The analysis should be performed without violating privacy of neither th...

    Authors: Peeter Laud and Alisa Pankova

    Citation: BMC Medical Genomics 2018 11(Suppl 4):84

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    This article is part of a Supplement: Volume 11 Supplement 4

  26. Content type: Research

    One of the 3 tracks of iDASH Privacy & Security Workshop 2017 competition was to execute a whole genome variants search on private genomic data. Particularly, the search application was to find the top most si...

    Authors: Sergiu Carpov and Thibaud Tortech

    Citation: BMC Medical Genomics 2018 11(Suppl 4):82

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    This article is part of a Supplement: Volume 11 Supplement 4

  27. Content type: Database

    Bladder cancer has numerous genomic features that are potentially actionable by targeted agents. Nevertheless, both pre-clinical and clinical research using molecular targeted agents have been very limited in ...

    Authors: Adnan Ahmad Ansari, Inkeun Park, Inki Kim, Sojung Park, Sung-Min Ahn and Jae-lyun Lee

    Citation: BMC Medical Genomics 2018 11:88

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  28. Content type: Case report

    Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain ...

    Authors: Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin and Stefano Bastianello

    Citation: BMC Medical Genomics 2018 11:87

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  29. Content type: Research article

    The transition from ductal carcinoma in situ (DCIS) to invasive breast carcinoma (IBC) is an important step during breast carcinogenesis. Understanding its molecular changes may help to identify high-risk DCIS...

    Authors: Silke Schultz, Harald Bartsch, Karl Sotlar, Karina Petat-Dutter, Michael Bonin, Steffen Kahlert, Nadia Harbeck, Ulrich Vogel, Harald Seeger, Tanja Fehm and Hans J. Neubauer

    Citation: BMC Medical Genomics 2018 11:80

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  30. Content type: Research

    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

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

  31. Content type: Research

    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

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

  32. Content type: Research

    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

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

  33. Content type: Research

    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

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

  34. Content type: Research

    RNA-seq is the most commonly used sequencing application. Not only does it measure gene expression but it is also an excellent media to detect important structural variants such as single nucleotide variants (...

    Authors: Naresh Prodduturi, Aditya Bhagwate, Jean-Pierre A. Kocher and Zhifu Sun

    Citation: BMC Medical Genomics 2018 11(Suppl 3):67

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

  35. Content type: Research

    Understanding the effect of human genetic variations on disease can provide insight into phenotype-genotype relationships, and has great potential for improving the effectiveness of personalized medicine. Whil...

    Authors: Ann G. Cirincione, Kaylyn L. Clark and Maricel G. Kann

    Citation: BMC Medical Genomics 2018 11(Suppl 3):75

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

  36. Content type: Research

    Alzheimer’s disease (AD) is one of the most common neurodegenerative diseases that causes problems related to brain function. To some extent it is understood on a molecular level how AD arises, however there a...

    Authors: Jason E. Miller, Manu K. Shivakumar, Younghee Lee, Seonggyun Han, Emrin Horgousluoglu, Shannon L. Risacher, Andrew J. Saykin, Kwangsik Nho and Dokyoon Kim

    Citation: BMC Medical Genomics 2018 11(Suppl 3):76

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

  37. Content type: Research article

    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

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  38. Content type: Research article

    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

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  39. Content type: Research article

    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

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  40. Content type: Research article

    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

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  41. Content type: Case report

    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

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  42. Content type: Research article

    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

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  43. Content type: Research article

    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

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  44. Content type: Database

    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

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