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  1. The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for ...

    Authors: Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic and Almir Badnjevic
    Citation: BMC Medical Genomics 2018 11:19
  2. Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving ...

    Authors: Anastasiya V. Snezhkina, Elena N. Lukyanova, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexey A. Dmitriev, Nadezhda V. Koroban, Elena A. Pudova, Maria S. Fedorova, Nadezhda N. Volchenko, Oleg A. Stepanov, Ekaterina A. Zhevelyuk, Sergey L. Kharitonov, Anastasiya V. Lipatova, Ivan S. Abramov, Alexander V. Golovyuk, Yegor E. Yegorov…
    Citation: BMC Medical Genomics 2018 11(Suppl 1):17

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

  3. Cell-free circulating DNA (cfDNA) is becoming a useful biopsy for noninvasive diagnosis of diseases. Microbial sequences in plasma cfDNA may provide important information to improve prognosis and treatment. We...

    Authors: Yu-Feng Huang, Yen-Ju Chen, Tan-Chi Fan, Nai-Chuan Chang, Yi-Jie Chen, Mohit K. Midha, Tzu-Han Chen, Hsiao-Hsiang Yang, Yu-Tai Wang, Alice L. Yu and Kuo-Ping Chiu
    Citation: BMC Medical Genomics 2018 11(Suppl 1):16

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

  4. Hypertension and bronchial asthma are a major issue for people’s health. As of 2014, approximately one billion adults, or ~ 22% of the world population, have had hypertension. As of 2011, 235–330 million peopl...

    Authors: Olga V. Saik, Pavel S. Demenkov, Timofey V. Ivanisenko, Elena Yu Bragina, Maxim B. Freidin, Irina A. Goncharova, Victor E. Dosenko, Olga I. Zolotareva, Ralf Hofestaedt, Inna N. Lavrik, Evgeny I. Rogaev and Vladimir A. Ivanisenko
    Citation: BMC Medical Genomics 2018 11(Suppl 1):15

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

  5. Small molecule Nutlin-3 reactivates p53 in cancer cells by interacting with the complex between p53 and its repressor Mdm-2 and causing an increase in cancer cell apoptosis. Therefore, Nutlin-3 has potent anti...

    Authors: Ulyana Boyarskikh, Sergey Pintus, Nikita Mandrik, Daria Stelmashenko, Ilya Kiselev, Ivan Evshin, Ruslan Sharipov, Philip Stegmaier, Fedor Kolpakov, Maxim Filipenko and Alexander Kel
    Citation: BMC Medical Genomics 2018 11(Suppl 1):12

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

  6. Human aging is a hot topic in biology, and it has been associated with DNA methylation changes at specific genomic sites. We aimed to study the changes of DNA methylation at a single-CpG-site resolution using ...

    Authors: Qian Zeng, Xiaoping Chen, Chaoxue Ning, Qiao Zhu, Yao Yao, Yali Zhao and Fuxin Luan
    Citation: BMC Medical Genomics 2018 11:7
  7. We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytica...

    Authors: John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee…
    Citation: BMC Medical Genomics 2018 11:6
  8. To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, “Practical Analysis of Yo...

    Authors: Michael D. Linderman, Saskia C. Sanderson, Ali Bashir, George A. Diaz, Andrew Kasarskis, Randi Zinberg, Milind Mahajan, Sabrina A. Suckiel, Micol Zweig and Eric E. Schadt
    Citation: BMC Medical Genomics 2018 11:5
  9. Ritodrine is a commonly used tocolytic to prevent preterm labour. However, it can cause unexpected serious adverse reactions, such as pulmonary oedema, pulmonary congestion, and tachycardia. It is unknown whet...

    Authors: Heewon Seo, Eun Jin Kwon, Young-Ah You, Yoomi Park, Byung Joo Min, Kyunghun Yoo, Han-Sung Hwang, Ju Han Kim and Young Ju Kim
    Citation: BMC Medical Genomics 2018 11:4
  10. Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple ...

    Authors: Takashi Kido, Weronika Sikora-Wohlfeld, Minae Kawashima, Shinichi Kikuchi, Naoyuki Kamatani, Anil Patwardhan, Richard Chen, Marina Sirota, Keiichi Kodama, Dexter Hadley and Atul J. Butte
    Citation: BMC Medical Genomics 2018 11:3
  11. Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with rel...

    Authors: Liesl M. Hendry, Venesa Sahibdeen, Ananyo Choudhury, Shane A. Norris, Michèle Ramsay and Zané Lombard
    Citation: BMC Medical Genomics 2018 11:2
  12. Cardiovascular disease and its sequelae are major causes of global mortality, and better methods are needed to identify patients at risk for future cardiovascular events. Gene expression analysis can inform on...

    Authors: James A. Wingrove, Karen Fitch, Brian Rhees, Steven Rosenberg and Deepak Voora
    Citation: BMC Medical Genomics 2018 11:1
  13. Sessile serrated adenomas/polyps are distinguished from hyperplastic colonic polyps subjectively by their endoscopic appearance and histological morphology. However, hyperplastic and sessile serrated polyps ca...

    Authors: Yasir Rahmatallah, Magomed Khaidakov, Keith K. Lai, Hannah E. Goyne, Laura W. Lamps, Curt H. Hagedorn and Galina Glazko
    Citation: BMC Medical Genomics 2017 10:81
  14. Identifying protein complexes plays an important role for understanding cellular organization and functional mechanisms. As plenty of evidences have indicated that dense sub-networks in dynamic protein-protein...

    Authors: Xiujuan Lei, Huan Li, Aidong Zhang and Fang-Xiang Wu
    Citation: BMC Medical Genomics 2017 10(Suppl 5):80

    This article is part of a Supplement: Volume 10 Supplement 5

  15. Prediction of drug-disease interactions is promising for either drug repositioning or disease treatment fields. The discovery of novel drug-disease interactions, on one hand can help to find novel indictions f...

    Authors: Guangsheng Wu, Juan Liu and Caihua Wang
    Citation: BMC Medical Genomics 2017 10(Suppl 5):79

    This article is part of a Supplement: Volume 10 Supplement 5

  16. A large number of long intergenic non-coding RNAs (lincRNAs) are linked to a broad spectrum of human diseases. The disease association with many other lincRNAs still remain as puzzle. Validation of such links ...

    Authors: Ashis Kumer Biswas, Dongchul Kim, Mingon Kang, Chris Ding and Jean X. Gao
    Citation: BMC Medical Genomics 2017 10(Suppl 5):77

    This article is part of a Supplement: Volume 10 Supplement 5

  17. Accurately predicting pathogenic human genes has been challenging in recent research. Considering extensive gene–disease data verified by biological experiments, we can apply computational methods to perform a...

    Authors: Xiangxiang Zeng, Ningxiang Ding, Alfonso Rodríguez-Patón and Quan Zou
    Citation: BMC Medical Genomics 2017 10(Suppl 5):76

    This article is part of a Supplement: Volume 10 Supplement 5

  18. Automatic disease named entity recognition (DNER) is of utmost importance for development of more sophisticated BioNLP tools. However, most conventional CRF based DNER systems rely on well-designed features wh...

    Authors: Zhehuan Zhao, Zhihao Yang, Ling Luo, Lei Wang, Yin Zhang, Hongfei Lin and Jian Wang
    Citation: BMC Medical Genomics 2017 10(Suppl 5):73

    This article is part of a Supplement: Volume 10 Supplement 5

  19. Recent advances in omics technologies have raised great opportunities to study large-scale regulatory networks inside the cell. In addition, single-cell experiments have measured the gene and protein activitie...

    Authors: Jiangyong Wei, Xiaohua Hu, Xiufen Zou and Tianhai Tian
    Citation: BMC Medical Genomics 2017 10(Suppl 5):72

    This article is part of a Supplement: Volume 10 Supplement 5

  20. Similar diseases are always caused by similar molecular origins, such as diasease-related protein-coding genes (PCGs). And the molecular associations reflect their similarity. Therefore, current methods for ca...

    Authors: Yang Hu, Meng Zhou, Hongbo Shi, Hong Ju, Qinghua Jiang and Liang Cheng
    Citation: BMC Medical Genomics 2017 10(Suppl 5):71

    This article is part of a Supplement: Volume 10 Supplement 5

  21. Viral vaccine target discovery requires understanding the diversity of both the virus and the human immune system. The readily available and rapidly growing pool of viral sequence data in the public domain ena...

    Authors: Asif M. Khan, Yongli Hu, Olivo Miotto, Natascha M. Thevasagayam, Rashmi Sukumaran, Hadia Syahirah Abd Raman, Vladimir Brusic, Tin Wee Tan and J. Thomas August
    Citation: BMC Medical Genomics 2017 10(Suppl 4):78

    This article is part of a Supplement: Volume 10 Supplement 4

  22. The Cancer Genome Atlas (TCGA) has collected transcriptome, genome and epigenome information for over 20 cancers from thousands of patients. The availability of these diverse data types makes it necessary to c...

    Authors: Menglan Cai and Limin Li
    Citation: BMC Medical Genomics 2017 10(Suppl 4):75

    This article is part of a Supplement: Volume 10 Supplement 4

  23. Innate immunity provides first line of defense against viral infections. The interactions between hosts and influenza A virus and the response of host innate immunity to viral infection are critical determinan...

    Authors: Yingying Cao, Yaowei Huang, Ke Xu, Yuanhua Liu, Xuan Li, Ye Xu, Wu Zhong and Pei Hao
    Citation: BMC Medical Genomics 2017 10(Suppl 4):70

    This article is part of a Supplement: Volume 10 Supplement 4

  24. Although post-traumatic stress disorder (PTSD) is primarily a mental disorder, it can cause additional symptoms that do not seem to be directly related to the central nervous system, which PTSD is assumed to d...

    Authors: Y.-H. Taguchi
    Citation: BMC Medical Genomics 2017 10(Suppl 4):67

    This article is part of a Supplement: Volume 10 Supplement 4

  25. Malignant tumors are typically caused by a conglomeration of genomic aberrations—including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemothe...

    Authors: Jonathan B. Dayton and Stephen R. Piccolo
    Citation: BMC Medical Genomics 2017 10(Suppl 4):66

    This article is part of a Supplement: Volume 10 Supplement 4

  26. In human genomes, long non-coding RNAs (lncRNAs) have attracted more and more attention because their dysfunctions are involved in many diseases. However, the associations between lncRNAs and diseases (LDA) st...

    Authors: Jian-Yu Shi, Hua Huang, Yan-Ning Zhang, Yu-Xi Long and Siu-Ming Yiu
    Citation: BMC Medical Genomics 2017 10(Suppl 4):65

    This article is part of a Supplement: Volume 10 Supplement 4

  27. The identification of prognostic biomarkers for cancer patients is essential for cancer research. These days, DNA methylation has been proved to be associated with cancer prognosis. However, there are few meth...

    Authors: Wei-Lin Hu and Xiong-Hui Zhou
    Citation: BMC Medical Genomics 2017 10(Suppl 4):63

    This article is part of a Supplement: Volume 10 Supplement 4

  28. Inhibition of the PD-L1/PD-1 immune checkpoint axis represents one of the most promising approaches of immunotherapy for various cancer types. However, immune checkpoint inhibition is successful only in subpop...

    Authors: Jan Budczies, Carsten Denkert, Balázs Győrffy, Peter Schirmacher and Albrecht Stenzinger
    Citation: BMC Medical Genomics 2017 10:74
  29. Unfortunately, the original article [1] contained an error. The additional files were included incorrectly. The correct additional files 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 and 14 are published in this c...

    Authors: Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica JY Lee, Clara van Karnebeek and Wyeth W Wasserman
    Citation: BMC Medical Genomics 2017 10:69

    The original article was published in BMC Medical Genomics 2014 7:64

  30. Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO...

    Authors: Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch and Susanne Walitza
    Citation: BMC Medical Genomics 2017 10:68
  31. MiRNAs are frequently abnormally expressed in the progression of human osteosarcoma. Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is one of the tumor suppressors in various types of human c...

    Authors: Biao Zhong, Shang Guo, Wei Zhang, Chi Zhang, Yukai Wang and Changqing Zhang
    Citation: BMC Medical Genomics 2017 10:64
  32. Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS...

    Authors: Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu and Yongguo Yu
    Citation: BMC Medical Genomics 2017 10:62
  33. Significant clinical and research applications are driving large scale adoption of individualized tumor sequencing in cancer in order to identify tumors-specific mutations. When a matched germline sample is av...

    Authors: Rebecca F. Halperin, John D. Carpten, Zarko Manojlovic, Jessica Aldrich, Jonathan Keats, Sara Byron, Winnie S. Liang, Megan Russell, Daniel Enriquez, Ana Claasen, Irene Cherni, Baffour Awuah, Joseph Oppong, Max S. Wicha, Lisa A. Newman, Evelyn Jaigge…
    Citation: BMC Medical Genomics 2017 10:61
  34. Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty t...

    Authors: Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu and Yueping Zhang
    Citation: BMC Medical Genomics 2017 10:60
  35. Cigarette smoking is the leading modifiable risk factor for disease and death worldwide. Previous studies quantifying gene-level expression have documented the effect of smoking on mRNA levels. Using RNA seque...

    Authors: Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh and Peter J. Castaldi
    Citation: BMC Medical Genomics 2017 10:58

    The Correction to this article has been published in BMC Medical Genomics 2019 12:166

  36. With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmaco...

    Authors: Petr Ponomarenko, Alex Ryutov, Dennis T. Maglinte, Ancha Baranova, Tatiana V. Tatarinova and Xiaowu Gai
    Citation: BMC Medical Genomics 2017 10:57
  37. PD is a progressive neurodegenerative disorder commonly treated by levodopa. The findings from genetic studies on adverse effects (ADRs) and levodopa efficacy are mostly inconclusive. Here, we aim to identify ...

    Authors: Debleena Guin, Manish Kumar Mishra, Puneet Talwar, Chitra Rawat, Suman S. Kushwaha, Shrikant Kukreti and Ritushree Kukreti
    Citation: BMC Medical Genomics 2017 10:56
  38. Inhibition of nonsense-mediated mRNA decay (NMD) in tumor cells can suppress tumor growth through expressing new antigens whose mRNAs otherwise are degraded by NMD. Thus NMD inhibition is a promising approach ...

    Authors: Meng Wang, Peiwei Zhang, Yufei Zhu, Xiangyin Kong, Zhenguo Zhang and Landian Hu
    Citation: BMC Medical Genomics 2017 10:55
  39. Formalin fixed paraffin embedded (FFPE) tumor samples are a major source of DNA from patients in cancer research. However, FFPE is a challenging material to work with due to macromolecular fragmentation and nu...

    Authors: Jackie L. Ludgate, James Wright, Peter A. Stockwell, Ian M. Morison, Michael R. Eccles and Aniruddha Chatterjee
    Citation: BMC Medical Genomics 2017 10:54
  40. Gene-fusion or chimeric transcripts have been implicated in the onset and progression of a variety of cancers. Massively parallel RNA sequencing (RNA-Seq) of the cellular transcriptome is a promising approach ...

    Authors: Vinay K. Mittal and John F. McDonald
    Citation: BMC Medical Genomics 2017 10:53
  41. The implantation of mechanical circulatory support devices in heart failure patients is associated with a systemic inflammatory response, potentially leading to death from multiple organ dysfunction syndrome. ...

    Authors: Nicholas Wisniewski, Galyna Bondar, Christoph Rau, Jay Chittoor, Eleanor Chang, Azadeh Esmaeili, Martin Cadeiras and Mario Deng
    Citation: BMC Medical Genomics 2017 10:52
  42. Preeclampsia is a multifactorial disease with unknown pathogenesis. Even when recent studies explored this disease using several bioinformatics tools, the main objective was not directed to pathogenesis. Addit...

    Authors: Eduardo Tejera, Maykel Cruz-Monteagudo, Germán Burgos, María-Eugenia Sánchez, Aminael Sánchez-Rodríguez, Yunierkis Pérez-Castillo, Fernanda Borges, Maria Natália Dias Soeiro Cordeiro, César Paz-y-Miño and Irene Rebelo
    Citation: BMC Medical Genomics 2017 10:50
  43. Advances in DNA sequencing technologies have prompted a wide range of genomic applications to improve healthcare and facilitate biomedical research. However, privacy and security concerns have emerged as a cha...

    Authors: Feng Chen, Chenghong Wang, Wenrui Dai, Xiaoqian Jiang, Noman Mohammed, Md Momin Al Aziz, Md Nazmus Sadat, Cenk Sahinalp, Kristin Lauter and Shuang Wang
    Citation: BMC Medical Genomics 2017 10(Suppl 2):48

    This article is part of a Supplement: Volume 10 Supplement 2

  44. One of the tasks in the iDASH Secure Genome Analysis Competition in 2016 was to demonstrate the feasibility of privacy-preserving queries on homomorphically encrypted genomic data. More precisely, given a list...

    Authors: Gizem S. Çetin, Hao Chen, Kim Laine, Kristin Lauter, Peter Rindal and Yuhou Xia
    Citation: BMC Medical Genomics 2017 10(Suppl 2):45

    This article is part of a Supplement: Volume 10 Supplement 2

  45. With the enormous need for federated eco-system for holding global genomic and clinical data, Global Alliance for Genomic and Health (GA4GH) has created an international website called beacon service which all...

    Authors: Md Momin Al Aziz, Reza Ghasemi, Md Waliullah and Noman Mohammed
    Citation: BMC Medical Genomics 2017 10(Suppl 2):43

    This article is part of a Supplement: Volume 10 Supplement 2

  46. As genome sequencing technology develops rapidly, there has lately been an increasing need to keep genomic data secure even when stored in the cloud and still used for research. We are interested in designing ...

    Authors: Miran Kim, Yongsoo Song and Jung Hee Cheon
    Citation: BMC Medical Genomics 2017 10(Suppl 2):42

    This article is part of a Supplement: Volume 10 Supplement 2

  47. Edit distance is a well established metric to quantify how dissimilar two strings are by counting the minimum number of operations required to transform one string into the other. It is utilized in the domain ...

    Authors: Md Momin Al Aziz, Dima Alhadidi and Noman Mohammed
    Citation: BMC Medical Genomics 2017 10(Suppl 2):41

    This article is part of a Supplement: Volume 10 Supplement 2

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