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  1. Content type: Research

    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

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

  3. Content type: Research article

    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

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  4. Content type: Research article

    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

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  5. Content type: Research article

    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

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  6. Content type: Research article

    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

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  7. Content type: Research article

    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

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  8. Content type: Research article

    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

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  9. Content type: Research article

    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

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  10. Content type: Research article

    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

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  11. Content type: Research

    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

    Published on:

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

  12. Content type: Research

    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

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

  13. Content type: Research

    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

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

  14. Content type: Research

    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

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

  15. Content type: Research

    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

    Published on:

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

  16. Content type: Research

    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

    Published on:

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

  17. Content type: Research

    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

    Published on:

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

  18. Content type: Research

    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

    Published on:

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

  19. Content type: Research

    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

    Published on:

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

  20. Content type: Research

    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

    Published on:

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

  21. Content type: Research

    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

    Published on:

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

  22. Content type: Research

    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

    Published on:

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

  23. Content type: Research

    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

    Published on:

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

  24. Content type: Research

    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

    Published on:

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

  25. Content type: Research article

    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

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  26. Content type: Correction

    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

    Published on:

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

  27. Content type: Research article

    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

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  28. Content type: Research article

    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

    Published on:

  29. Content type: Research article

    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

    Published on:

  30. Content type: Research article

    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

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  31. Content type: Research article

    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

    Published on:

  33. Content type: Research article

    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

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  34. Content type: Research article

    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

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  36. Content type: Research article

    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

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  37. Content type: Research article

    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

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  38. Content type: Technical advance

    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

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  39. Content type: Research article

    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

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  40. Content type: Research article

    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

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  41. Content type: Research article

    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

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  42. Content type: Research

    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

    Published on:

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

  43. Content type: Research

    Cloud computing is becoming the preferred solution for efficiently dealing with the increasing amount of genomic data. Yet, outsourcing storage and processing sensitive information, such as genomic data, comes...

    Authors: João Sá Sousa, Cédric Lefebvre, Zhicong Huang, Jean Louis Raisaro, Carlos Aguilar-Melchor, Marc-Olivier Killijian and Jean-Pierre Hubaux

    Citation: BMC Medical Genomics 2017 10(Suppl 2):46

    Published on:

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

  44. Content type: Research

    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

    Published on:

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

  45. Content type: Research

    Whole genome sequencing has become fast, accurate, and cheap, paving the way towards the large-scale collection and processing of human genome data. Unfortunately, this dawning genome era does not only promise...

    Authors: Jan Henrik Ziegeldorf, Jan Pennekamp, David Hellmanns, Felix Schwinger, Ike Kunze, Martin Henze, Jens Hiller, Roman Matzutt and Klaus Wehrle

    Citation: BMC Medical Genomics 2017 10(Suppl 2):44

    Published on:

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

  46. Content type: Research

    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

    Published on:

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

  47. Content type: Research

    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

    Published on:

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

  48. Content type: Research

    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

    Published on:

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

  49. Content type: Research

    Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past deca...

    Authors: Zhiyu Wan, Yevgeniy Vorobeychik, Murat Kantarcioglu and Bradley Malin

    Citation: BMC Medical Genomics 2017 10(Suppl 2):39

    Published on:

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

  50. Content type: Case report

    Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that ...

    Authors: Zhan Zhou, Shanshan Wu, Jun Lai, Yuan Shi, Chixiao Qiu, Zhe Chen, Yufeng Wang, Xun Gu, Jie Zhou and Shuqing Chen

    Citation: BMC Medical Genomics 2017 10:49

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