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  1. Privacy protecting is an important issue in medical informatics and differential privacy is a state-of-the-art framework for data privacy research. Differential privacy offers provable privacy against attacker...

    Authors: Zhanglong Ji, Xiaoqian Jiang, Shuang Wang, Li Xiong and Lucila Ohno-Machado
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S14
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  2. Measurement-unit conflicts are a perennial problem in integrative research domains such as clinical meta-analysis. As multi-national collaborations grow, as new measurement instruments appear, and as Linked Op...

    Authors: Soroush Samadian, Bruce McManus and Mark D Wilkinson
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S12
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  3. Human genome sequencing has enabled the association of phenotypes with genetic loci, but our ability to effectively translate this data to the clinic has not kept pace. Over the past 60 years, pharmaceutical c...

    Authors: Mani P Grover, Sara Ballouz, Kaavya A Mohanasundaram, Richard A George, Craig D H Sherman, Tamsyn M Crowley and Merridee A Wouters
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S8
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  4. With the development of high-throughput genotyping and sequencing technology, there are growing evidences of association with genetic variants and complex traits. In spite of thousands of genetic variants disc...

    Authors: Min-Seok Kwon, Mira Park and Taesung Park
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S6
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  5. In cancer prognosis research, diverse machine learning models have applied to the problems of cancer susceptibility (risk assessment), cancer recurrence (redevelopment of cancer after resolution), and cancer s...

    Authors: Hyunjung Shin and Yonghyun Nam
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S4
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  6. The current state of the art for measuring stromal response to targeted therapy requires burdensome and rate limiting quantitative histology. Transcriptome measures are increasingly affordable and provide an o...

    Authors: Xinan Yang, Yong Huang, Younghee Lee, Vincent Gardeux, Ikbel Achour, Kelly Regan, Ellen Rebman, Haiquan Li and Yves A Lussier
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  7. Genome-wide transcriptome profiling generated by microarray and RNA-Seq often provides deregulated genes or pathways applicable only to larger cohort. On the other hand, individualized interpretation of transc...

    Authors: Vincent Gardeux, Ahmet D Arslan, Ikbel Achour, Tsui-Ting Ho, William T Beck and Yves A Lussier
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 1

  8. Genome-wide interrogation of DNA methylation (DNAm) in blood-derived leukocytes has become feasible with the advent of CpG genotyping arrays. In epithelial ovarian cancer (EOC), one report found substantial DN...

    Authors: Brooke L Fridley, Sebastian M Armasu, Mine S Cicek, Melissa C Larson, Chen Wang, Stacey J Winham, Kimberly R Kalli, Devin C Koestler, David N Rider, Viji Shridhar, Janet E Olson, Julie M Cunningham and Ellen L Goode
    Citation: BMC Medical Genomics 2014 7:21
    Content type: Research article Published on:

  9. Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by a growing number of laboratories. As part of the test design process each laboratory must determine the performance ch...

    Authors: Michael D Linderman, Tracy Brandt, Lisa Edelmann, Omar Jabado, Yumi Kasai, Ruth Kornreich, Milind Mahajan, Hardik Shah, Andrew Kasarskis and Eric E Schadt
    Citation: BMC Medical Genomics 2014 7:20
    Content type: Research article Published on:

  10. 2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common...

    Authors: Yasunari Sakai, Ryota Souzaki, Hidetaka Yamamoto, Yuki Matsushita, Hazumu Nagata, Yoshito Ishizaki, Hiroyuki Torisu, Yoshinao Oda, Tomoaki Taguchi, Chad A Shaw and Toshiro Hara
    Citation: BMC Medical Genomics 2014 7:19
    Content type: Case report Published on:

  11. DNA methylation is a crucial epigenetic modification of the genome which is involved in embryonic development, transcription, chromatin structure, X chromosome inactivation, genomic imprinting and chromosome s...

    Authors: Hong-Dan Wang, Qiao-Fang Hou, Qian-Nan Guo, Tao Li, Dong Wu, Xian-Ping Zhang, Yan Chu, Miao He, Hai Xiao, Liang-Jie Guo, Ke Yang, Shi-Xiu Liao and Bo-Feng Zhu
    Citation: BMC Medical Genomics 2014 7:18
    Content type: Research article Published on:

  12. GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hy...

    Authors: Isabel De Castro-Orós, Javier Pérez-López, Rocio Mateo-Gallego, Soraya Rebollar, Marta Ledesma, Montserrat León, Montserrat Cofán, Jose A Casasnovas, Emilio Ros, Jose C Rodríguez-Rey, Fernando Civeira and Miguel Pocoví
    Citation: BMC Medical Genomics 2014 7:17
    Content type: Research article Published on:

  13. The purpose of this manuscript is to describe the PhenX RISING network and the site experiences in the implementation of PhenX measures into ongoing population-based genomic studies.

    Authors: Catherine A McCarty, Wayne Huggins, Allison E Aiello, Robert M Bilder, Ahmad Hariri, Terry L Jernigan, Erik Newman, Dharambir K Sanghera, Timothy J Strauman, Yi Zeng, Erin M Ramos and Heather A Junkins
    Citation: BMC Medical Genomics 2014 7:16
    Content type: Research article Published on:

  14. The transcriptome complexity in an organism can be achieved by alternative splicing of precursor messenger RNAs. It has been revealed that alternations in mRNA splicing play an important role in a number of di...

    Authors: Qu Zhang, Hua Li, Hong Jin, Huibiao Tan, Jun Zhang and Sitong Sheng
    Citation: BMC Medical Genomics 2014 7:15
    Content type: Research article Published on:

  15. Immediately after renal transplantation, patients experience rapid and significant improvement of their clinical conditions and undergo considerable systemic and cellular modifications. However, some patients ...

    Authors: Gianluigi Zaza, Federica Rascio, Paola Pontrelli, Simona Granata, Patrizia Stifanelli, Matteo Accetturo, Nicola Ancona, Loreto Gesualdo, Antonio Lupo and Giuseppe Grandaliano
    Citation: BMC Medical Genomics 2014 7:14
    Content type: Research article Published on:

  16. Childhood abuse is associated with increased adult disease risk, suggesting that processes acting over the long-term, such as epigenetic regulation of gene activity, may be involved. DNA methylation is a criti...

    Authors: Matthew Suderman, Nada Borghol, Jane J Pappas, Snehal M Pinto Pereira, Marcus Pembrey, Clyde Hertzman, Chris Power and Moshe Szyf
    Citation: BMC Medical Genomics 2014 7:13
    Content type: Research article Published on:

  17. Variable responses to the Hepatitis B Virus (HBV) vaccine have recently been reported as strongly dependent on genetic causes. Yet, the details on such mechanisms of action are still unknown. In parallel, alte...

    Authors: Youtao Lu, Yi Cheng, Weili Yan and Christine Nardini
    Citation: BMC Medical Genomics 2014 7:12
    Content type: Research article Published on:

  18. Cancer genomes harbor hundreds to thousands of somatic nonsynonymous mutations. DNA damage and deficiency of DNA repair systems are two major forces to cause somatic mutations, marking cancer genomes with spec...

    Authors: Peilin Jia, William Pao and Zhongming Zhao
    Citation: BMC Medical Genomics 2014 7:11
    Content type: Research article Published on:

  19. Uric acid (UA) is a complex phenotype influenced by both genetic and environmental factors as well as their interactions. Current genome-wide association studies (GWASs) have identified a variety of genetic de...

    Authors: Binyao Yang, Zengnan Mo, Chen Wu, Handong Yang, Xiaobo Yang, Yunfeng He, Lixuan Gui, Li Zhou, Huan Guo, Xiaomin Zhang, Jing Yuan, Xiayun Dai, Jun Li, Gaokun Qiu, Suli Huang, Qifei Deng…
    Citation: BMC Medical Genomics 2014 7:10
    Content type: Research article Published on:

  20. The editors of BMC Medical Genomics would like to thank all our reviewers who have contributed to the journal in Volume 6 (2013).

    Authors: Timothy R Sands
    Citation: BMC Medical Genomics 2014 7:6
    Content type: Reviewer acknowledgement Published on:

  21. In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has bee...

    Authors: Martin J Larsen, Mads Thomassen, Qihua Tan, Anne-Vibeke Lænkholm, Martin Bak, Kristina P Sørensen, Mette Klarskov Andersen, Torben A Kruse and Anne-Marie Gerdes
    Citation: BMC Medical Genomics 2014 7:9
    Content type: Research article Published on:

  22. Both genetic and epigenetic factors influence the development and progression of epithelial ovarian cancer (EOC). However, there is an incomplete understanding of the interrelationship between these factors an...

    Authors: Devin C Koestler, Prabhakar Chalise, Mine S Cicek, Julie M Cunningham, Sebastian Armasu, Melissa C Larson, Jeremy Chien, Matthew Block, Kimberly R Kalli, Thomas A Sellers, Brooke L Fridley and Ellen L Goode
    Citation: BMC Medical Genomics 2014 7:8
    Content type: Research article Published on:

  23. Research on Genomic medicine has suggested that the exposure of patients to early life risk factors may induce the development of chronic diseases in adulthood, as the presence of premature risk factors can in...

    Authors: Juliana Tarossi Pollettini, José Augusto Baranauskas, Evandro Seron Ruiz, Maria da Graça Pimentel and Alessandra Alaniz Macedo
    Citation: BMC Medical Genomics 2014 7:7
    Content type: Research article Published on:

  24. The catechol-O-methyltransferase (COMT) enzyme has been widely studied due to its multiple roles in neurological functioning, estrogen biology, and methylation metabolic pathways. Numerous studies have investigat...

    Authors: Theresa Swift-Scanlan, Christopher T Smith, Sabrina A Bardowell and Charlotte A Boettiger
    Citation: BMC Medical Genomics 2014 7:5
    Content type: Research article Published on:

  25. High-grade osteosarcoma is a primary malignant bone tumor mostly occurring in adolescents and young adults, with a second peak at middle age. Overall survival is approximately 60%, and has not significantly in...

    Authors: Marieke L Kuijjer, Brendy EWM van den Akker, Riet Hilhorst, Monique Mommersteeg, Emilie P Buddingh, Massimo Serra, Horst Bürger, Pancras CW Hogendoorn and Anne-Marie Cleton-Jansen
    Citation: BMC Medical Genomics 2014 7:4
    Content type: Research article Published on:

  26. The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort.

    Authors: Catherine A McCarty, Richard Berg, Carla M Rottscheit, Carol J Waudby, Terrie Kitchner, Murray Brilliant and Marylyn D Ritchie
    Citation: BMC Medical Genomics 2014 7:3
    Content type: Research article Published on:

  27. To gain biological insights into lung metastases from hepatocellular carcinoma (HCC), we compared the whole-genome sequencing profiles of primary HCC and paired lung metastases.

    Authors: Limei Ouyang, Jeeyun Lee, Cheol-Keun Park, Mao Mao, Yujian Shi, Zhuolin Gong, Hancheng Zheng, Yingrui Li, Yonggang Zhao, Guangbiao Wang, Huiling Fu, Jhingook Kim and Ho Yeong Lim
    Citation: BMC Medical Genomics 2014 7:2
    Content type: Research article Published on:

  28. Non-invasive prenatal testing of trisomy 21 (T21) is being actively investigated using fetal-specific epigenetic markers (EPs) that are present in maternal plasma. Recently, 12 EPs on chromosome 21 were identi...

    Authors: Ji Hyae Lim, Da Eun Lee, So Yeon Park, Do Jin Kim, Hyun Kyong Ahn, You Jung Han, Moon Young Kim and Hyun Mee Ryu
    Citation: BMC Medical Genomics 2014 7:1
    Content type: Research article Published on:

  29. The presence of an extra whole or part of chromosome 21 in people with Down syndrome (DS) is associated with multiple neurological changes, including pathological aging that often meets the criteria for Alzhei...

    Authors: Meaghan J Jones, Pau Farré, Lisa M McEwen, Julia L MacIsaac, Kim Watt, Sarah M Neumann, Eldon Emberly, Max S Cynader, Naznin Virji-Babul and Michael S Kobor
    Citation: BMC Medical Genomics 2013 6:58
    Content type: Research article Published on:

  30. Authors: Mengjun Wang, Anand Mehta, Timothy M Block, Jorge Marrero, Adrian M Di Bisceglie and Karthik Devarajan
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S11
    Content type: Erratum Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

    The original article was published in BMC Medical Genomics 2013 6:S9

  31. The identification of genes involved in human complex diseases remains a great challenge in computational systems biology. Although methods have been developed to use disease phenotypic similarities with a pro...

    Authors: Yong Chen, Xuebing Wu and Rui Jiang
    Citation: BMC Medical Genomics 2013 6:57
    Content type: Research article Published on:

  32. To investigate associations between WW domain-containing oxidoreductase (WWOX), runt-related transcription factor 2 (RUNX2) and vascular endothelial growth factor alpha (VEGFA) in human osteosarcoma (OS).

    Authors: Jilong Yang, Linru Zhao, Wei Tian, Zhichao Liao, Hong Zheng, Guowen Wang and Kexin Chen
    Citation: BMC Medical Genomics 2013 6:56
    Content type: Research article Published on:

  33. Structure and function of the human brain are subjected to dramatic changes during its development and aging. Studies have demonstrated that microRNAs (miRNAs) play an important role in the regulation of brain...

    Authors: Weiguo Li, Lina Chen, Wan Li, Xiaoli Qu, Weiming He, Yuehan He, Chenchen Feng, Xu Jia, Yanyan Zhou, Junjie Lv, Binhua Liang, Binbin Chen and Jing Jiang
    Citation: BMC Medical Genomics 2013 6:55
    Content type: Research article Published on:

  34. Colorectal cancer is the third leading cause of cancer deaths in the United States. The initial assessment of colorectal cancer involves clinical staging that takes into account the extent of primary tumor inv...

    Authors: HoJoon Lee, Patrick Flaherty and Hanlee P Ji
    Citation: BMC Medical Genomics 2013 6:54
    Content type: Research article Published on:

  35. Non-small cell lung cancer (NSCLC), a leading cause of cancer deaths, represents a heterogeneous group of neoplasms, mostly comprising squamous cell carcinoma (SCC), adenocarcinoma (AC) and large-cell carcinom...

    Authors: Vladimir Lazar, Chen Suo, Cedric Orear, Joost van den Oord, Zsofia Balogh, Justine Guegan, Bastien Job, Guillaume Meurice, Hugues Ripoche, Stefano Calza, Johanna Hasmats, Joakim Lundeberg, Ludovic Lacroix, Philippe Vielh, Fabienne Dufour, Janne Lehtiö…
    Citation: BMC Medical Genomics 2013 6:53
    Content type: Research article Published on:

  36. Neurodegenerative diseases (NDs) are characterized by the progressive loss of neurons in the human brain. Although the majority of NDs are sporadic, evidence is accumulating that they have a strong genetic com...

    Authors: Dokyun Na, Mushfiqur Rouf, Cahir J O’Kane, David C Rubinsztein and Jörg Gsponer
    Citation: BMC Medical Genomics 2013 6:52
    Content type: Database Published on:

  38. With digitisation and the development of computer-aided diagnosis, histopathological image analysis has attracted considerable interest in recent years. In this article, we address the problem of the automated...

    Authors: Gang Zhang, Jian Yin, Ziping Li, Xiangyang Su, Guozheng Li and Honglai Zhang
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S10
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  39. Currently, a surgical approach is the best curative treatment for those with hepatocellular carcinoma (HCC). However, this requires HCC detection and removal of the lesion at an early stage. Unfortunately, mos...

    Authors: Mengjun Wang, Anand Mehta, Timothy M Block, Jorge Marrero, Adrian M Di Bisceglie and Karthik Devarajan
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S9
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

    The Erratum to this article has been published in BMC Medical Genomics 2013 6:S11

  40. Images embedded in biomedical publications carry rich information that often concisely summarize key hypotheses adopted, methods employed, or results obtained in a published study. Therefore, they offer valuab...

    Authors: Jianqiang Sheng, Songhua Xu and Xiaonan Luo
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S8
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  41. Acute inflammation is a severe medical condition defined as an inflammatory response of the body to an infection. Its rapid progression requires quick and accurate decisions from clinicians. Inadequate and del...

    Authors: Vladan Radosavljevic, Kosta Ristovski and Zoran Obradovic
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S7
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  42. Insulin secreted by pancreatic islet β-cells is the principal regulating hormone of glucose metabolism and plays a key role in controlling glucose level in blood. Impairment of the pancreatic islet function may c...

    Authors: Yang Pu, Saangho Lee, David C Samuels, Layne T Watson and Yang Cao
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S6
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  43. Phylogenetic analyses can resolve historical relationships among genes, organisms or higher taxa. Understanding such relationships can elucidate a wide range of biological phenomena, including, for example, th...

    Authors: Maryam Panahiazar, Amit P Sheth, Ajith Ranabahu, Rutger A Vos and Jim Leebens-Mack
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S5
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  44. During the last few years, the knowledge of drug, disease phenotype and protein has been rapidly accumulated and more and more scientists have been drawn the attention to inferring drug-disease associations by...

    Authors: Yu-Fen Huang, Hsiang-Yuan Yeh and Von-Wun Soo
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S4
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  45. The aim of this report is to provide a mathematical model of the mechanism for making binary fate decisions about cell death or survival, during and after Photodynamic Therapy (PDT) treatment, and to supply th...

    Authors: Ioannis Gkigkitzis
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S3
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  46. In recent years, both single-nucleotide polymorphism (SNP) array and functional magnetic resonance imaging (fMRI) have been widely used for the study of schizophrenia (SCZ). In addition, a few studies have bee...

    Authors: Hongbao Cao, Junbo Duan, Dongdong Lin, Vince Calhoun and Yu-Ping Wang
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  47. The problem of efficient utilization of genome-wide expression profiles for identification and prediction of complex disease conditions is both important and challenging. Polygenic pathologies such as most typ...

    Authors: Nikolay Balov
    Citation: BMC Medical Genomics 2013 6(Suppl 3):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 6 Supplement 3

  48. Steatohepatitis occurs in alcoholic liver disease and may progress to liver cirrhosis and hepatocellular carcinoma. Its molecular pathogenesis is to a large degree unknown. Histone modifications play a key rol...

    Authors: Madhusudhan Bysani, Ola Wallerman, Susanne Bornelöv, Kurt Zatloukal, Jan Komorowski and Claes Wadelius
    Citation: BMC Medical Genomics 2013 6:50
    Content type: Research article Published on:

  49. Myocardial infarction (MI) often results in left ventricular (LV) remodeling followed by heart failure (HF). It is of great clinical importance to understand the molecular mechanisms that trigger transition fr...

    Authors: Dorota Tulacz, Urszula Mackiewicz, Michal Maczewski, Agata Maciejak, Monika Gora and Beata Burzynska
    Citation: BMC Medical Genomics 2013 6:49
    Content type: Research article Published on:

  50. Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approa...

    Authors: Tú Nguyen-Dumont, Zhi L Teo, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Nelly Sabbaghian, Marc Tischkowitz, William D Foulkes, Graham G Giles, John L Hopper, Melissa C Southey and Daniel J Park
    Citation: BMC Medical Genomics 2013 6:48
    Content type: Research article Published on:
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