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  1. Integrating multiple data sources is indispensable in improving disease gene identification. It is not only due to the fact that disease genes associated with similar genetic diseases tend to lie close with ea...

    Authors: Bolin Chen, Min Li, Jianxin Wang, Xuequn Shang and Fang-Xiang Wu
    Citation: BMC Medical Genomics 2015 8(Suppl 3):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 3

  2. Metastatic neuroblastoma (NB) occurs in pediatric patients as stage 4S or stage 4 and it is characterized by heterogeneous clinical behavior associated with diverse genotypes. Tumors of stage 4 contain several...

    Authors: Salvatore Masecchia, Simona Coco, Annalisa Barla, Alessandro Verri and Gian Paolo Tonini
    Citation: BMC Medical Genomics 2015 8:57
    Content type: Research article Published on:

  3. Bisphenol A (BPA) is an environmental compounds is known to possess endocrine disruption potentials. Bisphenol A has epigenetic effects as deregulated expression of microRNAs; such epigenetic marks can induce ...

    Authors: Bruna De Felice, Francesco Manfellotto, Annarita Palumbo, Jacopo Troisi, Fulvio Zullo, Costantino Di Carlo, Attilio Di Spiezio Sardo, Noè De Stefano, Umberto Ferbo, Marco Guida and Maurizio Guida
    Citation: BMC Medical Genomics 2015 8:56
    Content type: Research article Published on:

  4. The transcriptional complexity of mammalian cells suggests that they have broad abilities to respond to specific environmental stimuli and physiologic contexts. These abilities were not apparent a priori from ...

    Authors: Kaiyu Jiang, Xiaoyun Sun, Yanmin Chen, Yufeng Shen and James N. Jarvis
    Citation: BMC Medical Genomics 2015 8:55
    Content type: Research article Published on:

  5. The four intrinsic subtypes of breast cancer, defined by differential expression of 50 genes (PAM50), have been shown to be predictive of risk of recurrence and benefit of hormonal therapy and chemotherapy. He...

    Authors: Brett Wallden, James Storhoff, Torsten Nielsen, Naeem Dowidar, Carl Schaper, Sean Ferree, Shuzhen Liu, Samuel Leung, Gary Geiss, Jacqueline Snider, Tammi Vickery, Sherri R. Davies, Elaine R. Mardis, Michael Gnant, Ivana Sestak, Matthew J. Ellis…
    Citation: BMC Medical Genomics 2015 8:54
    Content type: Research article Published on:

  7. p53 is a tumor suppressor that contributes to the host immune response against viral infections in addition to its well-established protective role against cancer development. In response to influenza A virus ...

    Authors: Wenjun Yan, Jianchao Wei, Xufang Deng, Zixue Shi, Zixiang Zhu, Donghua Shao, Beibei Li, Shaohui Wang, Guangzhi Tong and Zhiyong Ma
    Citation: BMC Medical Genomics 2015 8:52
    Content type: Research article Published on:

  8. The relationships between infections in early life and asthma are not completely understood. Likewise, the clinical relevance of microbial communities present in the respiratory tract is only partially known. ...

    Authors: Eduardo Castro-Nallar, Ying Shen, Robert J. Freishtat, Marcos Pérez-Losada, Solaiappan Manimaran, Gang Liu, W. Evan Johnson and Keith A. Crandall
    Citation: BMC Medical Genomics 2015 8:50
    Content type: Research article Published on:

  9. Whether disclosure of a genetic risk score (GRS) for a common disease influences relevant clinical outcomes is unknown. We describe design of the Myocardial Infarction Genes (MI-GENES) Study, a randomized clin...

    Authors: Iftikhar J. Kullo, Hayan Jouni, Janet E. Olson, Victor M. Montori and Kent R. Bailey
    Citation: BMC Medical Genomics 2015 8:51
    Content type: Study protocol Published on:

  10. Metastasis is the major cause of cancer-related death. Forkhead Box M1 (FoxM1) is a master regulator of tumor metastasis. This study aims to identify new FoxM1 targets in regulating tumor metastasis using bioi...

    Authors: Yun Zheng, Jinjun Guo, Jin Zhou, Jinjian Lu, Qi Chen, Cui Zhang, Chen Qing, H. Philip Koeffler and Yunguang Tong
    Citation: BMC Medical Genomics 2015 8:49
    Content type: Research article Published on:

  11. The genetic basis of hearing loss in humans is relatively poorly understood. In recent years, experimental approaches including laboratory studies of early onset hearing loss in inbred mouse strains, or proteo...

    Authors: Sean Harrison, Sarah J. Lewis, Amanda J. Hall, Dragana Vuckovic, Giorgia Girotto, Richard M. Martin and Josephine C. Adams
    Citation: BMC Medical Genomics 2015 8:48
    Content type: Research article Published on:

  12. The growing gap between the demand for genome sequencing and the supply of trained genomics professionals is creating an acute need to develop more effective genomics education. In response we developed “Pract...

    Authors: Michael D. Linderman, Ali Bashir, George A. Diaz, Andrew Kasarskis, Saskia C. Sanderson, Randi E. Zinberg, Milind Mahajan, Hardik Shah, Sabrina Suckiel, Micol Zweig and Eric E. Schadt
    Citation: BMC Medical Genomics 2015 8:47
    Content type: Correspondence Published on:

  13. With the surge of translational medicine and computational omics research, complex disease diagnosis is more and more relying on massive omics data-driven molecular signature detection. However, how to detect ...

    Authors: Henry Han
    Citation: BMC Medical Genomics 2015 8:46
    Content type: Research Article Published on:

  14. Loss of heterozygosity (LOH) is a common genetic event in cancer development, and is known to be involved in the somatic loss of wild-type alleles in many inherited cancer syndromes. The wider involvement of L...

    Authors: Georgina L. Ryland, Maria A. Doyle, David Goode, Samantha E. Boyle, David Y.H. Choong, Simone M. Rowley, Jason Li, David DL Bowtell, Richard W. Tothill, Ian G. Campbell and Kylie L. Gorringe
    Citation: BMC Medical Genomics 2015 8:45
    Content type: Research article Published on:

  16. Genetic variation can alter transcriptional regulatory activity contributing to variation in complex traits and risk of disease, but identifying individual variants that affect regulatory activity has been cha...

    Authors: Martin L. Buchkovich, Karl Eklund, Qing Duan, Yun Li, Karen L. Mohlke and Terrence S. Furey
    Citation: BMC Medical Genomics 2015 8:43
    Content type: Technical advance Published on:

  17. The presence of loss-of-heterozygosity (LOH) mutations in cancer cell genomes is commonly encountered. Moreover, the occurrences of LOHs in tumor suppressor genes play important roles in oncogenesis. However, ...

    Authors: Yogesh Kumar, Jianfeng Yang, Taobo Hu, Lei Chen, Zhi Xu, Lin Xu, Xiao-Xia Hu, Gusheng Tang, Jian-Min Wang, Yi Li, Wai-Sang Poon, Weiqing Wan, Liwei Zhang, Wai-Kin Mat, Frank W. Pun, Peggy Lee…
    Citation: BMC Medical Genomics 2015 8:42
    Content type: Research article Published on:

  18. Adipose tissue-derived stromal stem cells (ASCs) represent a promising regenerative resource for soft tissue reconstruction. Although autologous grafting of whole fat has long been practiced, a major clinical ...

    Authors: Latha Satish, J. Michael Krill-Burger, Phillip H. Gallo, Shelley Des Etages, Fang Liu, Brian J. Philips, Sudheer Ravuri, Kacey G. Marra, William A. LaFramboise, Sandeep Kathju and J. Peter Rubin
    Citation: BMC Medical Genomics 2015 8:41
    Content type: Research article Published on:

  20. Oral squamous cell carcinoma (OSCC) is associated with substantial mortality and morbidity but, OSCC can be difficult to detect at its earliest stage due to its molecular complexity and clinical behavior. Ther...

    Authors: Vinay Randhawa and Vishal Acharya
    Citation: BMC Medical Genomics 2015 8:39
    Content type: Research article Published on:

  23. Gulf War Illness (GWI) is a complex multi-symptom disorder that affects up to one in three veterans of this 1991 conflict and for which no effective treatment has been found. Discovering novel treatment strate...

    Authors: Travis J.A. Craddock, Jeanna M. Harvey, Lubov Nathanson, Zachary M. Barnes, Nancy G. Klimas, Mary Ann Fletcher and Gordon Broderick
    Citation: BMC Medical Genomics 2015 8:36
    Content type: Research article Published on:

  24. Small ncRNAs (sncRNAs) offer great hope as biomarkers of disease and response to treatment. This has been highlighted in the context of several medical conditions such as cancer, liver disease, cardiovascular ...

    Authors: Juan Pablo Lopez, Alpha Diallo, Cristiana Cruceanu, Laura M. Fiori, Sylvie Laboissiere, Isabelle Guillet, Joelle Fontaine, Jiannis Ragoussis, Vladimir Benes, Gustavo Turecki and Carl Ernst
    Citation: BMC Medical Genomics 2015 8:35
    Content type: Technical advance Published on:

  25. microRNAs (miRs) are small non-coding RNAs involved in the fine regulation of several cellular processes by inhibiting their target genes at post-transcriptional level. Osteosarcoma (OS) is a tumor thought to ...

    Authors: A. Grilli, M. Sciandra, M. Terracciano, P. Picci and K. Scotlandi
    Citation: BMC Medical Genomics 2015 8:34
    Content type: Research article Published on:

  27. Pediatric embryonal brain tumors (PEBTs), which encompass medulloblastoma (MB), primitive neuroectodermal tumor (PNET) and atypical teratoid/rhabdoid tumor (AT/RT), are the second most prevalent pediatric brai...

    Authors: Donald Ming-Tak Ho, Chuan-Chi Shih, Muh-Lii Liang, Chan-Yen Tsai, Tsung-Han Hsieh, Chin-Han Tsai, Shih-Chieh Lin, Ting-Yu Chang, Meng-En Chao, Hsei-Wei Wang and Tai-Tong Wong
    Citation: BMC Medical Genomics 2015 8:32
    Content type: Research article Published on:

  28. Small non-coding regulatory RNAs control cellular functions at the transcriptional and post-transcriptional levels. Oral squamous cell carcinoma is among the leading cancers in the world and the presence of ce...

    Authors: Patricia Severino, Liliane Santana Oliveira, Flávia Maziero Andreghetto, Natalia Torres, Otávio Curioni, Patricia Maluf Cury, Tatiana Natasha Toporcov, Alexandre Rossi Paschoal and Alan Mitchell Durham
    Citation: BMC Medical Genomics 2015 8:31
    Content type: Research article Published on:

  29. Recent advances in next-generation sequencing (NGS) have provided new methods for preimplantation genetic screening (PGS) of human embryos from in vitro fertilization (IVF) cycles. However, there is still limi...

    Authors: Zhihong Yang, James Lin, John Zhang, Wai Ieng Fong, Pei Li, Rong Zhao, Xiaohong Liu, William Podevin, Yanping Kuang and Jiaen Liu
    Citation: BMC Medical Genomics 2015 8:30
    Content type: Research article Published on:

  30. High-throughput sequencing of cell-free DNA fragments found in human plasma has been used to non-invasively detect fetal aneuploidy, monitor organ transplants and investigate tumor DNA. However, many biologica...

    Authors: Dineika Chandrananda, Natalie P. Thorne and Melanie Bahlo
    Citation: BMC Medical Genomics 2015 8:29
    Content type: Research article Published on:

  31. Epigenome-wide studies in hepatocellular carcinoma (HCC) have identified numerous genes with aberrant DNA methylation. However, methods for triaging functional candidate genes as useful biomarkers for epidemio...

    Authors: Jing Shen, Clare LeFave, Iryna Sirosh, Abby B. Siegel, Benjamin Tycko and Regina M. Santella
    Citation: BMC Medical Genomics 2015 8:28
    Content type: Research article Published on:

  32. Preterm birth (PTB), or birth before 37 weeks of gestation, is the leading cause of newborn death worldwide. PTB is a critical area of scientific study not only due to its worldwide toll on human lives and eco...

    Authors: Haley R. Eidem, William E. Ackerman IV, Kriston L. McGary, Patrick Abbot and Antonis Rokas
    Citation: BMC Medical Genomics 2015 8:27
    Content type: Research article Published on:

  33. Faced with an increasing number of choices for biologic therapies, rheumatologists have a critical need for better tools to inform rheumatoid arthritis (RA) disease management. The ability to identify patients...

    Authors: Ty M. Thomson, Reynald M. Lescarbeau, David A. Drubin, Daphna Laifenfeld, David de Graaf, David A. Fryburg, Bruce Littman, Renée Deehan and Aaron Van Hooser
    Citation: BMC Medical Genomics 2015 8:26
    Content type: Research article Published on:

  34. Enumeration of chemical compounds greatly assists designing and finding new drugs, and determining chemical structures from mass spectrometry. In our previous study, we developed efficient algorithms, BfsSimEnum ...

    Authors: Morihiro Hayashida, Jira Jindalertudomdee, Yang Zhao and Tatsuya Akutsu
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S15
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  35. RNA-Seq is a powerful new technology to comprehensively analyze the transcriptome of any given cells. An important task in RNA-Seq data analysis is quantifying the expression levels of all transcripts. Althoug...

    Authors: Yuchao Xia, Fugui Wang, Minping Qian, Zhaohui Qin and Minghua Deng
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S14
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  36. DNA sequencing technology has been rapidly evolving, and produces a large number of short reads with a fast rising tendency. This has led to a resurgence of research in whole genome shotgun assembly algorithms...

    Authors: Chunyu Wang, Maozu Guo, Xiaoyan Liu, Yang Liu and Quan Zou
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S13
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  37. Uncovering the hidden organizational characteristics and regularities among biological sequences is the key issue for detailed understanding of an underlying biological phenomenon. Thus pattern recognition fro...

    Authors: Tushar Sandhan, Youngjun Yoo, Jin Young Choi and Sun Kim
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S12
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  38. Identifying effective biomarkers to battle complex diseases is an important but challenging task in biomedical research today. Molecular data of complex diseases is increasingly abundant due to the rapid advan...

    Authors: Jingxue Xin, Xianwen Ren, Luonan Chen and Yong Wang
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S11
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  39. RNA-sequencing is widely used to measure gene expression level at the whole genome level. Comparing expression data from control and case studies provides good insight on potential gene markers for phenotypes....

    Authors: Benjamin Hur, Heejoon Chae and Sun Kim
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S10
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  41. The post-transcriptional sequence modification of transcripts through RNA editing is an important mechanism for regulating protein function and is associated with human disease phenotypes. The identification o...

    Authors: Soo Youn Lee, Je-Gun Joung, Chan Hee Park, Ji Hye Park and Ju Han Kim
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S8
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  42. Post-translational modification (PTM) plays a crucial role in biological functions and corresponding disease developments. Discovering disease-associated non-synonymous SNPs (nsSNPs) altering PTM sites can hel...

    Authors: Yul Kim, Chiyong Kang, Bumki Min and Gwan-Su Yi
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S7
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  43. Therapy-related, secondary acute myeloid leukemia (t-AML) is an increasingly frequent complication of intensive chemotherapy. This malignancy is often characterized by abnormalities of chromosome 7, including ...

    Authors: Xinan (Holly) Yang, Bin Wang and John M Cunningham
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S6
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  44. Cancer cell lines are used extensively to study cancer biology and to test hypotheses in translational research. The relevance of cell lines is dependent on how closely they resemble the tumors being studied. ...

    Authors: Bin Chen, Marina Sirota, Hua Fan-Minogue, Dexter Hadley and Atul J Butte
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S5
    Content type: Research article Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  45. The rapid advances in genome sequencing technologies have resulted in an unprecedented number of genome variations being discovered in humans. However, there has been very limited coverage of interpretation of...

    Authors: Young-Ji Na, Kyung-Ah Sohn and Ju Han Kim
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S4
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  46. In oncology drug development, it is important to develop low risk drugs efficiently. Meanwhile, computational methods have been paid more and more attention in drug discovery. However, few studies attempt to d...

    Authors: Lida Zhu and Fuxi Zhu
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S3
    Content type: Research article Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  47. Inferring drug-disease associations is critical in unveiling disease mechanisms, as well as discovering novel functions of available drugs, or drug repositioning. Previous work is primarily based on drug-gene-...

    Authors: Liang Yu, Jianbin Huang, Zhixin Ma, Jing Zhang, Yapeng Zou and Lin Gao
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  48. Coronary artery disease (CAD), one of the leading causes of death globally, is influenced by both environmental and genetic risk factors. Gene-centric genome-wide association studies (GWAS) involving cases and...

    Authors: Mani P Grover, Sara Ballouz, Kaavya A Mohanasundaram, Richard A George, Andrzej Goscinski, Tamsyn M Crowley, Craig D H Sherman and Merridee A Wouters
    Citation: BMC Medical Genomics 2015 8(Suppl 2):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 2

  50. Molecular stratification of bladder cancer has revealed gene signatures differentially expressed across tumor subtypes. While these signatures provide important insights into subtype biology, the transcription...

    Authors: Pontus Eriksson, Mattias Aine, Srinivas Veerla, Fredrik Liedberg, Gottfrid Sjödahl and Mattias Höglund
    Citation: BMC Medical Genomics 2015 8:25
    Content type: Research article Published on:
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