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  2. Now multiple types of data are available for identifying disease genes. Those data include gene-disease associations, disease phenotype similarities, protein-protein interactions, pathways, gene expression pro...

    Authors: Bolin Chen, Jianxin Wang, Min Li and Fang-Xiang Wu
    Citation: BMC Medical Genomics 2014 7(Suppl 2):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  3. We have identified candidate protein and microRNA (miRNA) biomarkers for dyspnea by studying serum, lavage fluid, and urine from military personnel who reported serious respiratory symptoms after they were dep...

    Authors: Joseph N Brown, Heather M Brewer, Carrie D Nicora, Karl K Weitz, Michael J Morris, Andrew J Skabelund, Joshua N Adkins, Richard D Smith, Ji-Hoon Cho and Richard Gelinas
    Citation: BMC Medical Genomics 2014 7:58
    Content type: Research article Published on:

  4. Obesity is a complex metabolic condition in strong association with various diseases, like type 2 diabetes, resulting in major public health and economic implications. Obesity is the result of environmental an...

    Authors: Lisette J A Kogelman, Susanna Cirera, Daria V Zhernakova, Merete Fredholm, Lude Franke and Haja N Kadarmideen
    Citation: BMC Medical Genomics 2014 7:57
    Content type: Research article Published on:

  5. Bicuspid aortic valve (BAV) is the most common type of congenital heart disease with a population prevalence of 1-2%. While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1

    Authors: Elizabeth M Bonachea, Gloria Zender, Peter White, Don Corsmeier, David Newsom, Sara Fitzgerald-Butt, Vidu Garg and Kim L McBride
    Citation: BMC Medical Genomics 2014 7:56
    Content type: Research article Published on:

  6. Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter m...

    Authors: Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman and Verónica F Morán-Barroso
    Citation: BMC Medical Genomics 2014 7:55
    Content type: Case report Published on:

  7. Prediction models for old-age mortality have generally relied upon conventional markers such as plasma-based factors and biophysiological characteristics. However, it is unknown whether the existing markers ar...

    Authors: Juulia Jylhävä, Jani Raitanen, Saara Marttila, Antti Hervonen, Marja Jylhä and Mikko Hurme
    Citation: BMC Medical Genomics 2014 7:54
    Content type: Research article Published on:

  8. MiRNA expression profiling is being actively investigated as a clinical biomarker and diagnostic tool to detect multiple cancer types and stages as well as other complex diseases. Initial investigations, howev...

    Authors: Renata A Rawlings-Goss, Michael C Campbell and Sarah A Tishkoff
    Citation: BMC Medical Genomics 2014 7:53
    Content type: Research article Published on:

  9. Human prion diseases are caused by abnormal accumulation of misfolded prion protein in the brain tissue. Inherited prion diseases, including familial Creutzfeldt-Jakob disease (fCJD), are associated with mutat...

    Authors: Sol Moe Lee, Myungguen Chung, Kyu Jam Hwang, Young Ran Ju, Jae Wook Hyeon, Jun-Sun Park, Chi-Kyeong Kim, Sangho Choi, Jeongmin Lee and Su Yeon Kim
    Citation: BMC Medical Genomics 2014 7:52
    Content type: Research article Published on:

  11. Good prognostic tools for predicting disease progression in early stage prostate cancer (PCa) are still missing. Detection of molecular subtypes, for instance by using microarray gene technology, can give new ...

    Authors: Morten Beck Rye, Helena Bertilsson, Finn Drabløs, Anders Angelsen, Tone F Bathen and May-Britt Tessem
    Citation: BMC Medical Genomics 2014 7:50
    Content type: Research article Published on:

  12. Cytokine-induced killer (CIK) cells are an emerging approach of cancer treatment. Our previous study have shown that CIK cells stimulated with combination of IL-2 and IL-15 displayed improved proliferation cap...

    Authors: Wenju Wang, Mingyao Meng, Yayong Zhang, Chuanyu Wei, Yanhua Xie, Lihong Jiang, Chunhui Wang, Fang Yang, Weiwei Tang, Xingfang Jin, Dai Chen, Jie Zong, Zongliu Hou and Ruhong Li
    Citation: BMC Medical Genomics 2014 7:49
    Content type: Research article Published on:

  13. Allergic rhinitis is a common disease whose genetic basis is incompletely explained. We report an integrated genomic analysis of allergic rhinitis.

    Authors: Supinda Bunyavanich, Eric E Schadt, Blanca E Himes, Jessica Lasky-Su, Weiliang Qiu, Ross Lazarus, John P Ziniti, Ariella Cohain, Michael Linderman, Dara G Torgerson, Celeste S Eng, Maria Pino-Yanes, Badri Padhukasahasram, James J Yang, Rasika A Mathias, Terri H Beaty…
    Citation: BMC Medical Genomics 2014 7:48
    Content type: Research article Published on:

  15. Acute respiratory distress syndrome (ARDS) is characterized by pulmonary epithelial injury and extensive inflammation of the pulmonary parenchyma. Systematic analyses of microRNA (miRNA) and mRNA expression pr...

    Authors: Chaoqun Huang, Xiao Xiao, Narendranath Reddy Chintagari, Melanie Breshears, Yang Wang and Lin Liu
    Citation: BMC Medical Genomics 2014 7:46
    Content type: Research article Published on:

  16. The molecular characteristics of human diseases are often represented by a list of genes termed “signature genes”. A significant challenge facing this approach is that of reproducibility: signatures developed ...

    Authors: Feng Tian, Yajie Wang, Michael Seiler and Zhenjun Hu
    Citation: BMC Medical Genomics 2014 7:45
    Content type: Research article Published on:

  17. The role of copy number variation (CNV) has been poorly explored in essential hypertension in part due to technical difficulties in accurately assessing absolute numbers of DNA copies. Droplet digital PCR (ddP...

    Authors: Francine Z Marques, Priscilla R Prestes, Leonardo B Pinheiro, Katrina Scurrah, Kerry R Emslie, Maciej Tomaszewski, Stephen B Harrap and Fadi J Charchar
    Citation: BMC Medical Genomics 2014 7:44
    Content type: Research article Published on:

  19. Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-associated liver disease with potentially deleterious consequences for the fetus, particularly when maternal serum bile-acid concentration >40 μM. How...

    Authors: QiaoLing Du, YouDong Pan, YouHua Zhang, HaiLong Zhang, YaJuan Zheng, Ling Lu, JunLei Wang, Tao Duan and JianFeng Chen
    Citation: BMC Medical Genomics 2014 7:42
    Content type: Research article Published on:

  20. Dent disease 1 represents a hereditary disorder of renal tubular epithelial function associated with mutations in the CLCN5 gene that encoded the ClC-5 Cl-/H+ antiporter. All of the reported disease-causing mutat...

    Authors: Enrica Tosetto, Alberto Casarin, Leonardo Salviati, Alessandra Familiari, John C Lieske and Franca Anglani
    Citation: BMC Medical Genomics 2014 7:41
    Content type: Research article Published on:

  21. Network inference of gene expression data is an important challenge in systems biology. Novel algorithms may provide more detailed gene regulatory networks (GRN) for complex, chronic inflammatory diseases such...

    Authors: Peter Kupfer, René Huber, Michael Weber, Sebastian Vlaic, Thomas Häupl, Dirk Koczan, Reinhard Guthke and Raimund W Kinne
    Citation: BMC Medical Genomics 2014 7:40
    Content type: Research article Published on:

  22. Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients dis...

    Authors: Christina A Markunas, Eric Lock, Karen Soldano, Heidi Cope, Chien-Kuang C Ding, David S Enterline, Gerald Grant, Herbert Fuchs, Allison E Ashley-Koch and Simon G Gregory
    Citation: BMC Medical Genomics 2014 7:39
    Content type: Research article Published on:

  23. Recent advances in time-lapse monitoring in IVF treatment have provided new morphokinetic markers for embryonic competence. However, there is still very limited information about the relationship between morph...

    Authors: Zhihong Yang, John Zhang, Shala A Salem, Xiaohong Liu, Yanping Kuang, Rifaat D Salem and Jiaen Liu
    Citation: BMC Medical Genomics 2014 7:38
    Content type: Research article Published on:

  24. Mechanisms underlying the development of virus-induced asthma exacerbations remain unclear. To investigate if epigenetic mechanisms could be involved in virus-induced asthma exacerbations, we undertook DNA met...

    Authors: Peter McErlean, Silvio Favoreto Jr, Fabricio F Costa, Junqing Shen, Jihan Quraishi, Assel Biyasheva, Jocelyn J Cooper, Denise M Scholtens, Elio F Vanin, Maria F de Bonaldo, Hehuang Xie, Marcelo B Soares and Pedro C Avila
    Citation: BMC Medical Genomics 2014 7:37
    Content type: Research article Published on:

  25. The outcome of patients with metastatic colorectal carcinoma (mCRC) following first line therapy is poor, with median survival of less than one year. The purpose of this study was to identify candidate therape...

    Authors: Vijayalakshmi Shanmugam, Ramesh K Ramanathan, Nicole A Lavender, Shripad Sinari, Manpreet Chadha, Winnie S Liang, Ahmet Kurdoglu, Tyler Izatt, Alexis Christoforides, Hollie Benson, Lori Phillips, Angela Baker, Christopher Murray, Galen Hostetter, Daniel D Von Hoff, David W Craig…
    Citation: BMC Medical Genomics 2014 7:36
    Content type: Research article Published on:

  26. Cardiac pathological hypertrophy is associated with a significantly increased risk of coronary heart disease and has been observed in diabetic patients treated with rosiglitazone whereas most published studies...

    Authors: Lars Verschuren, Peter Y Wielinga, Thomas Kelder, Marijana Radonjic, Kanita Salic, Robert Kleemann, Ben van Ommen and Teake Kooistra
    Citation: BMC Medical Genomics 2014 7:35
    Content type: Research article Published on:

  27. Genome wide association studies (GWAS) are a population-scale approach to the identification of segments of the genome in which genetic variations may contribute to disease risk. Current methods focus on the d...

    Authors: Chih-yu Chen, I-Shou Chang, Chao A Hsiung and Wyeth W Wasserman
    Citation: BMC Medical Genomics 2014 7:34
    Content type: Research article Published on:

  28. Numerous microarray-based prognostic gene expression signatures of primary neoplasms have been published but often with little concurrence between studies, thus limiting their clinical utility. We describe a m...

    Authors: David W Mount, Charles W Putnam, Sara M Centouri, Ann M Manziello, Ritu Pandey, Linda L Garland and Jesse D Martinez
    Citation: BMC Medical Genomics 2014 7:33
    Content type: Research article Published on:

  29. Novel and targetable mutations are needed for improved understanding and treatment of lung cancer in never-smokers.

    Authors: Zhifu Sun, Liang Wang, Bruce W Eckloff, Bo Deng, Yi Wang, Jason A Wampfler, JinSung Jang, Eric D Wieben, Jin Jen, Ming You and Ping Yang
    Citation: BMC Medical Genomics 2014 7:486
    Content type: Research article Published on:

    The Erratum to this article has been published in BMC Medical Genomics 2017 10:1

  30. Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, wit...

    Authors: Marna McKenzie, Anjali K Henders, Anthony Caracella, Naomi R Wray and Joseph E Powell
    Citation: BMC Medical Genomics 2014 7:31
    Content type: Research article Published on:

  31. Invasion of tumor cells into adjacent brain parenchyma is a major cause of treatment failure in glioblastoma. Furthermore, invasive tumors are shown to have a different genomic composition and metabolic abnorm...

    Authors: Rivka R Colen, Mark Vangel, Jixin Wang, David A Gutman, Scott N Hwang, Max Wintermark, Rajan Jain, Manal Jilwan-Nicolas, James Y Chen, Prashant Raghavan, Chad A Holder, Daniel Rubin, Eric Huang, Justin Kirby, John Freymann, Carl C Jaffe…
    Citation: BMC Medical Genomics 2014 7:30
    Content type: Research article Published on:

  32. Aberrant epigenetic profiles are concomitant with a spectrum of developmental defects and diseases. Role of methylation is an increasingly accepted factor in the pathophysiology of diabetes and its associated ...

    Authors: Sher Zaman Safi, Rajes Qvist, Gracie Ong Siok Yan and Ikram Shah Bin Ismail
    Citation: BMC Medical Genomics 2014 7:29
    Content type: Research article Published on:

  33. Type 1 diabetes (T1D) is an autoimmune disease, while type 2 (T2D) and gestational diabetes (GDM) are considered metabolic disturbances. In a previous study evaluating the transcript profiling of peripheral mo...

    Authors: Adriane F Evangelista, Cristhianna VA Collares, Danilo J Xavier, Claudia Macedo, Fernanda S Manoel-Caetano, Diane M Rassi, Maria C Foss-Freitas, Milton C Foss, Elza T Sakamoto-Hojo, Catherine Nguyen, Denis Puthier, Geraldo A Passos and Eduardo A Donadi
    Citation: BMC Medical Genomics 2014 7:28
    Content type: Research article Published on:

  34. Genome-scale studies of psoriasis have been used to identify genes of potential relevance to disease mechanisms. For many identified genes, however, the cell type mediating disease activity is uncertain, which...

    Authors: William R Swindell, Philip E Stuart, Mrinal K Sarkar, John J Voorhees, James T Elder, Andrew Johnston and Johann E Gudjonsson
    Citation: BMC Medical Genomics 2014 7:27
    Content type: Research article Published on:

  35. Non-coding small RNA molecules play pivotal roles in cellular and developmental processes by regulating gene expression at the post-transcriptional level. In human diseases, the roles of the non-coding small R...

    Authors: Bruna De Felice, Paolo Mondola, Anna Sasso, Giuseppe Orefice, Vincenzo Bresciamorra, Giovanni Vacca, Elio Biffali, Marco Borra and Raimondo Pannone
    Citation: BMC Medical Genomics 2014 7:26
    Content type: Research article Published on:

  36. Widespread adoption of genomic technologies in the management of heterogeneous indications, including Multiple Myeloma, has been hindered by concern over variation between published gene expression signatures,...

    Authors: Ryan van Laar, Rachel Flinchum, Nathan Brown, Joseph Ramsey, Sam Riccitelli, Christoph Heuck, Bart Barlogie and John D Shaughnessy Jr
    Citation: BMC Medical Genomics 2014 7:25
    Content type: Technical advance Published on:

  37. Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studie...

    Authors: Lixian Chang, Weiping Yuan, Huimin Zeng, Quanquan Zhou, Wei Wei, Jianfeng Zhou, Miaomiao Li, Xiaomin Wang, Mingjiang Xu, Fengchun Yang, Yungui Yang, Tao Cheng and Xiaofan Zhu
    Citation: BMC Medical Genomics 2014 7:24
    Content type: Research article Published on:

  38. Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. However, formalin fixation can cause major issues with mol...

    Authors: Stephen Q Wong, Jason Li, Angela Y-C Tan, Ravikiran Vedururu, Jia-Min B Pang, Hongdo Do, Jason Ellul, Ken Doig, Anthony Bell, Grant A McArthur, Stephen B Fox, David M Thomas, Andrew Fellowes, John P Parisot and Alexander Dobrovic
    Citation: BMC Medical Genomics 2014 7:23
    Content type: Research article Published on:

  39. We propose a phenotype-driven analysis of encrypted exome data to facilitate the widespread implementation of exome sequencing as a clinical genetic screening test.

    Authors: Yannis J Trakadis, Caroline Buote, Jean-François Therriault, Pierre-Étienne Jacques, Hugo Larochelle and Sébastien Lévesque
    Citation: BMC Medical Genomics 2014 7:22
    Content type: Software Published on:

  40. Computerized alert and reminder systems have been widely accepted and applied to various patient care settings, with increasing numbers of clinical laboratories communicating critical laboratory test values to...

    Authors: Shu-Wen Lin, Wen-Yi Kang, Dong-Tsamn Lin, James Chao-Shen Lee, Fe-Lin Lin Wu, Chuen-Liang Chen and Yufeng J Tseng
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S13
    Content type: Research Published on:

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

  41. 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

  42. Mapping medical terms to standardized UMLS concepts is a basic step for leveraging biomedical texts in data management and analysis. However, available methods and tools have major limitations in handling quer...

    Authors: Kaiyu Ren, Albert M Lai, Aveek Mukhopadhyay, Raghu Machiraju, Kun Huang and Yang Xiang
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S11
    Content type: Research Published on:

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

  43. Clinical statement alone is not enough to predict the progression of disease. Instead, the gene expression profiles have been widely used to forecast clinical outcomes. Many genes related to survival have been...

    Authors: Je-Gun Joung, Dokyoon Kim, Su Yeon Lee, Hwa Jung Kang and Ju Han Kim
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S10
    Content type: Research Published on:

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

  44. Non-coding sequences such as microRNAs have important roles in disease processes. Computational microRNA target identification (CMTI) is becoming increasingly important since traditional experimental methods f...

    Authors: Shuang Wang, Jihoon Kim, Xiaoqian Jiang, Stefan F Brunner and Lucila Ohno-Machado
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S9
    Content type: Research Published on:

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

  45. There is increasing recognition that asthma and eczema are heterogeneous diseases. We investigated the predictive ability of a spectrum of machine learning methods to disambiguate clinical sub-groups of asthma...

    Authors: Mattia CF Prosperi, Susana Marinho, Angela Simpson, Adnan Custovic and Iain E Buchan
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S7
    Content type: Research Published on:

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

  47. 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

  48. Prostate cancer is one of the most common complex diseases with high leading cause of death in men. Identifications of prostate cancer associated genes and biomarkers are thus essential as they can gain insigh...

    Authors: Yin Li, Wanwipa Vongsangnak, Luonan Chen and Bairong Shen
    Citation: BMC Medical Genomics 2014 7(Suppl 1):S3
    Content type: Research Published on:

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

  49. 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

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