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  1. Essential hypertension is a significant risk factor for cardiovascular diseases. Emerging research suggests a role of DNA methylation in blood pressure physiology. We aimed to investigate epigenetic associatio...

    Authors: Adrian E. Boström, Jessica Mwinyi, Sarah Voisin, Wenting Wu, Bernd Schultes, Kang Zhang and Helgi B. Schiöth
    Citation: BMC Medical Genomics 2016 9:20
    Content type: Research article Published on:

  2. Sequencing of both healthy and disease singletons yields many novel and low frequency variants of uncertain significance (VUS). Complete gene and genome sequencing by next generation sequencing (NGS) significa...

    Authors: Eliseos J. Mucaki, Natasha G. Caminsky, Ami M. Perri, Ruipeng Lu, Alain Laederach, Matthew Halvorsen, Joan H. M. Knoll and Peter K. Rogan
    Citation: BMC Medical Genomics 2016 9:19
    Content type: Technical advance Published on:

  3. Liver cancer, of which hepatocellular carcinoma (HCC) is by far the most common type, is the second most deadly cancer (746,000 deaths in 2012). Currently, the only curative treatment for HCC is surgery to rem...

    Authors: Qing Yan Xie, Anthony Almudevar, Christa L. Whitney-Miller, Christopher T. Barry and Matthew N. McCall
    Citation: BMC Medical Genomics 2016 9:18
    Content type: Research article Published on:

  4. The question of whether DNA obtained from saliva is an acceptable alternative to DNA from blood is a topic of considerable interest for large genetics studies. We compared the yields, quality and performance o...

    Authors: Harini V. Gudiseva, Mark Hansen, Linda Gutierrez, David W. Collins, Jie He, Lana D. Verkuil, Ian D. Danford, Anna Sagaser, Anita S. Bowman, Rebecca Salowe, Prithvi S. Sankar, Eydie Miller-Ellis, Amanda Lehman and Joan M. O’Brien
    Citation: BMC Medical Genomics 2016 9:17
    Content type: Research article Published on:

  5. Mutation studies of pancreatic ductal adenocarcinoma (PDA) have revealed complicated heterogeneous genomic landscapes of the disease. These studies cataloged a number of genes mutated at high frequencies, but ...

    Authors: Yen-Yi Ho, Timothy K. Starr, Rebecca S. LaRue and David A. Largaespada
    Citation: BMC Medical Genomics 2016 9:16
    Content type: Research Article Published on:

  6. Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC...

    Authors: Mansi Vishal, Anchal Sharma, Lalit Kaurani, Giovanna Alfano, Suddhasil Mookherjee, Kiran Narta, Jyoti Agrawal, Iman Bhattacharya, Susanta Roychoudhury, Jharna Ray, Naushin H. Waseem, Shomi S. Bhattacharya, Analabha Basu, Abhijit Sen, Kunal Ray and Arijit Mukhopadhyay
    Citation: BMC Medical Genomics 2016 9:15
    Content type: Research article Published on:

  7. Because of the rapid development in genomics, more research findings have emerged. However, the association between society and research results remains controversial. This article examines the experiences and...

    Authors: Keiko Miyamoto, Miho Iwakuma and Takeo Nakayama
    Citation: BMC Medical Genomics 2016 9:14
    Content type: Research article Published on:

    The Erratum to this article has been published in BMC Medical Genomics 2017 10:6

  8. Diamond–Blackfan anemia (DBA) was the first ribosomopathy associated with mutations in ribosome protein (RP) genes. The clinical phenotypes of DBA include failure of erythropoiesis, congenital anomalies and ca...

    Authors: Yang Wan, Qian Zhang, Zhaojun Zhang, Binfeng Song, Xiaomin Wang, Yingchi Zhang, Qiong Jia, Tao Cheng, Xiaofan Zhu, Anskar Yu-Hung Leung, Weiping Yuan, Haibo Jia and Xiangdong Fang
    Citation: BMC Medical Genomics 2016 9:13
    Content type: Research article Published on:

  9. The systemic information enclosed in microarray data encodes relevant clues to overcome the poorly understood combination of genetic and environmental factors in Parkinson’s disease (PD), which represents the ...

    Authors: Maykel Cruz-Monteagudo, Fernanda Borges, Cesar Paz-y-Miño, M. Natália D. S. Cordeiro, Irene Rebelo, Yunierkis Perez-Castillo, Aliuska Morales Helguera, Aminael Sánchez-Rodríguez and Eduardo Tejera
    Citation: BMC Medical Genomics 2016 9:12
    Content type: Research article Published on:

  10. One of the most important objectives of the clinical cancer research is to diagnose cancer more accurately based on the patients’ gene expression profiles. Both Cox proportional hazards model (Cox) and acceler...

    Authors: Yong Liang, Hua Chai, Xiao-Ying Liu, Zong-Ben Xu, Hai Zhang and Kwong-Sak Leung
    Citation: BMC Medical Genomics 2016 9:11
    Content type: Research article Published on:

  11. Melanoma is a cancer with rising incidence and new therapeutics are needed. For this, it is necessary to understand the molecular mechanisms of melanoma development and progression. Melanoma differs from other...

    Authors: Theresa Kordaß, Claudia E. M. Weber, Marcus Oswald, Volker Ast, Mathias Bernhardt, Daniel Novak, Jochen Utikal, Stefan B. Eichmüller and Rainer König
    Citation: BMC Medical Genomics 2016 9:10
    Content type: Research article Published on:

  12. Asthma is strongly associated with allergic sensitization, but the mechanisms that determine why only a subset of atopics develop asthma are not well understood. The aim of this study was to test the hypothesi...

    Authors: Niamh M. Troy, Elysia M. Hollams, Patrick G. Holt and Anthony Bosco
    Citation: BMC Medical Genomics 2016 9:9
    Content type: Research article Published on:

  13. The editors of BMC Medical Genomics would like to thank all our reviewers who have contributed to the journal in Volume 8 (2015).

    Authors: Timothy R. Sands
    Citation: BMC Medical Genomics 2016 9:8
    Content type: Reviewer acknowledgement Published on:

  14. Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases,...

    Authors: Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra-Knol, Egbert J. W. Redeker, Marcel M. A. M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M. A. van Ravenswaaij-Arts, Richard J. Sinke and Birgit Sikkema-Raddatz
    Citation: BMC Medical Genomics 2016 9:7
    Content type: Research article Published on:

  15. Necrotizing enterocolitis (NEC) is the most frequent life-threatening gastrointestinal disease experienced by premature infants in neonatal intensive care units. The challenge for neonatologists is to detect e...

    Authors: Éric Tremblay, Marie-Pier Thibault, Emanuela Ferretti, Corentin Babakissa, Valérie Bertelle, Marcos Bettolli, Karolina Maria Burghardt, Jean-François Colombani, David Grynspan, Emile Levy, Peng Lu, Sandeep Mayer, Daniel Ménard, Olivier Mouterde, Ingrid B. Renes, Ernest G. Seidman…
    Citation: BMC Medical Genomics 2016 9:6
    Content type: Research article Published on:

  16. Parkinson disease (PD) is a neurodegenerative disease characterized by the accumulation of alpha-synuclein (SNCA) and other proteins in aggregates termed “Lewy Bodies” within neurons. PD has both genetic and e...

    Authors: Alexandra Dumitriu, Javad Golji, Adam T. Labadorf, Benbo Gao, Thomas G. Beach, Richard H. Myers, Kenneth A. Longo and Jeanne C. Latourelle
    Citation: BMC Medical Genomics 2016 9:5
    Content type: Research article Published on:

  17. Anorexia nervosa (AN) is a complex psychiatric disease with a moderate to strong genetic contribution. In addition to conventional genome wide association (GWA) studies, researchers have been using machine lea...

    Authors: Yiran Guo, Zhi Wei, Brendan J. Keating and Hakon Hakonarson
    Citation: BMC Medical Genomics 2016 9:4
    Content type: Research article Published on:

  18. Various approaches are being used to predict individual risk to polygenic diseases from data provided by genome-wide association studies. As there are substantial differences between the diseases investigated,...

    Authors: Víctor Potenciano, María Mar Abad-Grau, Antonio Alcina and Fuencisla Matesanz
    Citation: BMC Medical Genomics 2016 9:3
    Content type: Research Article Published on:

  19. Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number...

    Authors: Yu An, Wenyuan Duan, Guoying Huang, Xiaoli Chen, Li Li, Chenxia Nie, Jia Hou, Yonghao Gui, Yiming Wu, Feng Zhang, Yiping Shen, Bailin Wu and Hongyan Wang
    Citation: BMC Medical Genomics 2016 9:2
    Content type: Research article Published on:

  20. Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-...

    Authors: Kristin Wiisanen Weitzel, Madeline Alexander, Barbara A. Bernhardt, Neil Calman, David J. Carey, Larisa H. Cavallari, Julie R. Field, Diane Hauser, Heather A. Junkins, Phillip A. Levin, Kenneth Levy, Ebony B. Madden, Teri A. Manolio, Jacqueline Odgis, Lori A. Orlando, Reed Pyeritz…
    Citation: BMC Medical Genomics 2016 9:1
    Content type: Research article Published on:

  21. Gene expression profiling (GEP) has significantly contributed to the elucidation of the molecular heterogeneity of multiple myeloma plasma cells (MMPC) and only recently it has been recommended for risk strati...

    Authors: Tobias Meißner, Anja Seckinger, Kari Hemminki, Uta Bertsch, Asta Foersti, Mathias Haenel, Jan Duering, Hans Salwender, Hartmut Goldschmidt, Gareth J. Morgan, Dirk Hose and Niels Weinhold
    Citation: BMC Medical Genomics 2015 8:85
    Content type: Research Article Published on:

  22. Although Helicobacter pylori (H.pylori) is the dominant gastrointestinal pathogen, the genetic and molecular mechanisms underlying H.pylori-related diseases have not been fully elucidated. Long non-coding RNAs (l...

    Authors: Hong Zhu, Qiang Wang, Yizheng Yao, Jian Fang, Fengying Sun, Ying Ni, Yixin Shen, Hua Wang and Shihe Shao
    Citation: BMC Medical Genomics 2015 8:84
    Content type: Research article Published on:

  23. The molecular mechanisms leading to sporadic medullary thyroid carcinoma (sMTC) and juvenile papillary thyroid carcinoma (PTC), two rare tumours of the thyroid gland, remain poorly understood. Genetic studies ...

    Authors: Berta Luzón-Toro, Marta Bleda, Elena Navarro, Luz García-Alonso, Macarena Ruiz-Ferrer, Ignacio Medina, Marta Martín-Sánchez, Cristina Y. Gonzalez, Raquel M. Fernández, Ana Torroglosa, Guillermo Antiñolo, Joaquin Dopazo and Salud Borrego
    Citation: BMC Medical Genomics 2015 8:83
    Content type: Research article Published on:

  24. Phenotype-based high-throughput screening is a useful technique for identifying drug candidate compounds that have a desired phenotype. However, the molecular mechanisms of the hit compounds remain unknown, an...

    Authors: Yoshiyuki Hizukuri, Ryusuke Sawada and Yoshihiro Yamanishi
    Citation: BMC Medical Genomics 2015 8:82
    Content type: Research article Published on:

  25. Hepatitis C virus (HCV) belongs to Flaviviridae family of viruses. HCV represents a major challenge to public health since its estimated global prevalence is 2.8% of the world's human population. The design and d...

    Authors: Jing Sun and Vladimir Brusic
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S6
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  26. g-FLUA2H is a web-based application focused on the analysis of the dynamics of influenza virus animal-to-human (A2H) mutation transmissions. The application only requires the viral protein sequences from both ...

    Authors: Muhammad Farhan Sjaugi, Swan Tan, Hadia Syahirah Abd Raman, Wan Ching Lim, Nik Elena Nik Mohamed, J Thomas August and Asif M Khan
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S5
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  27. Computer-aided drug design has a long history of being applied to discover new molecules to treat various cancers, but it has always been focused on single targets. The development of systems biology has let s...

    Authors: Yung-Hao Wong, Chih-Lung Lin, Ting-Shou Chen, Chien-An Chen, Pei-Shin Jiang, Yi-Hua Lai, Lichieh Julie Chu, Cheng-Wei Li, Jeremy JW Chen and Bor-Sen Chen
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S4
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  28. High genetic heterogeneity in the hepatitis C virus (HCV) is the major challenge of the development of an effective vaccine. Existing studies for developing HCV vaccines have mainly focused on T-cell immune re...

    Authors: Wen-Lin Huang, Ming-Ju Tsai, Kai-Ti Hsu, Jyun-Rong Wang, Yi-Hsiung Chen and Shinn-Ying Ho
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S3
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  29. Network analysis is a common approach for the study of genetic view of diseases and biological pathways. Typically, when a set of genes are identified to be of interest in relation to a disease, say through a ...

    Authors: Adam Handen and Madhavi K Ganapathiraju
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  30. Computational methods for T cell-based vaccine target discovery focus on selection of highly conserved peptides identified across pathogen variants, followed by prediction of their binding of human leukocyte a...

    Authors: Lars R Olsen, Christian Simon, Ulrich J Kudahl, Frederik O Bagger, Ole Winther, Ellis L Reinherz, Guang L Zhang and Vladimir Brusic
    Citation: BMC Medical Genomics 2015 8(Suppl 4):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 4

  31. IL-10 is an immunoregulatory cytokine that increases during malignant diseases. The purpose of this study was to: i) determine the mRNA amounts of IL-10, IL-10Rα, and IL-10Rβ in cutaneous and uveal melanoma cells...

    Authors: Isabella Venza, Maria Visalli, Concetta Beninati, Salvatore Benfatto, Diana Teti and Mario Venza
    Citation: BMC Medical Genomics 2015 8:81
    Content type: Research article Published on:

  32. Breast cancer biological characteristics change as age advances. Today, there is a lack of knowledge regarding age-specific molecular alterations that characterize breast tumours, notably in elderly patients. ...

    Authors: Pascal Jézéquel, Zein Sharif, Hamza Lasla, Wilfried Gouraud, Catherine Guérin-Charbonnel, Loïc Campion, Stéphane Chrétien and Mario Campone
    Citation: BMC Medical Genomics 2015 8:80
    Content type: Research article Published on:

  33. Neurogenic neuroprotection is a promising approach for treating patients with ischemic brain lesions. Fastigial nucleus stimulation (FNS) has been shown to reduce the tissue damage resulting from focal cerebra...

    Authors: Ling-Bo Feng, Xiao-Min Pang, Lei Zhang, Jin-Pin Li, Li-Gang Huang, Sheng-You Su, Xia Zhou, Sheng-Hua Li, Hui-Yao Xiang, Chun-Yong Chen and Jing-Li Liu
    Citation: BMC Medical Genomics 2015 8:79
    Content type: Research article Published on:

  35. Comparative analysis of gene expression in human tissues is important for understanding the molecular mechanisms underlying tissue-specific control of gene expression. It can also open an avenue for using gene...

    Authors: Justin W. Halloran, Dakai Zhu, David C. Qian, Jinyoung Byun, Olga Y. Gorlova, Christopher I. Amos and Ivan P. Gorlov
    Citation: BMC Medical Genomics 2015 8:77
    Content type: Research article Published on:

  37. MicroRNAs (miRNAs) are important regulators of gene expression, with documented roles in bone metabolism and osteoporosis, suggesting potential therapeutic targets. Our aim was to identify miRNAs differentiall...

    Authors: Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, Robert Güerri-Fernández, Santos Martinez-Diaz, Leonardo Mellibovsky, Roser Urreizti, Xavier Nogués, Daniel Grinberg, Natalia García-Giralt and Adolfo Díez-Pérez
    Citation: BMC Medical Genomics 2015 8:75
    Content type: Research article Published on:

    The Erratum to this article has been published in BMC Medical Genomics 2017 10:36

  38. TGFβ1-induced expression of transforming growth factor β-induced protein (TGFBIp) and extracellular matrix (ECM) genes plays a major role in the development of granular corneal dystrophy type 2 (GCD2: also cal...

    Authors: Yong-Sun Maeng, Ga-Hyun Lee, Seung-Il Choi, Kyu Seo Kim and Eung Kweon Kim
    Citation: BMC Medical Genomics 2015 8:74
    Content type: Research article Published on:

  39. DNA methylation at CpG dinucleotides is modified in tumorigenesis with potential impact on transcriptional activity.

    Authors: Martin Lauss, Markus Ringnér, Anna Karlsson, Katja Harbst, Christian Busch, Jürgen Geisler, Per Eystein Lønning, Johan Staaf and Göran Jönsson
    Citation: BMC Medical Genomics 2015 8:73
    Content type: Research article Published on:

  40. Women with a family history of breast cancer face considerable uncertainty about whether to pursue standard screening, intensive screening, or prophylactic surgery. Accurate and individualized risk-estimation ...

    Authors: Stephen R. Piccolo, Irene L. Andrulis, Adam L. Cohen, Thomas Conner, Philip J. Moos, Avrum E. Spira, Saundra S. Buys, W. Evan Johnson and Andrea H. Bild
    Citation: BMC Medical Genomics 2015 8:72
    Content type: Research article Published on:

  42. Despite an augmented research effort and scale-up of highly active antiretroviral therapy, a high prevalence of HIV-1-associated neurocognitive disorders (HAND) persists in the HIV-infected population. Nearly ...

    Authors: Tess Z Griffin, Weiliang Kang, Yongjie Ma and Ming Zhang
    Citation: BMC Medical Genomics 2015 8:70
    Content type: Database Published on:

  43. Synovial sarcoma (SS) is one of the most aggressive soft-tissue sarcomas and is noted for late local recurrence and metastasis. It is of uncertain histological origin and exhibits a biphasic histopathological ...

    Authors: Yan Qi, Ning Wang, Li-Juan Pang, Hong Zou, Jian-Ming Hu, Jin Zhao, Jun Zhang, Chun-Xia Liu, Wen-Jie Zhang, Xiang-Lin Yuan and Feng Li
    Citation: BMC Medical Genomics 2015 8:69
    Content type: Research article Published on:

  44. Glioblastoma multiforme (GBM) is the most common and aggressive malignant brain tumor. Even with vigorous surgery, radiation and chemotherapy treatment, survival rates of GBM are very poor and predictive marke...

    Authors: Ruty Mehrian-Shai, Michal Yalon, Amos J. Simon, Eran Eyal, Tatyana Pismenyuk, Itai Moshe, Shlomi Constantini and Amos Toren
    Citation: BMC Medical Genomics 2015 8:68
    Content type: Research article Published on:

  45. Amniotic fluid (AF) is a proximal fluid to the fetus containing higher amounts of cell-free fetal RNA/DNA than maternal serum, thereby making it a promising source for identifying novel biomarkers that predict...

    Authors: Beena D. Kamath-Rayne, Yina Du, Maria Hughes, Erin A. Wagner, Louis J. Muglia, Emily A. DeFranco, Jeffrey A. Whitsett, Nathan Salomonis and Yan Xu
    Citation: BMC Medical Genomics 2015 8:67
    Content type: Research article Published on:

  46. Traditionally, the CD56dimCD16+ subset of Natural Killer (NK) cells has been thought to mediate cellular cytotoxicity with modest cytokine secretion capacity. However, studies have suggested that this subset may ...

    Authors: Amanda R. Campbell, Kelly Regan, Neela Bhave, Arka Pattanayak, Robin Parihar, Andrew R. Stiff, Prashant Trikha, Steven D. Scoville, Sandya Liyanarachchi, Sri Vidya Kondadasula, Omkar Lele, Ramana Davuluri, Philip R. O. Payne and William E. Carson III
    Citation: BMC Medical Genomics 2015 8:66
    Content type: Research article Published on:

  47. Obesity, defined as pathologically increased body mass index (BMI), is strongly related to an increased risk for numerous common cardiovascular and metabolic diseases. It is particularly associated with insuli...

    Authors: Georg Homuth, Simone Wahl, Christian Müller, Claudia Schurmann, Ulrike Mäder, Stefan Blankenberg, Maren Carstensen, Marcus Dörr, Karlhans Endlich, Christian Englbrecht, Stephan B. Felix, Christian Gieger, Harald Grallert, Christian Herder, Thomas Illig, Jochen Kruppa…
    Citation: BMC Medical Genomics 2015 8:65
    Content type: Research article Published on:

  48. While next-generation sequencing (NGS) costs have plummeted in recent years, cost and complexity of computation remain substantial barriers to the use of NGS in routine clinical care. The clinical potential of...

    Authors: Yassine Souilmi, Alex K. Lancaster, Jae-Yoon Jung, Ettore Rizzo, Jared B. Hawkins, Ryan Powles, Saaïd Amzazi, Hassan Ghazal, Peter J. Tonellato and Dennis P. Wall
    Citation: BMC Medical Genomics 2015 8:64
    Content type: Technical advance Published on:

  49. Direct access to genomic information has the potential to transform cancer risk counseling. We measured the impact of direct-to-consumer genomic risk information on changes to perceived risk (ΔPR) of breast, p...

    Authors: Deanna Alexis Carere, Tyler VanderWeele, Tanya A. Moreno, Joanna L. Mountain, J. Scott Roberts, Peter Kraft and Robert C. Green
    Citation: BMC Medical Genomics 2015 8:63
    Content type: Research article Published on:

  50. Non-cellular blood circulating microRNAs (plasma miRNAs) represent a promising source for the development of prognostic and diagnostic tools owing to their minimally invasive sampling, high stability, and simp...

    Authors: Sabine Ameling, Tim Kacprowski, Ravi Kumar Chilukoti, Carolin Malsch, Volkmar Liebscher, Karsten Suhre, Maik Pietzner, Nele Friedrich, Georg Homuth, Elke Hammer and Uwe Völker
    Citation: BMC Medical Genomics 2015 8:61
    Content type: Research article Published on:
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