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  1. 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

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

  2. 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

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

  3. 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

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

  4. 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

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

  5. 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

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

  6. 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

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

  7. 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
  8. Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient...

    Authors: Tobias Meißner, Kathleen M Fisch, Louis Gioia and Andrew I Su
    Citation: BMC Medical Genomics 2015 8:24
  9. Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors contributing to its pathogenesis, although the mechanism is unknown due to the difficulties in accessing diseased tissue du...

    Authors: Mariana Maschietto, Ana C Tahira, Renato Puga, Leandro Lima, Daniel Mariani, Bruna da Silveira Paulsen, Paulo Belmonte-de-Abreu, Henrique Vieira, Ana CV Krepischi, Dirce M Carraro, Joana A Palha, Stevens Rehen and Helena Brentani
    Citation: BMC Medical Genomics 2015 8:23
  10. The effects of dose-rate and its implications on radiation biodosimetry methods are not well studied in the context of large-scale radiological scenarios. There are significant health risks to individuals expo...

    Authors: Shanaz A. Ghandhi, Lubomir B. Smilenov, Carl D. Elliston, Mashkura Chowdhury and Sally A. Amundson
    Citation: BMC Medical Genomics 2015 8:22
  11. Recent genome-wide association studies (GWAS) have shown that single nucleotide polymorphisms (SNPs) in the Chr9p21 region are associated with coronary artery disease (CAD). Most of the SNPs identified in this...

    Authors: Wei Zhao, Jennifer A Smith, Guangmei Mao, Myriam Fornage, Patricia A Peyser, Yan V Sun, Stephen T Turner and Sharon LR Kardia
    Citation: BMC Medical Genomics 2015 8:21
  12. Metabolic syndrome (MetS) is characterized by central obesity, insulin resistance, dysglycemia, and a pro-atherogenic plasma lipid profile. MetS creates a high risk for development of type 2 diabetes (T2DM) an...

    Authors: Tineke C. T. M. van der Pouw Kraan, Weena J. Chen, Mathijs C. M. Bunck, Daniel H. van Raalte, Nynke J. van der Zijl, Renate E. van Genugten, Liselotte van Bloemendaal, Josefien M. Baggen, Erik H. Serné, Michaela Diamant and Anton J. G. Horrevoets
    Citation: BMC Medical Genomics 2015 8:20
  13. Targeted PCR-based genetic testing for BRCA1 and BRCA2 can be performed at a lower cost than full gene testing; however, it may overlook mutations responsible for familial breast and/or ovarian cancers. In the pr...

    Authors: Anna Kluska, Aneta Balabas, Agnieszka Paziewska, Maria Kulecka, Dorota Nowakowska, Michal Mikula and Jerzy Ostrowski
    Citation: BMC Medical Genomics 2015 8:19
  14. The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis...

    Authors: Duncan H Whitney, Michael R Elashoff, Kate Porta-Smith, Adam C Gower, Anil Vachani, J Scott Ferguson, Gerard A Silvestri, Jerome S Brody, Marc E Lenburg and Avrum Spira
    Citation: BMC Medical Genomics 2015 8:18
  15. Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in ...

    Authors: Christina A Castellani, Benjamin I Laufer, Melkaye G Melka, Eric J Diehl, Richard L O’Reilly and Shiva M Singh
    Citation: BMC Medical Genomics 2015 8:17
  16. Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience...

    Authors: James C Ryan, Qingzhong Wu and Ritchie C Shoemaker
    Citation: BMC Medical Genomics 2015 8:15
  17. Ischemic cardiomyopathy (ICM) is characterized by transcriptomic changes that alter cellular processes leading to decreased cardiac output. Because the molecular network of ICM is largely unknown, the aim of t...

    Authors: Isabel Herrer, Esther Roselló-Lletí, Ana Ortega, Estefanía Tarazón, María Micaela Molina-Navarro, Juan Carlos Triviño, Luis Martínez-Dolz, Luis Almenar, Francisca Lago, Ignacio Sánchez-Lázaro, José Ramón González-Juanatey, Antonio Salvador, Manuel Portolés and Miguel Rivera
    Citation: BMC Medical Genomics 2015 8:14
  18. A novel class of transcripts, long non-coding RNAs (lncRNAs), has recently emerged as a key player in several biological processes, and important roles for these molecules have been reported in a number of com...

    Authors: ZhaoHui Luo, Ye Li, XiaoFang Liu, MengChuan Luo, LiQun Xu, YueBei Luo, Bo Xiao and Huan Yang
    Citation: BMC Medical Genomics 2015 8:13
  19. Statin therapy plays a pivotal role in stabilizing the plaque for unstable angina (UA) patients although its mechanism(s) remains largely unexplored. Here we aim to identify microRNAs (miRNAs) mediating the pr...

    Authors: Jingjin Li, Hong Chen, Jingyi Ren, Junxian Song, Feng Zhang, Jing Zhang, Chongyou Lee, Sufang Li, Qiang Geng, Chengfu Cao and Ning Xu
    Citation: BMC Medical Genomics 2015 8:12
  20. MicroRNAs (miRNAs) are small non-coding RNAs that recognize sites of complementarity of target messenger RNAs, resulting in transcriptional regulation and translational repression of target genes. In Huntingto...

    Authors: Andrew G Hoss, Adam Labadorf, Jeanne C Latourelle, Vinay K Kartha, Tiffany C Hadzi, James F Gusella, Marcy E MacDonald, Jiang-Fan Chen, Schahram Akbarian, Zhiping Weng, Jean Paul Vonsattel and Richard H Myers
    Citation: BMC Medical Genomics 2015 8:10
  21. Single base level information from next-generation sequencing (NGS) allows for the quantitative assessment of biological phenomena such as mosaicism or allele-specific features in healthy and diseased cells. S...

    Authors: Alessandro Romanel, Sara Lago, Davide Prandi, Andrea Sboner and Francesca Demichelis
    Citation: BMC Medical Genomics 2015 8:9
  22. The editors of BMC Medical Genomics would like to thank all our reviewers who have contributed to the journal in Volume 7 (2014).

    Authors: Tim Sands
    Citation: BMC Medical Genomics 2015 8:8
  23. Atherosclerosis severity-independent alterations in DNA methylation, a reversible and highly regulated DNA modification, have been detected in aortic atheromas, thus supporting the hypothesis that epigenetic m...

    Authors: María del Pilar Valencia-Morales, Silvio Zaina, Holger Heyn, F Javier Carmona, Nuray Varol, Sergi Sayols, Enric Condom, José Ramírez-Ruz, Antonio Gomez, Sebastian Moran, Gertrud Lund, Dalia Rodríguez-Ríos, Gladys López-González, Magda Ramírez-Nava, Carmen de la Rocha, Alejandro Sanchez-Flores…
    Citation: BMC Medical Genomics 2015 8:7
  24. Early detection and treatment of non-invasive neoplasms can effectively reduce the incidence of advanced gastric carcinoma (GC), but only when the lineage is continuous between non-invasive and advanced tumour...

    Authors: Diem Thi-Ngoc Vo, Takahisa Nakayama, Hiroto Yamamoto, Ken-ichi Mukaisho, Takanori Hattori and Hiroyuki Sugihara
    Citation: BMC Medical Genomics 2015 8:6
  25. Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy numb...

    Authors: Joseph M Foster, Assa Oumie, Fiona S Togneri, Fabiana Ramos Vasques, Debra Hau, Morag Taylor, Emma Tinkler-Hundal, Katie Southward, Paul Medlow, Keith McGreeghan-Crosby, Iris Halfpenny, Dominic J McMullan, Phil Quirke, Katherine E Keating, Mike Griffiths, Karen G Spink…
    Citation: BMC Medical Genomics 2015 8:5
  26. African Americans (AA) have more pronounced insulin resistance and higher insulin secretion than European Americans (Caucasians or CA) when matched for age, gender, and body mass index (BMI). We hypothesize th...

    Authors: Swapan Kumar Das, Neeraj Kumar Sharma and Bin Zhang
    Citation: BMC Medical Genomics 2015 8:4
  27. Personalized medicine has become a priority in breast cancer patient management. In addition to the routinely used clinicopathological characteristics, clinicians will have to face an increasing amount of data...

    Authors: Tatiana Kempowsky-Hamon, Carine Valle, Magali Lacroix-Triki, Lyamine Hedjazi, Lidwine Trouilh, Sophie Lamarre, Delphine Labourdette, Laurence Roger, Loubna Mhamdi, Florence Dalenc, Thomas Filleron, Gilles Favre, Jean-Marie François, Marie-Véronique Le Lann and Véronique Anton-Leberre
    Citation: BMC Medical Genomics 2015 8:3
  28. A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics. This an...

    Authors: Elisabeth Castellanos, Isabel Bielsa, Cristina Carrato, Imma Rosas, Ares Solanes, Cristina Hostalot, Emilio Amilibia, José Prades, Francesc Roca-Ribas, Conxi Lázaro, Ignacio Blanco and Eduard Serra
    Citation: BMC Medical Genomics 2015 8:2
  29. Negative regulators of signal transduction cascades play critical roles in controlling different aspects of normal embryonic development. Sprouty2 (Spry2) negatively regulates receptor tyrosine kinases (RTK) and ...

    Authors: Muhammad Abu-Elmagd, Katarzyna Goljanek Whysall, Grant Wheeler and Andrea Münsterberg
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S8

    This article is part of a Supplement: Volume 8 Supplement 1

  30. A substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de novo germline and rare inherited genetic variation. In particular, rare copy number variation (CNV) contributes to ASD risk in up to 1...

    Authors: Worrawat Engchuan, Kiret Dhindsa, Anath C Lionel, Stephen W Scherer, Jonathan H Chan and Daniele Merico
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S7

    This article is part of a Supplement: Volume 8 Supplement 1

  31. Many pharmaceutical drugs are known to be ineffective or have negative side effects in a substantial proportion of patients. Genomic advances are revealing that some non-synonymous single nucleotide variants (...

    Authors: Nevin Z Gerek, Li Liu, Kristyn Gerold, Pegah Biparva, Eric D Thomas and Sudhir Kumar
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S6

    This article is part of a Supplement: Volume 8 Supplement 1

  32. Epigenetic alterations are considered to be very influential in both the normal and disease states of an organism. These alterations include methylation, acetylation, phosphorylation, and ubiquitylation of DNA...

    Authors: Mahmood Rasool, Arif Malik, Muhammad Imran Naseer, Abdul Manan, Shakeel Ahmed Ansari, Irshad Begum, Mahmood Husain Qazi, Peter Natesan Pushparaj, Adel M Abuzenadah, Mohammed Hussein Al-Qahtani, Mohammad Amjad Kamal and Siew Hua Gan
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S5

    This article is part of a Supplement: Volume 8 Supplement 1

  33. Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a ...

    Authors: Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani and Hasan Saleh Jamal
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S4

    This article is part of a Supplement: Volume 8 Supplement 1

  34. The biomedical research sector in Saudi Arabia has recently received special attention from the government, which is currently supporting research aimed at improving the understanding and treatment of common d...

    Authors: Muhammad Abu-Elmagd, Mourad Assidi, Hans-Juergen Schulten, Ashraf Dallol, Peter Natesan Pushparaj, Farid Ahmed, Stephen W Scherer and Mohammed Al-Qahtani
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S3

    This article is part of a Supplement: Volume 8 Supplement 1

  35. Obesity, a major public health concern, is a multifactorial disease caused by both environmental and genetic factors. Although recent genome-wide association studies have identified many loci related to obesit...

    Authors: Tao Huang and Frank B Hu
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S2

    This article is part of a Supplement: Volume 8 Supplement 1

  36. Exacerbations of chronic obstructive pulmonary disease (COPD), characterized by acute deterioration in symptoms, may be due to bacterial or viral infections, environmental exposures, or unknown factors. Exacer...

    Authors: Jarrett D Morrow, Weiliang Qiu, Divya Chhabra, Stephen I Rennard, Paula Belloni, Anton Belousov, Sreekumar G Pillai and Craig P Hersh
    Citation: BMC Medical Genomics 2015 8:1
  37. Tumorigenesis is characterised by changes in transcriptional control. Extensive transcript expression data have been acquired over the last decade and used to classify prostate cancers. Prostate cancer is, how...

    Authors: Stefan J Barfeld, Phil East, Verena Zuber and Ian G Mills
    Citation: BMC Medical Genomics 2014 7:513
  38. Psychiatric disorders such as schizophrenia (SZ) and bipolar disorder (BP) are projected to lead the global disease burden within the next decade. Several lines of evidence suggest that epigenetic- or genetic-...

    Authors: Zheng Zhao, Yongsheng Li, Hong Chen, Jianping Lu, Peter M Thompson, Juan Chen, Zishan Wang, Juan Xu, Chun Xu and Xia Li
    Citation: BMC Medical Genomics 2014 7:71
  39. Clinical and histological parameters are valid prognostic markers in renal disease, although they may show considerable interindividual variability and sometimes limited prognostic value. Novel molecular marke...

    Authors: Hannes Neuwirt, Paul Perco, Alexander Kainz, Irmgard Mühlberger, Johannes Leierer, Suzie-Jane Braniff, Bernd Mayer, Gert Mayer and Michael Rudnicki
    Citation: BMC Medical Genomics 2014 7:75
  40. Mitochondrial DNA mutations may be associated with cardiovascular disease, including the common cardiac vascular disease, hypertension.

    Authors: Yuqi Liu, Qinglei Zhu, Chao Zhu, Xueping Wang, Jie Yang, Tong Yin, Jinliao Gao, Zongbin Li, Qinghua Ma, Minxin Guan, Yang Li and Yundai Chen
    Citation: BMC Medical Genomics 2014 7:73
  41. Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy nu...

    Authors: Guylaine D’Amours, Mathieu Langlois, Géraldine Mathonnet, Raouf Fetni, Sonia Nizard, Myriam Srour, Frédérique Tihy, Michael S Phillips, Jacques L Michaud and Emmanuelle Lemyre
    Citation: BMC Medical Genomics 2014 7:70
  42. Developing efficacious medications to treat methamphetamine dependence is a global challenge in public health. Topiramate (TPM) is undergoing evaluation for this indication. The molecular mechanisms underlying...

    Authors: Ming D Li, Ju Wang, Tianhua Niu, Jennie Z Ma, Chamindi Seneviratne, Nassima Ait-Daoud, Jim Saadvandi, Rana Morris, David Weiss, Jan Campbell, William Haning, David J Mawhinney, Denis Weis, Michael McCann, Christopher Stock, Roberta Kahn…
    Citation: BMC Medical Genomics 2014 7:65
  43. Neoadjuvant chemoradiotherapy (nCRT) followed by radical surgery is the preferred treatment strategy for locally advanced rectal cancer. However, complete tumor regression is observed in a significant proporti...

    Authors: Camila Miranda Lopes-Ramos, Angelita Habr-Gama, Bruna de Souza Quevedo, Natália Mariana Felício, Fabiana Bettoni, Fernanda Christtanini Koyama, Paula Fontes Asprino, Pedro Alexandre Galante, Joaquim Gama-Rodrigues, Anamaria Aranha Camargo, Rodrigo Oliva Perez and Raphael Bessa Parmigiani
    Citation: BMC Medical Genomics 2014 7:68
  44. Given the growing use of whole-exome sequencing (WES) for clinical diagnostics of complex human disorders, we evaluated coverage of clinically relevant cardiac genes on WES and factors influencing uniformity a...

    Authors: Dorin Manase, Lisa CA D’Alessandro, Ashok Kumar Manickaraj, Saeed Al Turki, Matthew E Hurles and Seema Mital
    Citation: BMC Medical Genomics 2014 7:67
  45. Majority of influenza A viruses reside and circulate among animal populations, seldom infecting humans due to host range restriction. Yet when some avian strains do acquire the ability to overcome species barr...

    Authors: Christine LP Eng, Joo Chuan Tong and Tin Wee Tan
    Citation: BMC Medical Genomics 2014 7(Suppl 3):S1

    This article is part of a Supplement: Volume 7 Supplement 3

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