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  1. The advent of personalized medicine requires robust, reproducible biomarkers that indicate which treatment will maximize therapeutic benefit while minimizing side effects and costs. Numerous molecular signatur...

    Authors: Maud HW Starmans, Melania Pintilie, Thomas John, Sandy D Der, Frances A Shepherd, Igor Jurisica, Philippe Lambin, Ming-Sound Tsao and Paul C Boutros
    Citation: Genome Medicine 2012 4:84
  2. Copy number variation (CNV) analysis has had a major impact on the field of medical genetics, providing a mechanism to identify disease-causing genomic alterations in an unprecedented number of diseases and ph...

    Authors: Curtis R Coughlin II, Gunter H Scharer and Tamim H Shaikh
    Citation: Genome Medicine 2012 4:80
  3. A report of BioMed Central's third annual Beyond the Genome conference, held at Harvard Medical School, Boston, September 27-29, 2012.

    Authors: David J Segal
    Citation: Genome Medicine 2012 4:78
  4. Glioblastoma multiforme, the most common type of primary brain tumor in adults, is driven by cells with neural stem (NS) cell characteristics. Using derivation methods developed for NS cells, it is possible to...

    Authors: Pär G Engström, Diva Tommei, Stefan H Stricker, Christine Ender, Steven M Pollard and Paul Bertone
    Citation: Genome Medicine 2012 4:76
  5. MEDLINE®/PubMed® currently indexes over 18 million biomedical articles, providing unprecedented opportunities and challenges for text analysis. Using Medical Subject Heading Over-representation Profiles (MeSHOPs)...

    Authors: Warren A Cheung, BF Francis Ouellette and Wyeth W Wasserman
    Citation: Genome Medicine 2012 4:75
  6. The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include p...

    Authors: Alejandro Sifrim, Jeroen KJ Van Houdt, Leon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Georgios A Pavlopoulos, Koen Devriendt, Joris R Vermeesch, Yves Moreau and Jan Aerts
    Citation: Genome Medicine 2012 4:73
  7. Chronic lung diseases (CLDs), including chronic obstructive pulmonary disease (COPD), are the second leading cause of death worldwide. The first report of database-driven drug discovery in carefully phenotyped...

    Authors: Silke Meiners and Oliver Eickelberg
    Citation: Genome Medicine 2012 4:70
  8. Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease consisting of emphysema, small airway obstruction, and/or chronic bronchitis that results in significant loss of lung function over time.

    Authors: Joshua D Campbell, John E McDonough, Julie E Zeskind, Tillie L Hackett, Dmitri V Pechkovsky, Corry-Anke Brandsma, Masaru Suzuki, John V Gosselink, Gang Liu, Yuriy O Alekseyev, Ji Xiao, Xiaohui Zhang, Shizu Hayashi, Joel D Cooper, Wim Timens, Dirkje S Postma…
    Citation: Genome Medicine 2012 4:67
  9. The utility of mass spectrometry (MS)-based proteomic analyses and their clinical applications have been increasingly recognized over the past decade due to their high sensitivity, specificity and throughput. ...

    Authors: Erin Shammel Baker, Tao Liu, Vladislav A Petyuk, Kristin E Burnum-Johnson, Yehia M Ibrahim, Gordon A Anderson and Richard D Smith
    Citation: Genome Medicine 2012 4:63
  10. MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few years, these regulatory elements have been shown to be involved in an increasing number and range of di...

    Authors: José Carbonell, Eva Alloza, Pablo Arce, Salud Borrego, Javier Santoyo, Macarena Ruiz-Ferrer, Ignacio Medina, Jorge Jiménez-Almazán, Cristina Méndez-Vidal, María González-del Pozo, Alicia Vela, Shomi S Bhattacharya, Guillermo Antiñolo and Joaquín Dopazo
    Citation: Genome Medicine 2012 4:62
  11. Genome-wide association studies have identified several genomic regions that are associated with stroke risk, but these provide an explanation for only a small fraction of familial stroke aggregation. Genotype...

    Authors: Ying Huang, Dennis G Ballinger, Renee Stokowski, Erica Beilharz, Jennifer G Robinson, Simin Liu, Randal D Robinson, Victor W Henderson, Jacques E Rossouw and Ross L Prentice
    Citation: Genome Medicine 2012 4:57
  12. Recent advances in the treatment of cancer have focused on targeting genomicaberrations with selective therapeutic agents. In rare tumors, where large-scaleclinical trials are daunting, this targeted genomic a...

    Authors: Michael J Demeure, David W Craig, Shripad Sinari, Tracy M Moses, Alexis Christoforides, Jennifer Dinh, Tyler Izatt, Jessica Aldrich, Ardis Decker, Angela Baker, Irene Cherni, April Watanabe, Lawrence Koep, Douglas Lake, Galen Hostetter, Jeffrey M Trent…
    Citation: Genome Medicine 2012 4:56
  13. Despite multiple studies demonstrating the importance of the anti-apoptotic proteinMcl-1 in tumor cell survival and treatment resistance, a clinically importantinhibitor has yet to be developed. A recent study...

    Authors: Lukas W Pfannenstiel, Abeba Demelash and Brian R Gastman
    Citation: Genome Medicine 2012 4:53
  14. Antidepressants are among the most commonly prescribed drugs, and a range of medications are available. However, treatment response to a particular drug varies greatly between patients, with only 30% of patien...

    Authors: Karen Hodgson, Shaista Jeelani Mufti, Rudolf Uher and Peter McGuffin
    Citation: Genome Medicine 2012 4:52
  15. Drug-induced liver injury (DILI) is one of the most common adverse reactions leading to product withdrawal post-marketing. Recently, genome-wide association studies have identified a number of human leukocyte ...

    Authors: Ana Alfirevic, Faviel Gonzalez-Galarza, Catherine Bell, Klara Martinsson, Vivien Platt, Giovanna Bretland, Jane Evely, Maike Lichtenfels, Karin Cederbrant, Neil French, Dean Naisbitt, B Kevin Park, Andrew R Jones and Munir Pirmohamed
    Citation: Genome Medicine 2012 4:51
  16. Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized fram...

    Authors: David K Crockett, Perry G Ridge, Andrew R Wilson, Elaine Lyon, Marc S Williams, Scott P Narus, Julio C Facelli and Joyce A Mitchell
    Citation: Genome Medicine 2012 4:48
  17. In addition to mutations, epigenetic silencing of genes has been recognized as a fundamental mechanism that promotes human carcinogenesis. To date, characterization of epigenetic gene silencing has largely foc...

    Authors: Dheepa Balasubramanian, Batool Akhtar-Zaidi, Lingyun Song, Cynthia F Bartels, Martina Veigl, Lydia Beard, Lois Myeroff, Kishore Guda, James Lutterbaugh, Joseph Willis, Gregory E Crawford, Sanford D Markowitz and Peter C Scacheri
    Citation: Genome Medicine 2012 4:47
  18. Regulatory elements play an important role in the variability of individual responses to drug treatment. This has been established through studies on three classes of elements that regulate RNA and protein abu...

    Authors: Robin P Smith, Ernest T Lam, Svetlana Markova, Sook Wah Yee and Nadav Ahituv
    Citation: Genome Medicine 2012 4:45
  19. Presently, colorectal cancer (CRC) is staged preoperatively by radiographic tests, and postoperatively by pathological evaluation of available surgical specimens. However, present staging methods do not accura...

    Authors: Farshad Farshidfar, Aalim M Weljie, Karen Kopciuk, W Don Buie, Anthony MacLean, Elijah Dixon, Francis R Sutherland, Andrea Molckovsky, Hans J Vogel and Oliver F Bathe
    Citation: Genome Medicine 2012 4:42
  20. Altered networks of gene regulation underlie many complex conditions, including cancer. Inferring gene regulatory networks from high-throughput microarray expression data is a fundamental but challenging task ...

    Authors: Piyush B Madhamshettiwar, Stefan R Maetschke, Melissa J Davis, Antonio Reverter and Mark A Ragan
    Citation: Genome Medicine 2012 4:41
  21. The number of metabolites identified in human cerebrospinal fluid (CSF) has steadily increased over the past 5 years, and in this issue of Genome Medicine David Wishart and colleagues provide a comprehensive upda...

    Authors: Emanuel Schwarz, E Fuller Torrey, Paul C Guest and Sabine Bahn
    Citation: Genome Medicine 2012 4:39
  22. The prevalence, and associated healthcare burden, of diabetes mellitus is increasing worldwide. Mortality and morbidity are associated with diabetic complications in multiple organs and tissues, including the ...

    Authors: Marta Ugarte, Marie Brown, Katherine A Hollywood, Garth J Cooper, Paul N Bishop and Warwick B Dunn
    Citation: Genome Medicine 2012 4:35
  23. Genome-wide association studies (GWAS) analyze the genetic component of a phenotype or the etiology of a disease. Despite the success of many GWAS, little progress has been made in uncovering the underlying me...

    Authors: Jerzy Adamski
    Citation: Genome Medicine 2012 4:34
  24. Metabolomics, the non-targeted interrogation of small molecules in a biological sample, is an ideal technology for identifying diagnostic biomarkers. Current tissue extraction protocols involve sample destruct...

    Authors: Meredith V Brown, Jonathan E McDunn, Philip R Gunst, Elizabeth M Smith, Michael V Milburn, Dean A Troyer and Kay A Lawton
    Citation: Genome Medicine 2012 4:33
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