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  1. We present a method, seq2HLA, for obtaining an individual's human leukocyte antigen (HLA) class I and II type and expression using standard next generation sequencing RNA-Seq data. RNA-Seq reads are mapped aga...

    Authors: Sebastian Boegel, Martin Löwer, Michael Schäfer, Thomas Bukur, Jos de Graaf, Valesca Boisguérin, Özlem Türeci, Mustafa Diken, John C Castle and Ugur Sahin
    Citation: Genome Medicine 2012 4:102
  2. The aim of this study was to clarify the role of global hypomethylation of repetitive elements in determining the genetic and clinical features of multiple myeloma (MM).

    Authors: Yuka Aoki, Masanori Nojima, Hiromu Suzuki, Hiroshi Yasui, Reo Maruyama, Eiichiro Yamamoto, Masami Ashida, Mitsuhiro Itagaki, Hideki Asaoku, Hiroshi Ikeda, Toshiaki Hayashi, Kohzoh Imai, Mitsuru Mori, Takashi Tokino, Tadao Ishida, Minoru Toyota…
    Citation: Genome Medicine 2012 4:101

    The Erratum to this article has been published in Genome Medicine 2013 5:88

  3. Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in gen...

    Authors: Flora Tassone, Ka Pou Iong, Tzu-Han Tong, Joyce Lo, Louise W Gane, Elizabeth Berry-Kravis, Danh Nguyen, Lisa Y Mu, Jennifer Laffin, Don B Bailey and Randi J Hagerman
    Citation: Genome Medicine 2012 4:100
  4. The human leukocyte antigen (HLA) is key to many aspects of human physiology and medicine. All current sequence-based HLA typing methodologies are targeted approaches requiring the amplification of specific HL...

    Authors: René L Warren, Gina Choe, Douglas J Freeman, Mauro Castellarin, Sarah Munro, Richard Moore and Robert A Holt
    Citation: Genome Medicine 2012 4:95
  5. Glucocorticoids, such as prednisolone, are widely used anti-inflammatory drugs, but therapy is hampered by a broad range of metabolic side effects including skeletal muscle wasting and insulin resistance. Ther...

    Authors: Sandrine Ellero-Simatos, Ewa Szymańska, Ton Rullmann, Wim HA Dokter, Raymond Ramaker, Ruud Berger, Thijs MP van Iersel, Age K Smilde, Thomas Hankemeier and Wynand Alkema
    Citation: Genome Medicine 2012 4:94
  6. The goal of personalized medicine is to tailor a patient's treatment strategy on the basis of his or her unique genetic make-up. The field of oncology is beginning to incorporate many of the strategies of pers...

    Authors: Erika L Moen, Lucy A Godley, Wei Zhang and M Eileen Dolan
    Citation: Genome Medicine 2012 4:90
  7. In an ongoing clinical trial, the genetic and environmental risk assessment (GERA) blood test offers subjects information about personal colorectal cancer risk through measurement of two novel low-to-moderate ...

    Authors: Michael J Hall, Sharon L Manne, Ronald E Myers, Eileen M Keenan, Andrew M Balshem and David S Weinberg
    Citation: Genome Medicine 2012 4:92
  8. Translation of pharmacogenomics to public health action is at the epicenter of the life sciences agenda. Post-genomics knowledge is simultaneously co-produced at multiple scales and locales by scientists, crow...

    Authors: Edward S Dove, Samer A Faraj, Eugene Kolker and Vural Özdemir
    Citation: Genome Medicine 2012 4:91
  9. Genomic variants with a key role in causing cancer or affecting the response to cancertherapeutics need to be identified so that they can be targeted for therapy. The transFIC tool aimsto identify somatic poin...

    Authors: Vidhya G Krishnan and Pauline C Ng
    Citation: Genome Medicine 2012 4:88
  10. We here present a comparative genome, transcriptome and functional network analysis of three human cancer cell lines (A431, U251MG and U2OS), and investigate their relation to protein expression. Gene copy num...

    Authors: Pelin Akan, Andrey Alexeyenko, Paul Igor Costea, Lilia Hedberg, Beata Werne Solnestam, Sverker Lundin, Jimmie Hällman, Emma Lundberg, Mathias Uhlén and Joakim Lundeberg
    Citation: Genome Medicine 2012 4:86
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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

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