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  1. Nearly 40 years ago, DNA was sequenced for the first time. Since then, DNA sequencing has undergone continuous development, passing through three generations of sequencing technology. We are now entering the b...

    Authors: Marco Mignardi and Mats Nilsson
    Citation: Genome Medicine 2014 6:31
    Content type: Research highlight Published on:

  2. Selective inhibitors of the kinases BRAF and MEK for the treatment of patients with otherwise refractory BRAF mutant melanoma have demonstrated impressive efficacy, and combination treatment with these agents may...

    Authors: Jeff Settleman
    Citation: Genome Medicine 2014 6:30
    Content type: Research highlight Published on:

  5. Engraftment of primary pancreas ductal adenocarcinomas (PDAC) in mice to generate patient-derived xenograft (PDX) models is a promising platform for biological and therapeutic studies in this disease. However,...

    Authors: Raquel Martinez-Garcia, David Juan, Antonio Rausell, Manuel Muñoz, Natalia Baños, Camino Menéndez, Pedro P Lopez-Casas, Daniel Rico, Alfonso Valencia and Manuel Hidalgo
    Citation: Genome Medicine 2014 6:27
    Content type: Research Published on:

  6. Variant annotation is a crucial step in the analysis of genome sequencing data. Functional annotation results can have a strong influence on the ultimate conclusions of disease studies. Incorrect or incomplete...

    Authors: Davis J McCarthy, Peter Humburg, Alexander Kanapin, Manuel A Rivas, Kyle Gaulton, Jean-Baptiste Cazier and Peter Donnelly
    Citation: Genome Medicine 2014 6:26
    Content type: Research Published on:

  7. Exposure to environmental mutagens is an important cause of human cancer, and measures to reduce mutagenic and carcinogenic exposures have been highly successful at controlling cancer. Until recently, it has b...

    Authors: Song Ling Poon, John R McPherson, Patrick Tan, Bin Tean Teh and Steven G Rozen
    Citation: Genome Medicine 2014 6:24
    Content type: Review Published on:

  8. Emerging technologies based on mass spectrometry or nuclear magnetic resonance enable the monitoring of hundreds of small metabolites from tissues or body fluids. Profiling of metabolites can help elucidate ca...

    Authors: So-Youn Shin, Ann-Kristin Petersen, Simone Wahl, Guangju Zhai, Werner Römisch-Margl, Kerrin S Small, Angela Döring, Bernet S Kato, Annette Peters, Elin Grundberg, Cornelia Prehn, Rui Wang-Sattler, H-Erich Wichmann, Martin Hrabé de Angelis, Thomas Illig, Jerzy Adamski…
    Citation: Genome Medicine 2014 6:25
    Content type: Research Published on:

  11. Authors: Olaf Wolkenhauer, Charles Auffray, Olivier Brass, Jean Clairambault, Andreas Deutsch, Dirk Drasdo, Francesco Gervasio, Luigi Preziosi, Philip Maini, Anna Marciniak-Czochra, Christina Kossow, Lars Kuepfer, Katja Rateitschak, Ignacio Ramis-Conde, Benjamin Ribba, Andreas Schuppert…
    Citation: Genome Medicine 2014 6:21
    Content type: Comment Published on:

  12. The Killer-cell Immunoglobulin-like Receptor (KIR) gene complex has considerable biomedical importance. Patterns of polymorphism in the KIR region include variability in the gene content of haplotypes and dive...

    Authors: Chrissy h Roberts, Wei Jiang, Jyothi Jayaraman, John Trowsdale, Martin J Holland and James A Traherne
    Citation: Genome Medicine 2014 6:20
    Content type: Method Published on:

  13. Common human diseases are caused by the complex interplay of genetic susceptibility as well as environmental factors. Due to the environment’s influence on the epigenome, and therefore genome function, as well...

    Authors: Gareth A Wilson, Lee M Butcher, Holly R Foster, Andrew Feber, Christian Roos, Lutz Walter, Grzegorz Woszczek, Stephan Beck and Christopher G Bell
    Citation: Genome Medicine 2014 6:19
    Content type: Research Published on:

  14. Since its initiation in 2005, the Harvard Personal Genome Project has enrolled thousands of volunteers interested in publicly sharing their genome, health and trait data. Because these data are highly identifi...

    Authors: Madeleine P Ball, Jason R Bobe, Michael F Chou, Tom Clegg, Preston W Estep, Jeantine E Lunshof, Ward Vandewege, Alexander Wait Zaranek and George M Church
    Citation: Genome Medicine 2014 6:10
    Content type: Open debate Published on:

  15. Lung adenocarcinoma is a highly heterogeneous disease with various etiologies, prognoses, and responses to therapy. Although genome-scale characterization of lung adenocarcinoma has been performed, a comprehen...

    Authors: Jin Woo Ahn, Han Sang Kim, Jung-Ki Yoon, Hoon Jang, Soo Min Han, Sungho Eun, Hyo Sup Shim, Hyun-Jung Kim, Dae Joon Kim, Jin Gu Lee, Chang Young Lee, Mi Kyung Bae, Kyung Young Chung, Ji Ye Jung, Eun Young Kim, Se Kyu Kim…
    Citation: Genome Medicine 2014 6:18
    Content type: Research Published on:

  20. Translational research typically aims to identify and functionally validate individual, disease-specific genes. However, reaching this aim is complicated by the involvement of thousands of genes in common dise...

    Authors: Mika Gustafsson, Måns Edström, Danuta Gawel, Colm E Nestor, Hui Wang, Huan Zhang, Fredrik Barrenäs, James Tojo, Ingrid Kockum, Tomas Olsson, Jordi Serra-Musach, Núria Bonifaci, Miguel Angel Pujana, Jan Ernerudh and Mikael Benson
    Citation: Genome Medicine 2014 6:17
    Content type: Research Published on:

  21. The role of patient engagement as an important risk factor for healthcare outcomes has not been well established. The objective of this article was to systematically review the relationship between patient eng...

    Authors: Leigh Ann Simmons, Ruth Q Wolever, Elizabeth M Bechard and Ralph Snyderman
    Citation: Genome Medicine 2014 6:16
    Content type: Research Published on:

  23. Pancreatic ductal adenocarcinoma (PDA) is a highly lethal cancer characterized by complex aberrant genomes. A fundamental goal of current studies is to identify those somatic events arising in the variable lan...

    Authors: Lisa Evers, Pedro A Perez-Mancera, Elizabeth Lenkiewicz, Nanyun Tang, Daniela Aust, Thomas Knösel, Petra Rümmele, Tara Holley, Michelle Kassner, Meraj Aziz, Ramesh K Ramanathan, Daniel D Von Hoff, Holly Yin, Christian Pilarsky and Michael T Barrett
    Citation: Genome Medicine 2014 6:9
    Content type: Research Published on:

  24. This article provides a framework for disentangling the concept of participation, with emphasis on participation in genomic medicine. We have derived seven ‘dimensions’ of participation that are most frequentl...

    Authors: Christopher Kelty and Aaron Panofsky
    Citation: Genome Medicine 2014 6:8
    Content type: Open debate Published on:

  26. Michael Snyder shares his thoughts on participatory medicine and how omics profiling could fit into this new model of healthcare where patients are at the center of medicine.

    Authors: Michael Snyder
    Citation: Genome Medicine 2014 6:6
    Content type: Q and A Published on:

  27. High-throughput DNA sequencing is revolutionizing the study of cancer and enabling the measurement of the somatic mutations that drive cancer development. However, the resulting sequencing datasets are large a...

    Authors: Benjamin J Raphael, Jason R Dobson, Layla Oesper and Fabio Vandin
    Citation: Genome Medicine 2014 6:5
    Content type: Review Published on:

  31. Acute respiratory illness is the leading cause of asthma exacerbations yet the mechanisms underlying this association remain unclear. To address the deficiencies in our understanding of the molecular events ch...

    Authors: Peter McErlean, Sergejs Berdnikovs, Silvio Favoreto Jr, Junqing Shen, Assel Biyasheva, Rebecca Barbeau, Chris Eisley, Andrea Barczak, Theresa Ward, Robert P Schleimer, David J Erle, Homer A Boushey and Pedro C Avila
    Citation: Genome Medicine 2014 6:1
    Content type: Research Published on:

  32. Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease characterized by varying degrees of emphysematous lung destruction and small airway disease, each with distinct effects on clinical outco...

    Authors: Stephanie A Christenson, Corry-Anke Brandsma, Joshua D Campbell, Darryl A Knight, Dmitri V Pechkovsky, James C Hogg, Wim Timens, Dirkje S Postma, Marc Lenburg and Avrum Spira
    Citation: Genome Medicine 2013 5:114
    Content type: Research Published on:

  33. Multiple laboratories now offer clinical whole genome sequencing (WGS). We anticipate WGS becoming routinely used in research and clinical practice. Many institutions are exploring how best to educate genetici...

    Authors: Saskia C Sanderson, Michael D Linderman, Andrew Kasarskis, Ali Bashir, George A Diaz, Milind C Mahajan, Hardik Shah, Melissa Wasserstein, Randi E Zinberg, Micol Zweig and Eric E Schadt
    Citation: Genome Medicine 2013 5:113
    Content type: Research Published on:

  35. We previously reported mass spectrometry-based proteomic discovery research to identify novel plasma proteins related to the risk of coronary heart disease (CHD) and stroke, and to identify proteins with conce...

    Authors: Ross L Prentice, Shanshan Zhao, Melissa Johnson, Aaron Aragaki, Judith Hsia, Rebecca D Jackson, Jacques E Rossouw, JoAnn E Manson and Samir M Hanash
    Citation: Genome Medicine 2013 5:112
    Content type: Research Published on:

  38. Tumor cells in the blood of patients with metastatic carcinomas are associated with poor survival. Knowledge of the cells’ genetic make-up can help to guide targeted therapy. We evaluated the efficiency and qu...

    Authors: Joost F Swennenhuis, Joke Reumers, Kim Thys, Jeroen Aerssens and Leon WMM Terstappen
    Citation: Genome Medicine 2013 5:106
    Content type: Research Published on:

  39. A-to-I RNA editing is a post-transcriptional modification that converts adenosines to inosines in both coding and noncoding RNA transcripts. It is catalyzed by ADAR (adenosine deaminase acting on RNA) enzymes,...

    Authors: William Slotkin and Kazuko Nishikura
    Citation: Genome Medicine 2013 5:105
    Content type: Review Published on:

  41. Patient-specific aberrant expression patterns in conjunction with functional screening assays can guide elucidation of the cancer genome architecture and identification of therapeutic targets. Since most stati...

    Authors: Daniel Bottomly, Peter A Ryabinin, Jeffrey W Tyner, Bill H Chang, Marc M Loriaux, Brian J Druker, Shannon K McWeeney and Beth Wilmot
    Citation: Genome Medicine 2013 5:103
    Content type: Research Published on:

  44. Genomics research is becoming increasingly globally connected and collaborative, contesting traditional ethical and legal boundaries between global and local research practice. As well, global data-driven geno...

    Authors: Edward S Dove, Bartha M Knoppers and Ma’n H Zawati
    Citation: Genome Medicine 2013 5:99
    Content type: Open debate Published on:

  46. T-cell antigen receptor (TCR) variability enables the cellular immune system to discriminate between self and non-self. High-throughput TCR sequencing (TCR-seq) involves the use of next generation sequencing p...

    Authors: Daniel J Woodsworth, Mauro Castellarin and Robert A Holt
    Citation: Genome Medicine 2013 5:98
    Content type: Review Published on:

  48. Preterm birth confers a high risk of adverse long term health outcomes for survivors, yet the underlying molecular mechanisms are unclear. We hypothesized that effects of preterm birth can be mediated through ...

    Authors: Mark N Cruickshank, Alicia Oshlack, Christiane Theda, Peter G Davis, David Martino, Penelope Sheehan, Yun Dai, Richard Saffery, Lex W Doyle and Jeffrey M Craig
    Citation: Genome Medicine 2013 5:96
    Content type: Research Published on:

  49. Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel ...

    Authors: Chantal A Mutsaers, Douglas J Lamont, Gillian Hunter, Thomas M Wishart and Thomas H Gillingwater
    Citation: Genome Medicine 2013 5:95
    Content type: Research Published on:
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Genome Medicine

ISSN: 1756-994X

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