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  1. Transformation and clonal proliferation of T-cells infected with human T-cell leukemia virus type-I (HTLV-1) cause adult T-cell leukemia. We took advantage of next-generation sequencing technology to develop a...

    Authors: Sanaz Firouzi, Yosvany López, Yutaka Suzuki, Kenta Nakai, Sumio Sugano, Tadanori Yamochi and Toshiki Watanabe
    Citation: Genome Medicine 2014 6:46
    Content type: Method Published on:

  2. A key challenge in the analysis of cancer genomes is the identification of driver genes from the vast number of mutations present in a cohort of patients. DOTS-Finder is a new tool that allows the detection of...

    Authors: Giorgio EM Melloni, Alessandro GE Ogier, Stefano de Pretis, Luca Mazzarella, Mattia Pelizzola, Pier Giuseppe Pelicci and Laura Riva
    Citation: Genome Medicine 2014 6:44
    Content type: Research Published on:

  4. Epistasis has been dismissed by some as having little role in the genetic architecture of complex human disease. The authors argue that this view is the result of a misconception and explain why exploring epis...

    Authors: Trudy FC Mackay and Jason H Moore
    Citation: Genome Medicine 2014 6:42
    Content type: Comment Published on:

    The Erratum to this article has been published in Genome Medicine 2015 7:85

  6. Genetic risk scores have been developed for coronary artery disease and atherosclerosis, but are not predictive of adverse cardiovascular events. We asked whether peripheral blood expression profiles may be pr...

    Authors: Jinhee Kim, Nima Ghasemzadeh, Danny J Eapen, Neo Christopher Chung, John D Storey, Arshed A Quyyumi and Greg Gibson
    Citation: Genome Medicine 2014 6:40
    Content type: Research Published on:

  7. Common infrastructures and platforms are required for international collaborations in large-scale human genomic research and policy development, such as the Global Alliance for Genomics and Health and the ‘ELS...

    Authors: Go Yoshizawa, Calvin Wai-Loon Ho, Wei Zhu, Chingli Hu, Yoni Syukriani, Ilhak Lee, Hannah Kim, Daniel Fu Chang Tsai, Jusaku Minari and Kazuto Kato
    Citation: Genome Medicine 2014 6:39
    Content type: Review Published on:

  9. Mucinous neoplasms of the appendix (MNA) are rare tumors which may progress from benign to malignant disease with an aggressive biological behavior. MNA is often diagnosed after metastasis to the peritoneal su...

    Authors: Hakan Alakus, Michele L Babicky, Pradipta Ghosh, Shawn Yost, Kristen Jepsen, Yang Dai, Angelo Arias, Michael L Samuels, Evangeline S Mose, Richard B Schwab, Michael R Peterson, Andrew M Lowy, Kelly A Frazer and Olivier Harismendy
    Citation: Genome Medicine 2014 6:43
    Content type: Research Published on:

    The Erratum to this article has been published in Genome Medicine 2014 6:53

  10. Disclosure of individual results to participants in genomic research is a complex and contentious issue. There are many existing commentaries and opinion pieces on the topic, but little empirical data concerni...

    Authors: Amber L Johns, David K Miller, Skye H Simpson, Anthony J Gill, Karin S Kassahn, Jeremy L Humphris, Jaswinder S Samra, Katherine Tucker, Lesley Andrews, David K Chang, Nicola Waddell, Marina Pajic, John V Pearson, Sean M Grimmond, Andrew V Biankin and Nikolajs Zeps
    Citation: Genome Medicine 2014 6:42
    Content type: Research Published on:

  12. Assessment of somatic genomic alterations from tumors can now be performed by sequencing circulating tumor DNA from the cell-free component of blood. This procedure, which identifies tumor-derived somatic muta...

    Authors: Mark Sausen, Sonya Parpart and Luis A Diaz Jr
    Citation: Genome Medicine 2014 6:35
    Content type: Research highlight Published on:

  13. Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as ‘routine’ in screens of genetically heterogeneous diso...

    Authors: A Eliot Shearer, Diana L Kolbe, Hela Azaiez, Christina M Sloan, Kathy L Frees, Amy E Weaver, Erika T Clark, Carla J Nishimura, E Ann Black-Ziegelbein and Richard J H Smith
    Citation: Genome Medicine 2014 6:37
    Content type: Research Published on:

  14. Aberrant DNA methylation is frequently found in human malignancies including acute myeloid leukemia (AML). While most studies focus on later disease stages, the onset of aberrant DNA methylation events and the...

    Authors: Miriam Sonnet, Rainer Claus, Natalia Becker, Manuela Zucknick, Jana Petersen, Daniel B Lipka, Christopher C Oakes, Mindaugas Andrulis, Amelie Lier, Michael D Milsom, Tania Witte, Lei Gu, Soo-Zin Kim-Wanner, Peter Schirmacher, Michael Wulfert, Norbert Gattermann…
    Citation: Genome Medicine 2014 6:34
    Content type: Research Published on:

  16. Target identification is a critical step in the lengthy and expensive process of drug development. Here, we describe a genome-wide screening platform that uses systematic overexpression of pooled human ORFs to...

    Authors: Anthony Arnoldo, Saranya Kittanakom, Lawrence E Heisler, Anthony B Mak, Andrey I Shukalyuk, Dax Torti, Jason Moffat, Guri Giaever and Corey Nislow
    Citation: Genome Medicine 2014 6:32
    Content type: Method Published on:

  17. 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:

  18. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  36. 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:

  37. 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:

  39. 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:

  40. 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:

  42. 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:

  43. 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:

  47. 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:

  48. 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:

  49. 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:
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Genome Medicine

ISSN: 1756-994X

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