Skip to main content

Articles

Page 26 of 36

  1. Genomic information reported as haplotypes rather than genotypes will be increasingly important for personalized medicine. Current technologies generate diploid sequence data that is rarely resolved into its c...

    Authors: Gustavo Glusman, Hannah C Cox and Jared C Roach
    Citation: Genome Medicine 2014 6:73
    Content type: Review Published on:

  4. As many personal genomes are being sequenced, collaborative analysis of those genomes has become essential. However, analysis of personal genomic data raises important privacy and confidentiality issues. We pr...

    Authors: Amin Ardeshirdavani, Erika Souche, Luc Dehaspe, Jeroen Van Houdt, Joris Robert Vermeesch and Yves Moreau
    Citation: Genome Medicine 2014 6:71
    Content type: Software Published on:

  5. Effectively educating families about the risks and benefits of genomic tests such as whole exome sequencing (WES) offers numerous challenges, including the complexity of test results and potential loss of priv...

    Authors: Sarah Scollon, Katie Bergstrom, Robin A Kerstein, Tao Wang, Susan G Hilsenbeck, Uma Ramamurthy, Richard A Gibbs, Christine M Eng, Murali M Chintagumpala, Stacey L Berg, Laurence B McCullough, Amy L McGuire, Sharon E Plon and D Williams Parsons
    Citation: Genome Medicine 2014 6:69
    Content type: Research Published on:

  6. The evolutionarily conserved DNA mismatch repair (MMR) system corrects base-substitution and insertion-deletion mutations generated during erroneous replication. The mutation or inactivation of many MMR factor...

    Authors: Elena Tosti, Joseph A Katakowski, Sonja Schaetzlein, Hyun-Soo Kim, Colm J Ryan, Michael Shales, Assen Roguev, Nevan J Krogan, Deborah Palliser, Michael-Christopher Keogh and Winfried Edelmann
    Citation: Genome Medicine 2014 6:68
    Content type: Research Published on:

  7. The analysis of the genomic distribution of viral vector genomic integration sites is a key step in hematopoietic stem cell-based gene therapy applications, allowing to assess both the safety and the efficacy ...

    Authors: Andrea Calabria, Simone Leo, Fabrizio Benedicenti, Daniela Cesana, Giulio Spinozzi, Massimilano Orsini, Stefania Merella, Elia Stupka, Gianluigi Zanetti and Eugenio Montini
    Citation: Genome Medicine 2014 6:67
    Content type: Software Published on:

  9. The comparison of DNA methylation patterns across cancer types (pan-cancer methylome analyses) has revealed distinct subgroups of tumors that share similar methylation patterns. Integration of these data with ...

    Authors: Tania Witte, Christoph Plass and Clarissa Gerhauser
    Citation: Genome Medicine 2014 6:66
    Content type: Review Published on:

  12. Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges inc...

    Authors: Thomas W Prior
    Citation: Genome Medicine 2014 6:62
    Content type: Comment Published on:

  13. One of the most provocative recent observations in cancer epigenetics is the discovery of large hypomethylated blocks, including single copy genes, in colorectal cancer, that correspond in location to heteroch...

    Authors: Winston Timp, Hector Corrada Bravo, Oliver G McDonald, Michael Goggins, Chris Umbricht, Martha Zeiger, Andrew P Feinberg and Rafael A Irizarry
    Citation: Genome Medicine 2014 6:61
    Content type: Research Published on:

  15. A relatively large percentage of patients with chronic obstructive pulmonary disease (COPD) develop systemic co-morbidities that affect prognosis, among which muscle wasting is particularly debilitating. Despi...

    Authors: Peter K Davidsen, John M Herbert, Philipp Antczak, Kim Clarke, Elisabet Ferrer, Victor I Peinado, Constancio Gonzalez, Josep Roca, Stuart Egginton, Joan A Barberá and Francesco Falciani
    Citation: Genome Medicine 2014 6:59
    Content type: Research Published on:

  17. With the emergence of electronic medical records and patient portals, patients are increasingly able to access their health records, including laboratory reports. However, laboratory reports are usually writte...

    Authors: Susanne B Haga, Rachel Mills, Kathryn I Pollak, Catherine Rehder, Adam H Buchanan, Isaac M Lipkus, Jennifer H Crow and Michael Datto
    Citation: Genome Medicine 2014 6:58
    Content type: Opinion Published on:

  19. We present an integrated approach that predicts and validates novel anti-cancer drug targets. We first built a classifier that integrates a variety of genomic and systematic datasets to prioritize drug targets...

    Authors: Jouhyun Jeon, Satra Nim, Joan Teyra, Alessandro Datti, Jeffrey L Wrana, Sachdev S Sidhu, Jason Moffat and Philip M Kim
    Citation: Genome Medicine 2014 6:57
    Content type: Method Published on:

  21. No abstract.

    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 6:53
    Content type: Erratum Published on:

    The original article was published in Genome Medicine 2014 6:43

  22. Since January 2008, the National Institutes of Health (NIH) has required that all investigators who receive NIH support submit de-identified high-throughput genomic data to the database of Genotypes and Phenot...

    Authors: Michele L Cote, M Jay Harrison, Angela S Wenzlaff and Ann G Schwartz
    Citation: Genome Medicine 2014 6:54
    Content type: Research Published on:

  23. BRCA1 mutation carriers have an 85% risk of developing breast cancer but the risk of developing non-hereditary breast cancer is difficult to assess. Our objective is to test whether a DNA methylation (DNAme) sign...

    Authors: Shahzia Anjum, Evangelia-Ourania Fourkala, Michal Zikan, Andrew Wong, Aleksandra Gentry-Maharaj, Allison Jones, Rebecca Hardy, David Cibula, Diana Kuh, Ian J Jacobs, Andrew E Teschendorff, Usha Menon and Martin Widschwendter
    Citation: Genome Medicine 2014 6:47
    Content type: Research Published on:

  24. 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:

  25. 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:

  26. 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:

  27. 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

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:
Submit manuscript

Follow

Annual Journal Metrics

  • 2022 Citation Impact
    12.3 - 2-year Impact Factor
    13.8 - 5-year Impact Factor
    2.422 - SNIP (Source Normalized Impact per Paper)
    4.851 - SJR (SCImago Journal Rank)

    2023 Speed
    9 days submission to first editorial decision for all manuscripts (Median)
    185 days submission to accept (Median)

    2023 Usage 
    2,331,772 downloads
    4,916 Altmetric mentions

  • Peer Review Taxonomy

    This journal is participating in a pilot of NISO/STM's Working Group on Peer Review Taxonomy, to identify and standardize definitions and terminology in peer review practices in order to make the peer review process for articles and journals more transparent. Further information on the pilot is available here. 

    The following summary describes the peer review process for this journal:

    • Identity transparency: Single anonymized
    • Reviewer interacts with: Editor
    • Review information published: None

    We welcome your feedback on this Peer Review Taxonomy Pilot. Please can you take the time to complete this short survey.

Genome Medicine

ISSN: 1756-994X

Contact us