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  1. Comprehensive identification of insertions/deletions (indels) across the full size spectrum from second generation sequencing is challenging due to the relatively short read length inherent in the technology. ...

    Authors: Rendong Yang, Andrew C. Nelson, Christine Henzler, Bharat Thyagarajan and Kevin A. T. Silverstein
    Citation: Genome Medicine 2015 7:127
    Content type: Method Published on:

  2. Primary amoebic meningoencephalitis (PAM) is a rare, often lethal, cause of encephalitis, for which early diagnosis and prompt initiation of combination antimicrobials may improve clinical outcomes.

    Authors: Alexander L. Greninger, Kevin Messacar, Thelma Dunnebacke, Samia N. Naccache, Scot Federman, Jerome Bouquet, David Mirsky, Yosuke Nomura, Shigeo Yagi, Carol Glaser, Michael Vollmer, Craig A. Press, Bette K. Kleinschmidt-DeMasters, Samuel R. Dominguez and Charles Y. Chiu
    Citation: Genome Medicine 2015 7:113
    Content type: Research Published on:

    The Erratum to this article has been published in Genome Medicine 2016 8:1

  3. Deep sequencing of recombined T cell receptor (TCR) genes and transcripts has provided a view of T cell repertoire diversity at an unprecedented resolution. Beyond profiling peripheral blood, analysis of tissu...

    Authors: Scott D. Brown, Lisa A. Raeburn and Robert A. Holt
    Citation: Genome Medicine 2015 7:125
    Content type: Method Published on:

  4. Despite the potential to produce antibodies that can neutralize different virus (heterotypic neutralization), there is no knowledge of why vaccination against influenza induces protection predominantly against...

    Authors: Bernardo Cortina-Ceballos, Elizabeth Ernestina Godoy-Lozano, Juan Téllez-Sosa, Marbella Ovilla-Muñoz, Hugo Sámano-Sánchez, Andrés Aguilar-Salgado, Rosa Elena Gómez-Barreto, Humberto Valdovinos-Torres, Irma López-Martínez, Rodrigo Aparicio-Antonio, Mario H. Rodríguez and Jesús Martínez-Barnetche
    Citation: Genome Medicine 2015 7:124
    Content type: Research Published on:

  5. The adaptive immune system generates a remarkable range of antigen-specific T-cell receptors (TCRs), allowing the recognition of a diverse set of antigens. Most of this diversity is encoded in the complementar...

    Authors: Jared Dean, Ryan O. Emerson, Marissa Vignali, Anna M. Sherwood, Mark J. Rieder, Christopher S. Carlson and Harlan S. Robins
    Citation: Genome Medicine 2015 7:123
    Content type: Research Published on:

  6. Activation and differentiation of T-helper (Th) cells into Th1 and Th2 types is a complex process orchestrated by distinct gene activation programs engaging a number of genes. This process is crucial for a rob...

    Authors: Kartiek Kanduri, Subhash Tripathi, Antti Larjo, Henrik Mannerström, Ubaid Ullah, Riikka Lund, R. David Hawkins, Bing Ren, Harri Lähdesmäki and Riitta Lahesmaa
    Citation: Genome Medicine 2015 7:122
    Content type: Research Published on:

  10. Human cancer cell lines are an important resource for research and drug development. However, the available annotations of cell lines are sparse, incomplete, and distributed in multiple repositories. Re-analyz...

    Authors: Jelle Scholtalbers, Sebastian Boegel, Thomas Bukur, Marius Byl, Sebastian Goerges, Patrick Sorn, Martin Loewer, Ugur Sahin and John C. Castle
    Citation: Genome Medicine 2015 7:118
    Content type: Database Published on:

  15. Gene profiling of diffuse large B cell lymphoma (DLBCL) has revealed broad gene expression deregulation compared to normal B cells. While many studies have interrogated well known and annotated genes in DLBCL,...

    Authors: Akanksha Verma, Yanwen Jiang, Wei Du, Lauren Fairchild, Ari Melnick and Olivier Elemento
    Citation: Genome Medicine 2015 7:110
    Content type: Research Published on:

  16. The Cancer Genome Atlas (TCGA) project has generated genomic data sets covering over 20 malignancies. These data provide valuable insights into the underlying genetic and genomic basis of cancer. However, expl...

    Authors: HoJoon Lee, Jennifer Palm, Susan M. Grimes and Hanlee P. Ji
    Citation: Genome Medicine 2015 7:112
    Content type: Database Published on:

  18. We have previously shown that childhood-onset rheumatic diseases show aberrant patterns of gene expression that reflect pathology-associated co-expression networks. In this study, we used novel computational a...

    Authors: Nan Du, Kaiyu Jiang, Ashley D. Sawle, Mark Barton Frank, Carol A. Wallace, Aidong Zhang and James N. Jarvis
    Citation: Genome Medicine 2015 7:109
    Content type: Research Published on:

  19. Understanding carboplatin resistance in ovarian cancer is critical for the improvement of patients’ lives. Multipotent mesenchymal stem cells or an aggravated epithelial to mesenchymal transition phenotype of ...

    Authors: Andrew E. Teschendorff, Shih-Han Lee, Allison Jones, Heidi Fiegl, Marie Kalwa, Wolfgang Wagner, Kantaraja Chindera, Iona Evans, Louis Dubeau, Arturo Orjalo, Hugo M. Horlings, Lukas Niederreiter, Arthur Kaser, Winnie Yang, Ellen L. Goode, Brooke L. Fridley…
    Citation: Genome Medicine 2015 7:108
    Content type: Research Published on:

  20. Alterations in RNA splicing are frequent in human tumors. Two recent studies of lymphoma and breast cancer have identified components of the spliceosome — the core splicing machinery — that are essential for m...

    Authors: Olga Anczuków and Adrian R. Krainer
    Citation: Genome Medicine 2015 7:107
    Content type: Research Highlight Published on:

  21. Alzheimer’s disease is the most common type of dementia, and it is characterized by a decline in memory or other thinking skills. The greatest risk factor for Alzheimer’s disease is advanced age. A recent geno...

    Authors: Rita Guerreiro and Jose Bras
    Citation: Genome Medicine 2015 7:106
    Content type: Research Highlight Published on:

  22. Obesity is a multi-factorial health problem in which genetic factors play an important role. Limited results have been obtained in single-gene studies using either genomic or transcriptomic data. RNA sequencin...

    Authors: Lisette J. A. Kogelman, Daria V. Zhernakova, Harm-Jan Westra, Susanna Cirera, Merete Fredholm, Lude Franke and Haja N. Kadarmideen
    Citation: Genome Medicine 2015 7:105
    Content type: Research Published on:

  23. The use of somatic mutations for predicting clinical outcome is difficult because a mutation can indirectly influence the function of many genes, and also because clinical follow-up is sparse in the relatively...

    Authors: Lőrinc Pongor, Máté Kormos, Christos Hatzis, Lajos Pusztai, András Szabó and Balázs Győrffy
    Citation: Genome Medicine 2015 7:104
    Content type: Research Published on:

  24. The mechanisms by which genetic variants, such as single nucleotide polymorphisms (SNPs), identified in genome-wide association studies act to influence body mass remain unknown for most of these SNPs, which c...

    Authors: Sarah Voisin, Markus Sällman Almén, Galina Y. Zheleznyakova, Lina Lundberg, Sanaz Zarei, Sandra Castillo, Fia Ence Eriksson, Emil K. Nilsson, Matthias Blüher, Yvonne Böttcher, Peter Kovacs, Janis Klovins, Mathias Rask-Andersen and Helgi B. Schiöth
    Citation: Genome Medicine 2015 7:103
    Content type: Research Published on:

  25. In addition to HLA genetic incompatibility, non-HLA difference between donor and recipients of transplantation leading to allograft rejection are now becoming evident. We aimed to create a unique genome-wide p...

    Authors: Yun R. Li, Jessica van Setten, Shefali S. Verma, Yontao Lu, Michael V. Holmes, Hui Gao, Monkol Lek, Nikhil Nair, Hareesh Chandrupatla, Baoli Chang, Konrad J. Karczewski, Chanel Wong, Maede Mohebnasab, Eyas Mukhtar, Randy Phillips, Vinicius Tragante…
    Citation: Genome Medicine 2015 7:90
    Content type: Research Published on:

  26. While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in...

    Authors: Neil A. Miller, Emily G. Farrow, Margaret Gibson, Laurel K. Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter, Josh E. Petrikin, Carol J. Saunders, Isabelle Thiffault, Sarah E. Soden, Laurie D. Smith, Darrell L. Dinwiddie…
    Citation: Genome Medicine 2015 7:100
    Content type: Method Published on:

  27. The cause of a complex disease cannot be pinpointed to a single origin; rather, a highly complex network of many factors that interact on different levels over time and space is disturbed. This complexity requ...

    Authors: Marc Kirschner, Angela Bauch, Alvar Agusti, Sebastian Hilke, Sibylle Merk, Christophe Pison, Jim Roldan, Bernard Seidenath, Michael Wilken, Emiel F. Wouters, Hans-Werner Mewes, Klaus Heumann and Dieter Maier
    Citation: Genome Medicine 2015 7:102
    Content type: Comment Published on:

  28. We report unbiased metagenomic detection of chikungunya virus (CHIKV), Ebola virus (EBOV), and hepatitis C virus (HCV) from four human blood samples by MinION nanopore sequencing coupled to a newly developed, ...

    Authors: Alexander L. Greninger, Samia N. Naccache, Scot Federman, Guixia Yu, Placide Mbala, Vanessa Bres, Doug Stryke, Jerome Bouquet, Sneha Somasekar, Jeffrey M. Linnen, Roger Dodd, Prime Mulembakani, Bradley S. Schneider, Jean-Jacques Muyembe-Tamfum, Susan L. Stramer and Charles Y. Chiu
    Citation: Genome Medicine 2015 7:99
    Content type: Method Published on:

  29. Studies of historical isolates inform on the evolution and emergence of important pathogens and phenotypes, including antimicrobial resistance. Crucial to studying antimicrobial resistance are isolates that pr...

    Authors: Kate S. Baker, Edward Burnett, Hannah McGregor, Ana Deheer-Graham, Christine Boinett, Gemma C. Langridge, Alexander M. Wailan, Amy K. Cain, Nicholas R. Thomson, Julie E. Russell and Julian Parkhill
    Citation: Genome Medicine 2015 7:97
    Content type: Correspondance Published on:

  30. Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fib...

    Authors: Malcolm Brodlie, Iram J. Haq, Katie Roberts and J. Stuart Elborn
    Citation: Genome Medicine 2015 7:101
    Content type: Review Published on:

  31. Carcinoma of the oral tongue (OTSCC) is the most common malignancy of the oral cavity, characterized by frequent recurrence and poor survival. The last three decades has witnessed a change in the OTSCC epidemi...

    Authors: Andre Luiz Vettore, Kalpana Ramnarayanan, Gregory Poore, Kevin Lim, Choon Kiat Ong, Kie Kyon Huang, Hui Sun Leong, Fui Teen Chong, Tony Kiat-Hon Lim, Weng Khong Lim, Ioana Cutcutache, John R. Mcpherson, Yuka Suzuki, Shenli Zhang, Thakshayeni Skanthakumar, Weining Wang…
    Citation: Genome Medicine 2015 7:98
    Content type: Research Published on:

  32. Cancers adapt to immune-surveillance through evasion. Immune responses against carcinoma and melanoma converge on cytotoxic effectors and IFNγ-STAT1-IRF1 signalling. Local IFN-driven immune checkpoint expressi...

    Authors: Matthew A. Care, David R. Westhead and Reuben M. Tooze
    Citation: Genome Medicine 2015 7:96
    Content type: Research Published on:

  35. Each cell type found within the human body performs a diverse and unique set of functions, the disruption of which can lead to disease. However, there currently exists no systematic mapping between cell types ...

    Authors: Alex J. Cornish, Ioannis Filippis, Alessia David and Michael J.E. Sternberg
    Citation: Genome Medicine 2015 7:95
    Content type: Research Published on:

  36. Neurodevelopmental disorders such as autism and intellectual disability have a sex bias skewed towards boys; however, systematic assessment of this bias is complicated by the presence of significant genetic an...

    Authors: Andrew Polyak, Jill A. Rosenfeld and Santhosh Girirajan
    Citation: Genome Medicine 2015 7:94
    Content type: Research Published on:

  37. The ability to modify the genome of any cell at a precise location has drastically improved with the recent discovery and implementation of CRISPR/Cas9 editing technology. However, the capacity to introduce sp...

    Authors: Francis Robert, Mathilde Barbeau, Sylvain Éthier, Josée Dostie and Jerry Pelletier
    Citation: Genome Medicine 2015 7:93
    Content type: Research Published on:

  39. Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most common neurological conditions. The genetic basis of epilepsy is clear from epidemiological studies and from rare ge...

    Authors: Candace T. Myers and Heather C. Mefford
    Citation: Genome Medicine 2015 7:91
    Content type: Review Published on:

  40. The prevalence of allergic diseases are increasing worldwide, emphasizing the need to elucidate their pathogeneses. The aims of this study were to use a two-stage design to identify DNA methylation levels at c...

    Authors: Todd M. Everson, Genevieve Lyons, Hongmei Zhang, Nelís Soto-Ramírez, Gabrielle A. Lockett, Veeresh K. Patil, Simon K. Merid, Cilla Sӧderhӓll, Erik Melén, John W. Holloway, S. Hasan Arshad and Wilfried Karmaus
    Citation: Genome Medicine 2015 7:89
    Content type: Research Published on:

  41. Personalized medicine is predicated on the notion that individual biochemical and genomic profiles are relatively constant in times of good health and to some extent predictive of disease or therapeutic respon...

    Authors: Rubina Tabassum, Ambily Sivadas, Vartika Agrawal, Haozheng Tian, Dalia Arafat and Greg Gibson
    Citation: Genome Medicine 2015 7:88
    Content type: Research Published on:

  42. Mucinous ovarian tumors are an unusual group of rare neoplasms with an apparently clear progression from benign to borderline to carcinoma, yet with a controversial cell of origin in the ovarian surface epithe...

    Authors: Georgina L. Ryland, Sally M. Hunter, Maria A. Doyle, Franco Caramia, Jason Li, Simone M. Rowley, Michael Christie, Prue E. Allan, Andrew N. Stephens, David D L Bowtell, Ian G. Campbell and Kylie L. Gorringe
    Citation: Genome Medicine 2015 7:87
    Content type: Research Published on:

    The Erratum to this article has been published in Genome Medicine 2017 9:1

  44. Psoriasis is a chronic disease characterized by the development of scaly red skin lesions and possible co-morbid conditions. The psoriasis lesional skin transcriptome has been extensively investigated, but mRN...

    Authors: William R. Swindell, Henriette A. Remmer, Mrinal K. Sarkar, Xianying Xing, Drew H. Barnes, Liza Wolterink, John J. Voorhees, Rajan P. Nair, Andrew Johnston, James T. Elder and Johann E. Gudjonsson
    Citation: Genome Medicine 2015 7:86
    Content type: Research Published on:

  45. New methods for epigenome editing now make it possible to manipulate the epigenome in living cells with unprecedented specificity and efficiency. These ground-breaking approaches are beginning to yield novel i...

    Authors: Anna Köferle, Stefan H. Stricker and Stephan Beck
    Citation: Genome Medicine 2015 7:59
    Content type: Comment Published on:

    The Erratum to this article has been published in Genome Medicine 2015 7:75

  47. There is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). However, some customers may also be motivated by finding out whether their exis...

    Authors: Susanne F. Meisel, Deanna Alexis Carere, Jane Wardle, Sarah S. Kalia, Tanya A. Moreno, Joanna L. Mountain, J. Scott Roberts and Robert C. Green
    Citation: Genome Medicine 2015 7:74
    Content type: Research Published on:

  48. Incidental findings are the subject of intense ethical debate in medical genomic research. Every human genome contains a number of potentially disease-causing alterations that may be detected during comprehens...

    Authors: Sebastian Schuol, Christoph Schickhardt, Stefan Wiemann, Claus R. Bartram, Klaus Tanner, Roland Eils, Benjamin Meder, Daniela Richter, Hanno Glimm, Christof von Kalle and Eva C. Winkler
    Citation: Genome Medicine 2015 7:83
    Content type: Opinion Published on:
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Genome Medicine

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