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  1. 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:

  3. 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:

  6. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  15. Implementation of pharmacogenomics (PGx) in clinical care can lead to improved drug efficacy and reduced adverse drug reactions. However, there has been a lag in adoption of PGx tests in clinical practice. Thi...

    Authors: Neda Gharani, Margaret A Keller, Catharine B Stack, Laura M Hodges, Tara J Schmidlen, Daniel E Lynch, Erynn S Gordon and Michael F Christman
    Citation: Genome Medicine 2013 5:93
    Content type: Method Published on:

  16. Systemic chemotherapy in the adjuvant setting can cure breast cancer in some patients that would otherwise recur with incurable, metastatic disease. However, since only a fraction of patients would have recurr...

    Authors: Obi L Griffith, François Pepin, Oana M Enache, Laura M Heiser, Eric A Collisson, Paul T Spellman and Joe W Gray
    Citation: Genome Medicine 2013 5:92
    Content type: Research Published on:

  17. Driven by high throughput next generation sequencing technologies and the pressing need to decipher cancer genomes, computational approaches for detecting somatic single nucleotide variants (sSNVs) have underg...

    Authors: Qingguo Wang, Peilin Jia, Fei Li, Haiquan Chen, Hongbin Ji, Donald Hucks, Kimberly Brown Dahlman, William Pao and Zhongming Zhao
    Citation: Genome Medicine 2013 5:91
    Content type: Research Published on:

  18. 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 2013 5:88
    Content type: Erratum Published on:

    The original article was published in Genome Medicine 2012 4:101

  20. Differentiating true somatic mutations from artifacts in massively parallel sequencing data is an immense challenge. To develop methods for optimal somatic mutation detection and to identify factors influencin...

    Authors: David L Goode, Sally M Hunter, Maria A Doyle, Tao Ma, Simone M Rowley, David Choong, Georgina L Ryland and Ian G Campbell
    Citation: Genome Medicine 2013 5:90
    Content type: Method Published on:

  21. Whole-exome sequencing provides a cost-effective means to sequence protein coding regions within the genome, which are significantly enriched for etiological variants. We describe a panel of single nucleotide ...

    Authors: Reuben J Pengelly, Jane Gibson, Gaia Andreoletti, Andrew Collins, Christopher J Mattocks and Sarah Ennis
    Citation: Genome Medicine 2013 5:89
    Content type: Method Published on:

    The Erratum to this article has been published in Genome Medicine 2015 7:44

  23. Acetaminophen (APAP) is a commonly used analgesic. However, its use is associated with drug-induced liver injury (DILI). It is a prominent cause of acute liver failure, with APAP hepatotoxicity far exceeding o...

    Authors: Jürgen Borlak, Bijon Chatterji, Kishor B Londhe and Paul B Watkins
    Citation: Genome Medicine 2013 5:86
    Content type: Research Published on:

  24. Biomarkers of drug-induced liver injury (DILI) are essential for the diagnosis of severe cases of DILI in clinical trials and clinical practice, but the currently used biomarker paradigm detects damage after i...

    Authors: Jiri Aubrecht, Shelli J Schomaker and David E Amacher
    Citation: Genome Medicine 2013 5:85
    Content type: Research highlight Published on:

  25. Development of the commercial genomics sector within the biotechnology industry relied heavily on the scientific commons, public funding, and technology transfer between academic and industrial research. This ...

    Authors: Ilse R Wiechers, Noah C Perin and Robert Cook-Deegan
    Citation: Genome Medicine 2013 5:83
    Content type: Research Published on:

  26. Traditional pathogen detection methods in public health infectious disease surveillance rely upon the identification of agents that are already known to be associated with a particular clinical syndrome. The e...

    Authors: Ruth R Miller, Vincent Montoya, Jennifer L Gardy, David M Patrick and Patrick Tang
    Citation: Genome Medicine 2013 5:81
    Content type: Review Published on:

  28. Strand-seq is a single-cell sequencing technique to finely map sister chromatid exchanges (SCEs) and other rearrangements. To analyze these data, we introduce BAIT, software which assigns templates and identif...

    Authors: Mark Hills, Kieran O’Neill, Ester Falconer, Ryan Brinkman and Peter M Lansdorp
    Citation: Genome Medicine 2013 5:82
    Content type: Software Published on:

  30. Pancreatic cancer is one of the most lethal and molecularly diverse malignancies. Repurposing of therapeutics that target specific molecular mechanisms in different disease types offers potential for rapid imp...

    Authors: Angela Chou, Nicola Waddell, Mark J Cowley, Anthony J Gill, David K Chang, Ann-Marie Patch, Katia Nones, Jianmin Wu, Mark Pinese, Amber L Johns, David K Miller, Karin S Kassahn, Adnan M Nagrial, Harpreet Wasan, David Goldstein, Christopher W Toon…
    Citation: Genome Medicine 2013 5:78
    Content type: Research Published on:

  31. The formalin-fixed, paraffin-embedded (FFPE) biopsy is a challenging sample for molecular assays such as targeted next-generation sequencing (NGS). We compared three methods for FFPE DNA quantification, includ...

    Authors: Sachin Sah, Liangjing Chen, Jeffrey Houghton, Jon Kemppainen, Adam C Marko, Robert Zeigler and Gary J Latham
    Citation: Genome Medicine 2013 5:77
    Content type: Method Published on:

  32. Single-cell functional proteomics assays can connect genomic information to biological function through quantitative and multiplex protein measurements. Tools for single-cell proteomics have developed rapidly ...

    Authors: Wei Wei, Young Shik Shin, Chao Ma, Jun Wang, Meltem Elitas, Rong Fan and James R Heath
    Citation: Genome Medicine 2013 5:75
    Content type: Review Published on:

  34. For cancer patients, the current approach to prognosis relies on clinicopathological staging, but usually this provides little information about the individual response to treatment. Therefore, there is a trem...

    Authors: Ellen Heitzer, Martina Auer, Peter Ulz, Jochen B Geigl and Michael R Speicher
    Citation: Genome Medicine 2013 5:73
    Content type: Review Published on:

  35. It is often assumed that rare genetic variants will improve available risk prediction scores. We aimed to estimate the added predictive ability of rare variants for risk prediction of common diseases in hypoth...

    Authors: Raluca Mihaescu, Michael J Pencina, Alvaro Alonso, Kathryn L Lunetta, Susan R Heckbert, Emelia J Benjamin and A Cecile JW Janssens
    Citation: Genome Medicine 2013 5:76
    Content type: Research Published on:

  37. Preimplantation genetic diagnosis (PGD) aims to help couples with heritable genetic disorders to avoid the birth of diseased offspring or the recurrence of loss of conception. Following in vitro fertilization, on...

    Authors: Niels Van der Aa, Masoud Zamani Esteki, Joris R Vermeesch and Thierry Voet
    Citation: Genome Medicine 2013 5:71
    Content type: Review Published on:

  39. With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that a...

    Authors: Verena Heinrich, Tom Kamphans, Jens Stange, Dmitri Parkhomchuk, Jochen Hecht, Thorsten Dickhaus, Peter N Robinson and Peter M Krawitz
    Citation: Genome Medicine 2013 5:69
    Content type: Method Published on:

  40. The microbial residents of the human gut are a major factor in the development and lifelong maintenance of health. The gut microbiota differs to a large degree from person to person and has an important influe...

    Authors: Daniela Börnigen, Xochitl C Morgan, Eric A Franzosa, Boyu Ren, Ramnik J Xavier, Wendy S Garrett and Curtis Huttenhower
    Citation: Genome Medicine 2013 5:65
    Content type: Review Published on:

  42. The mycobiome, referring primarily to the fungal biota in an environment, is an important component of the human microbiome. Despite its importance, it has remained understudied. New culture-independent approa...

    Authors: Lijia Cui, Alison Morris and Elodie Ghedin
    Citation: Genome Medicine 2013 5:63
    Content type: Review Published on:

  45. New strategies to combat complex human disease require systems approaches to biology that integrate experiments from cell lines, primary tissues and model organisms. We have developed Pathprint, a functional a...

    Authors: Gabriel M Altschuler, Oliver Hofmann, Irina Kalatskaya, Rebecca Payne, Shannan J Ho Sui, Uma Saxena, Andrei V Krivtsov, Scott A Armstrong, Tianxi Cai, Lincoln Stein and Winston A Hide
    Citation: Genome Medicine 2013 5:68
    Content type: Method Published on:

  46. Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian d...

    Authors: Kai Wang, Cecilia Kim, Jonathan Bradfield, Yunfei Guo, Elina Toskala, Frederick G Otieno, Cuiping Hou, Kelly Thomas, Christopher Cardinale, Gholson J Lyon, Ryan Golhar and Hakon Hakonarson
    Citation: Genome Medicine 2013 5:67
    Content type: Research Published on:

  49. Biological therapies have been introduced for the treatment of chronic inflammatory diseases including rheumatoid arthritis (RA) and Crohn's disease (CD). The efficacy of biologics differs from patient to pati...

    Authors: Bertalan Mesko, Szilard Poliska, Andrea Váncsa, Zoltan Szekanecz, Karoly Palatka, Zsolt Hollo, Attila Horvath, Laszlo Steiner, Gabor Zahuczky, Janos Podani and and Laszlo Nagy
    Citation: Genome Medicine 2013 5:59
    Content type: Research Published on:
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Genome Medicine

ISSN: 1756-994X

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