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Ten years of Genome Medicine

  2. Malignant peritoneal mesothelioma (PeM) is a rare and fatal cancer that originates from the peritoneal lining of the abdomen. Standard treatment of PeM is limited to cytoreductive surgery and/or chemotherapy, ...

    Authors: Raunak Shrestha, Noushin Nabavi, Yen-Yi Lin, Fan Mo, Shawn Anderson, Stanislav Volik, Hans H. Adomat, Dong Lin, Hui Xue, Xin Dong, Robert Shukin, Robert H. Bell, Brian McConeghy, Anne Haegert, Sonal Brahmbhatt, Estelle Li…
    Citation: Genome Medicine 2019 11:8
    Content type: Research Published on:

    The Research Highlight to this article has been published in Genome Medicine 2019 11:18

  4. While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we present the Cancer Genome Inte...

    Authors: David Tamborero, Carlota Rubio-Perez, Jordi Deu-Pons, Michael P. Schroeder, Ana Vivancos, Ana Rovira, Ignasi Tusquets, Joan Albanell, Jordi Rodon, Josep Tabernero, Carmen de Torres, Rodrigo Dienstmann, Abel Gonzalez-Perez and Nuria Lopez-Bigas
    Citation: Genome Medicine 2018 10:25
    Content type: Database Published on:

  5. Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (...

    Authors: Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M. Huckins, Ana B. Munoz-Manchado, Douglas M. Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B. Smit, Jens Hjerling-Leffler, Joseph D. Buxbaum…
    Citation: Genome Medicine 2017 9:114
    Content type: Research Published on:

  6. While age and the APOE ε4 allele are major risk factors for Alzheimer’s disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without ...

    Authors: Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy…
    Citation: Genome Medicine 2017 9:100
    Content type: Research Published on:

    The Correction to this article has been published in Genome Medicine 2018 10:4

  8. The clinical utility of molecular profiling of tumor tissue to guide treatment of patients with advanced solid tumors is unknown. Our objectives were to evaluate the frequency of genomic alterations, clinical ...

    Authors: Tracy L. Stockley, Amit M. Oza, Hal K. Berman, Natasha B. Leighl, Jennifer J. Knox, Frances A. Shepherd, Eric X. Chen, Monika K. Krzyzanowska, Neesha Dhani, Anthony M. Joshua, Ming-Sound Tsao, Stefano Serra, Blaise Clarke, Michael H. Roehrl, Tong Zhang, Mahadeo A. Sukhai…
    Citation: Genome Medicine 2016 8:109
    Content type: Research Published on:

  9. Emerging evidence suggests that the in utero environment is not sterile as once presumed. Work in the mouse demonstrated transmission of commensal bacteria from mother to fetus during gestation, though it is uncl...

    Authors: Derrick M. Chu, Kathleen M. Antony, Jun Ma, Amanda L. Prince, Lori Showalter, Michelle Moller and Kjersti M. Aagaard
    Citation: Genome Medicine 2016 8:77
    Content type: Research Published on:

  10. The effects of probiotic supplementation on fecal microbiota composition in healthy adults have not been well established. We aimed to provide a systematic review of the potential evidence for an effect of pro...

    Authors: Nadja B. Kristensen, Thomas Bryrup, Kristine H. Allin, Trine Nielsen, Tue H. Hansen and Oluf Pedersen
    Citation: Genome Medicine 2016 8:52
    Content type: Research Published on:

  12. Cancer immunotherapy has gained significant momentum from recent clinical successes of checkpoint blockade inhibition. Massively parallel sequence analysis suggests a connection between mutational load and res...

    Authors: Jasreet Hundal, Beatriz M. Carreno, Allegra A. Petti, Gerald P. Linette, Obi L. Griffith, Elaine R. Mardis and Malachi Griffith
    Citation: Genome Medicine 2016 8:11
    Content type: Method Published on:

  13. 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:

  14. 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:

  15. Mycobacterium tuberculosis drug resistance (DR) challenges effective tuberculosis disease control. Current molecular tests examine limited numbers of mutations, and although whole genome sequenci...

    Authors: Francesc Coll, Ruth McNerney, Mark D Preston, José Afonso Guerra-Assunção, Andrew Warry, Grant Hill-Cawthorne, Kim Mallard, Mridul Nair, Anabela Miranda, Adriana Alves, João Perdigão, Miguel Viveiros, Isabel Portugal, Zahra Hasan, Rumina Hasan, Judith R Glynn…
    Citation: Genome Medicine 2015 7:51
    Content type: Method Published on:

  16. Human genetics and host-associated microbial communities have been associated independently with a wide range of chronic diseases. One of the strongest associations in each case is inflammatory bowel disease (...

    Authors: Dan Knights, Mark S Silverberg, Rinse K Weersma, Dirk Gevers, Gerard Dijkstra, Hailiang Huang, Andrea D Tyler, Suzanne van Sommeren, Floris Imhann, Joanne M Stempak, Hu Huang, Pajau Vangay, Gabriel A Al-Ghalith, Caitlin Russell, Jenny Sauk, Jo Knight…
    Citation: Genome Medicine 2014 6:107
    Content type: Research Published on:

  17. The debate regarding the relative merits of whole genome sequencing (WGS) versus exome sequencing (ES) centers around comparative cost, average depth of coverage for each interrogated base, and their relative ...

    Authors: James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, Matthew N Bainbridge, Shalini Jhangiani, Christian J Buhay, Christie L Kovar, Min Wang, Alicia C Hawes, Jeffrey G Reid, Christine Eng, Donna M Muzny and Richard A Gibbs
    Citation: Genome Medicine 2013 5:57
    Content type: Research Published on:

  18. Patients with prostate cancer may present with metastatic or recurrent disease despite initial curative treatment. The propensity of metastatic prostate cancer to spread to the bone has limited repeated sampli...

    Authors: Ellen Heitzer, Peter Ulz, Jelena Belic, Stefan Gutschi, Franz Quehenberger, Katja Fischereder, Theresa Benezeder, Martina Auer, Carina Pischler, Sebastian Mannweiler, Martin Pichler, Florian Eisner, Martin Haeusler, Sabine Riethdorf, Klaus Pantel, Hellmut Samonigg…
    Citation: Genome Medicine 2013 5:30
    Content type: Research Published on:

  19. Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in gen...

    Authors: Flora Tassone, Ka Pou Iong, Tzu-Han Tong, Joyce Lo, Louise W Gane, Elizabeth Berry-Kravis, Danh Nguyen, Lisa Y Mu, Jennifer Laffin, Don B Bailey and Randi J Hagerman
    Citation: Genome Medicine 2012 4:100
    Content type: Research Published on:

  21. Skeletal muscle insulin resistance (IR) is considered a critical component of type II diabetes, yet to date IR has evaded characterization at the global gene expression level in humans. MicroRNAs (miRNAs) are ...

    Authors: Iain J Gallagher, Camilla Scheele, Pernille Keller, Anders R Nielsen, Judit Remenyi, Christian P Fischer, Karim Roder, John Babraj, Claes Wahlestedt, Gyorgy Hutvagner, Bente K Pedersen and James A Timmons
    Citation: Genome Medicine 2010 2:9
    Content type: Research Published on:

  22. The Human Gene Mutation Database (HGMD®) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of t...

    Authors: Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick ST Thomas and David N Cooper
    Citation: Genome Medicine 2009 1:13
    Content type: Correspondence Published on: