Skip to main content

Articles

Page 20 of 38

  1. Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disease of the gastrointestinal tract which includes ulcerative colitis and Crohn's disease. Genetic risk factors for IBD are not well unde...

    Authors: Shinichi Takahashi, Gaia Andreoletti, Rui Chen, Yoichi Munehira, Akshay Batra, Nadeem A. Afzal, R. Mark Beattie, Jonathan A. Bernstein, Sarah Ennis and Michael Snyder
    Citation: Genome Medicine 2017 9:8
    Content type: Research Published on:

  2. Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinica...

    Authors: Jennifer L. Yen, Sarah Garcia, Aldrin Montana, Jason Harris, Stephen Chervitz, Massimo Morra, John West, Richard Chen and Deanna M. Church
    Citation: Genome Medicine 2017 9:7
    Content type: Research Published on:

  3. Klebsiella pneumoniae is a gram-negative bacterial species capable of occupying a broad range of environmental and clinical habitats. Known as an opportunistic pathogen, it has recentl...

    Authors: Chakkaphan Runcharoen, Danesh Moradigaravand, Beth Blane, Suporn Paksanont, Jeeranan Thammachote, Suthatip Anun, Julian Parkhill, Narisara Chantratita and Sharon J. Peacock
    Citation: Genome Medicine 2017 9:6
    Content type: Research Published on:

  4. As public health interventions drive parasite populations to elimination, genetic epidemiology models that incorporate population genomics can be powerful tools for evaluating the effectiveness of continued in...

    Authors: Wesley Wong, Allison D. Griggs, Rachel F. Daniels, Stephen F. Schaffner, Daouda Ndiaye, Amy K. Bei, Awa B. Deme, Bronwyn MacInnis, Sarah K. Volkman, Daniel L. Hartl, Daniel E. Neafsey and Dyann F. Wirth
    Citation: Genome Medicine 2017 9:5
    Content type: Research Published on:

  5. Many mutations in cancer are of unknown functional significance. Standard methods use statistically significant recurrence of mutations in tumor samples as an indicator of functional impact. We extend such ana...

    Authors: Jianjiong Gao, Matthew T. Chang, Hannah C. Johnsen, Sizhi Paul Gao, Brooke E. Sylvester, Selcuk Onur Sumer, Hongxin Zhang, David B. Solit, Barry S. Taylor, Nikolaus Schultz and Chris Sander
    Citation: Genome Medicine 2017 9:4
    Content type: Method Published on:

  6. The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through p...

    Authors: Ronak Y. Patel, Neethu Shah, Andrew R. Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron Baker, Kevin Riehle, Hailin Chen, Sofia Milosavljevic, Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison…
    Citation: Genome Medicine 2017 9:3
    Content type: Software Published on:

  9. Molecular characterization has the potential to advance the management of pediatric cancer and high-risk hematologic disease. The clinical integration of genome sequencing into standard clinical practice has b...

    Authors: Jennifer A. Oberg, Julia L. Glade Bender, Maria Luisa Sulis, Danielle Pendrick, Anthony N. Sireci, Susan J. Hsiao, Andrew T. Turk, Filemon S. Dela Cruz, Hanina Hibshoosh, Helen Remotti, Rebecca J. Zylber, Jiuhong Pang, Daniel Diolaiti, Carrie Koval, Stuart J. Andrews, James H. Garvin…
    Citation: Genome Medicine 2016 8:133
    Content type: Research Published on:

  10. Comprehensive genomic sequencing (CGS) has the potential to revolutionize precision medicine for cancer patients across the globe. However, to date large-scale genomic sequencing of cancer patients has been li...

    Authors: Masayuki Nagahashi, Toshifumi Wakai, Yoshifumi Shimada, Hiroshi Ichikawa, Hitoshi Kameyama, Takashi Kobayashi, Jun Sakata, Ryoma Yagi, Nobuaki Sato, Yuko Kitagawa, Hiroyuki Uetake, Kazuhiro Yoshida, Eiji Oki, Shin-ei Kudo, Hiroshi Izutsu, Keisuke Kodama…
    Citation: Genome Medicine 2016 8:136
    Content type: Research Published on:

  11. Cancer results from the acquisition of somatic driver mutations. Several computational tools can predict driver genes from population-scale genomic data, but tools for analyzing personal cancer genomes are und...

    Authors: Chengliang Dong, Yunfei Guo, Hui Yang, Zeyu He, Xiaoming Liu and Kai Wang
    Citation: Genome Medicine 2016 8:135
    Content type: Method Published on:

  12. The emergence of resistance to anti-tuberculosis drugs is a serious and growing threat to public health. Next-generation sequencing is rapidly gaining traction as a diagnostic tool for investigating drug resis...

    Authors: Jody Phelan, Denise M. O’Sullivan, Diana Machado, Jorge Ramos, Alexandra S. Whale, Justin O’Grady, Keertan Dheda, Susana Campino, Ruth McNerney, Miguel Viveiros, Jim F. Huggett and Taane G. Clark
    Citation: Genome Medicine 2016 8:132
    Content type: Research Published on:

  14. Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptio...

    Authors: Servi J. C. Stevens, Anthonie J. van Essen, Conny M. A. van Ravenswaaij, Abdallah F. Elias, Jaclyn A. Haven, Stefan H. Lelieveld, Rolph Pfundt, Willy M. Nillesen, Helger G. Yntema, Kees van Roozendaal, Alexander P. Stegmann, Christian Gilissen and Han G. Brunner
    Citation: Genome Medicine 2016 8:131
    Content type: Research Published on:

  15. The last two human genome assemblies have extended the previous linear golden-path paradigm of the human genome to a graph-like model to better represent regions with a high degree of structural variability. T...

    Authors: Marten Jäger, Max Schubach, Tomasz Zemojtel, Knut Reinert, Deanna M. Church and Peter N. Robinson
    Citation: Genome Medicine 2016 8:130
    Content type: Research Published on:

  16. Biological interpretation of genomic summary data such as those resulting from genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is one of the major bottlenecks in me...

    Authors: Hai Fang, Bogdan Knezevic, Katie L. Burnham and Julian C. Knight
    Citation: Genome Medicine 2016 8:129
    Content type: Software Published on:

  17. Estrogen receptor (ER) activity is critical for the development and progression of the majority of breast cancers. It is known that ER is differentially bound to DNA leading to transcriptomic and phenotypic ch...

    Authors: Amir Bahreini, Kevin Levine, Lucas Santana-Santos, Panayiotis V. Benos, Peilu Wang, Courtney Andersen, Steffi Oesterreich and Adrian V. Lee
    Citation: Genome Medicine 2016 8:128
    Content type: Research Published on:

  18. Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from t...

    Authors: Martin I. Sigurdsson, Louis Saddic, Mahyar Heydarpour, Tzuu-Wang Chang, Prem Shekar, Sary Aranki, Gregory S. Couper, Stanton K. Shernan, Jon G. Seidman, Simon C. Body and Jochen D. Muehlschlegel
    Citation: Genome Medicine 2016 8:127
    Content type: Research Published on:

  20. Combinations of therapies are being actively pursued to expand therapeutic options and deal with cancer’s pervasive resistance to treatment. Research efforts to discover effective combination treatments have f...

    Authors: Jonathan R. Dry, Mi Yang and Julio Saez-Rodriguez
    Citation: Genome Medicine 2016 8:125
    Content type: Opinion Published on:

  21. Endometrial cancer studies have led to a number of well-defined but mechanistically unconnected genetic and environmental risk factors. One of the emerging modulators between environmental triggers and genetic...

    Authors: Marina R. S. Walther-António, Jun Chen, Francesco Multinu, Alexis Hokenstad, Tammy J. Distad, E. Heidi Cheek, Gary L. Keeney, Douglas J. Creedon, Heidi Nelson, Andrea Mariani and Nicholas Chia
    Citation: Genome Medicine 2016 8:122
    Content type: Research Published on:

  22. Twin studies are powerful models to elucidate epigenetic modifications resulting from gene–environment interactions. Yet, commonly a limited number of clinical twin samples are available, leading to an underpo...

    Authors: David Gomez-Cabrero, Malin Almgren, Louise K. Sjöholm, Aase H. Hensvold, Mikael V. Ringh, Rakel Tryggvadottir, Juha Kere, Annika Scheynius, Nathalie Acevedo, Lovisa Reinius, Margaret A. Taub, Carolina Montano, Martin J. Aryee, Jason I. Feinberg, Andrew P. Feinberg, Jesper Tegnér…
    Citation: Genome Medicine 2016 8:124
    Content type: Research Published on:

  23. Authors: Thuy Doan, Michael R. Wilson, Emily D. Crawford, Eric D. Chow, Lillian M. Khan, Kristeene A. Knopp, Brian D. O’Donovan, Dongxiang Xia, Jill K. Hacker, Jay M. Stewart, John A. Gonzales, Nisha R. Acharya and Joseph L. DeRisi
    Citation: Genome Medicine 2016 8:123
    Content type: Erratum Published on:

    The original article was published in Genome Medicine 2016 8:90

  24. Unlocking clinically translatable genomic information, including copy number alterations (CNA), from formalin-fixed paraffin-embedded (FFPE) tissue is challenging due to low yields and degraded DNA. We describ...

    Authors: Tanjina Kader, David L. Goode, Stephen Q. Wong, Jacquie Connaughton, Simone M. Rowley, Lisa Devereux, David Byrne, Stephen B. Fox, Gisela Mir Arnau, Richard W. Tothill, Ian G. Campbell and Kylie L. Gorringe
    Citation: Genome Medicine 2016 8:121
    Content type: Method Published on:

  26. Efflux transporters like MDR1 and MRP2 may modulate the pharmacokinetics of about 50 % of all drugs. It is currently unknown how much of the variation in the activities of important drug membrane transporters ...

    Authors: Johannes Matthaei, Mladen V. Tzvetkov, Valerie Gal, Cordula Sachse-Seeboth, Daniel Sehrt, Jakob B. Hjelmborg, Ute Hofmann, Matthias Schwab, Reinhold Kerb and Jürgen Brockmöller
    Citation: Genome Medicine 2016 8:119
    Content type: Research Published on:

  27. Authors: Charles Auffray, Rudi Balling, Inês Barroso, László Bencze, Mikael Benson, Jay Bergeron, Enrique Bernal-Delgado, Niklas Blomberg, Christoph Bock, Ana Conesa, Susanna Del Signore, Christophe Delogne, Peter Devilee, Alberto Di Meglio, Marinus Eijkemans, Paul Flicek…
    Citation: Genome Medicine 2016 8:118
    Content type: Erratum Published on:

    The original article was published in Genome Medicine 2016 8:71

  28. To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (C...

    Authors: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon…
    Citation: Genome Medicine 2016 8:117
    Content type: Research Published on:

  29. Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial...

    Authors: Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang…
    Citation: Genome Medicine 2016 8:106
    Content type: Research Published on:

  30. Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep ...

    Authors: Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw…
    Citation: Genome Medicine 2016 8:105
    Content type: Research Published on:

  31. Alzheimer’s disease (AD) is the most common form of dementia, characterized by progressive cognitive impairment and neurodegeneration. However, despite extensive clinical and genomic studies, the molecular bas...

    Authors: Minghui Wang, Panos Roussos, Andrew McKenzie, Xianxiao Zhou, Yuji Kajiwara, Kristen J. Brennand, Gabriele C. De Luca, John F. Crary, Patrizia Casaccia, Joseph D. Buxbaum, Michelle Ehrlich, Sam Gandy, Alison Goate, Pavel Katsel, Eric Schadt, Vahram Haroutunian…
    Citation: Genome Medicine 2016 8:104
    Content type: Research Published on:

  32. Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular charact...

    Authors: Filemon S. Dela Cruz, Daniel Diolaiti, Andrew T. Turk, Allison R. Rainey, Alberto Ambesi-Impiombato, Stuart J. Andrews, Mahesh M. Mansukhani, Peter L. Nagy, Mariano J. Alvarez, Andrea Califano, Farhad Forouhar, Beata Modzelewski, Chelsey M. Mitchell, Darrell J. Yamashiro, Lianna J. Marks, Julia L. Glade Bender…
    Citation: Genome Medicine 2016 8:116
    Content type: Research Published on:

  34. Homologous recombination (HR) is the primary pathway for repairing double-strand DNA breaks implicating in the development of cancer. RNAi-based knockdowns of BRCA1 and RAD51 in this pathway have been performed t...

    Authors: Yue Wang, Kenneth M. K. Mark, Matthew H. Ung, Arminja Kettenbach, Todd Miller, Wei Xu, Wenqing Cheng, Tian Xia and Chao Cheng
    Citation: Genome Medicine 2016 8:114
    Content type: Method Published on:

  35. The rise of genomically targeted therapies and immunotherapy has revolutionized the practice of oncology in the last 10–15 years. At the same time, new technologies and the electronic health record (EHR) in pa...

    Authors: Jeremy L. Warner, Sandeep K. Jain and Mia A. Levy
    Citation: Genome Medicine 2016 8:113
    Content type: Review Published on:

  39. 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:

  40. Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make P...

    Authors: Gabrielle Bertier, Jian Carrot-Zhang, Vassilis Ragoussis and Yann Joly
    Citation: Genome Medicine 2016 8:108
    Content type: Opinion Published on:

  41. In high-grade serous ovarian cancer (HGSOC), intrinsic and/or acquired resistance against platinum-containing chemotherapy is a major obstacle for successful treatment. A low frequency of somatic mutations but...

    Authors: Tushar Tomar, Steven de Jong, Nicolette G. Alkema, Rieks L. Hoekman, Gert Jan Meersma, Harry G. Klip, Ate GJ van der Zee and G. Bea A. Wisman
    Citation: Genome Medicine 2016 8:107
    Content type: Research Published on:

  42. Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying bio...

    Authors: Eric Q. Konnick and Colin C. Pritchard
    Citation: Genome Medicine 2016 8:100
    Content type: Comment Published on:

  43. Nutritional interventions often fail to prevent growth failure in childhood and adolescent malnutrition and the mechanisms remain unclear. Recent studies revealed altered microbiota in malnourished children an...

    Authors: Jun Chen, Yoshitaka Toyomasu, Yujiro Hayashi, David R. Linden, Joseph H. Szurszewski, Heidi Nelson, Gianrico Farrugia, Purna C. Kashyap, Nicholas Chia and Tamas Ordog
    Citation: Genome Medicine 2016 8:103
    Content type: Research Published on:

  44. Long-term care facilities (LTCF) are potential reservoirs for methicillin-resistant Staphylococcus aureus (MRSA), control of which may reduce MRSA transmission and infection elsewhere in the healthcare system. Wh...

    Authors: Ewan M. Harrison, Catherine Ludden, Hayley J. Brodrick, Beth Blane, Gráinne Brennan, Dearbháile Morris, Francesc Coll, Sandra Reuter, Nicholas M. Brown, Mark A. Holmes, Brian O’Connell, Julian Parkhill, M. Estee Török, Martin Cormican and Sharon J. Peacock
    Citation: Genome Medicine 2016 8:102
    Content type: Research Published on:

  45. Profiling the somatic mutations of genes which may inform about tumor evolution, prognostics and treatment is becoming a standard tool in clinical oncology. Commercially available cancer gene panels rely on ma...

    Authors: Carlota Rubio-Perez, Jordi Deu-Pons, David Tamborero, Nuria Lopez-Bigas and Abel Gonzalez-Perez
    Citation: Genome Medicine 2016 8:98
    Content type: Software Published on:

  46. The genetic regulation of metabolic phenotypes (i.e., metabotypes) in type 2 diabetes mellitus occurs through complex organ-specific cellular mechanisms and networks contributing to impaired insulin secretion ...

    Authors: Marc-Emmanuel Dumas, Céline Domange, Sophie Calderari, Andrea Rodríguez Martínez, Rafael Ayala, Steven P. Wilder, Nicolas Suárez-Zamorano, Stephan C. Collins, Robert H. Wallis, Quan Gu, Yulan Wang, Christophe Hue, Georg W. Otto, Karène Argoud, Vincent Navratil, Steve C. Mitchell…
    Citation: Genome Medicine 2016 8:101
    Content type: Research Published on:

  47. Killer cell immunoglobulin-like receptors (KIRs), expressed on natural killer cells and T cells, have considerable biomedical relevance playing significant roles in immunity, pregnancy and transplantation. The KI...

    Authors: W. Jiang, C. Johnson, N. Simecek, M. R. López-Álvarez, D. Di, J. Trowsdale and J. A. Traherne
    Citation: Genome Medicine 2016 8:99
    Content type: Method Published on:

  48. The World Health Organization has declared Zika virus an international public health emergency. Knowledge of Zika virus genomic epidemiology is currently limited due to challenges in obtaining and processing s...

    Authors: Nuno Rodrigues Faria, Ester C. Sabino, Marcio R. T. Nunes, Luiz Carlos Junior Alcantara, Nicholas J. Loman and Oliver G. Pybus
    Citation: Genome Medicine 2016 8:97
    Content type: Comment 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