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  1. Software

    HLAProfiler utilizes k-mer profiles to improve HLA calling accuracy for rare and common alleles in RNA-seq data

    The human leukocyte antigen (HLA) system is a genomic region involved in regulating the human immune system by encoding cell membrane major histocompatibility complex (MHC) proteins that are responsible for se...

    Martin L. Buchkovich, Chad C. Brown, Kimberly Robasky, Shengjie Chai, Sharon Westfall, Benjamin G. Vincent, Eric T. Weimer and Jason G. Powers

    Genome Medicine 2017 9:86

    Published on: 27 September 2017

  2. Comment

    Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic

    Genome editing using clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated proteins offers the potential to facilitate safe and effective treatment of genetic diseases refra...

    Dianne Nicol, Lisa Eckstein, Michael Morrison, Jacob S. Sherkow, Margaret Otlowski, Tess Whitton, Tania Bubela, Kathryn P. Burdon, Don Chalmers, Sarah Chan, Jac Charlesworth, Christine Critchley, Merlin Crossley, Sheryl de Lacey, Joanne L. Dickinson, Alex W. Hewitt…

    Genome Medicine 2017 9:85

    Published on: 25 September 2017

  3. Correspondence

    Creating a data resource: what will it take to build a medical information commons?

    National and international public–private partnerships, consortia, and government initiatives are underway to collect and share genomic, personal, and healthcare data on a massive scale. Ideally, these efforts...

    Patricia A. Deverka, Mary A. Majumder, Angela G. Villanueva, Margaret Anderson, Annette C. Bakker, Jessica Bardill, Eric Boerwinkle, Tania Bubela, Barbara J. Evans, Nanibaa’ A. Garrison, Richard A. Gibbs, Robert Gentleman, David Glazer, Melissa M. Goldstein, Hank Greely, Crane Harris…

    Genome Medicine 2017 9:84

    Published on: 22 September 2017

  4. Research

    Identification of novel candidate disease genes from de novo exonic copy number variants

    Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular ...

    Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering…

    Genome Medicine 2017 9:83

    Published on: 21 September 2017

  5. Comment

    Genetic and epigenetic studies of adiposity and cardiometabolic disease

    Over 300 million adults are obese, but little is known about the impact of obesity on cardiovascular health. We discuss recent genetic and epigenetic studies of adiposity that indicate a causal role for genera...

    Michael V. Holmes, Sara L. Pulit and Cecilia M. Lindgren

    Genome Medicine 2017 9:82

    Published on: 18 September 2017

  6. Research

    Whole genome sequencing of ESBL-producing Escherichia coli isolated from patients, farm waste and canals in Thailand

    Tackling multidrug-resistant Escherichia coli requires evidence from One Health studies that capture numerous potential reservoirs in circumscribed geographic areas.

    Chakkaphan Runcharoen, Kathy E. Raven, Sandra Reuter, Teemu Kallonen, Suporn Paksanont, Jeeranan Thammachote, Suthatip Anun, Beth Blane, Julian Parkhill, Sharon J. Peacock and Narisara Chantratita

    Genome Medicine 2017 9:81

    Published on: 6 September 2017

  7. Research

    The neoepitope landscape in pediatric cancers

    Neoepitopes derived from tumor-specific somatic mutations are promising targets for immunotherapy in childhood cancers. However, the potential for such therapies in targeting these epitopes remains uncertain d...

    Ti-Cheng Chang, Robert A. Carter, Yongjin Li, Yuxin Li, Hong Wang, Michael N. Edmonson, Xiang Chen, Paula Arnold, Terrence L. Geiger, Gang Wu, Junmin Peng, Michael Dyer, James R. Downing, Douglas R. Green, Paul G. Thomas and Jinghui Zhang

    Genome Medicine 2017 9:78

    Published on: 31 August 2017

  8. Method

    Identification of cis-regulatory mutations generating de novo edges in personalized cancer gene regulatory networks

    The identification of functional non-coding mutations is a key challenge in the field of genomics. Here we introduce μ-cisTarget to filter, annotate and prioritize cis-regulatory mutations based on their putative...

    Zeynep Kalender Atak, Hana Imrichova, Dmitry Svetlichnyy, Gert Hulselmans, Valerie Christiaens, Joke Reumers, Hugo Ceulemans and Stein Aerts

    Genome Medicine 2017 9:80

    Published on: 30 August 2017

  9. Research

    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

    De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to ...

    Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz…

    Genome Medicine 2017 9:73

    Published on: 14 August 2017

  10. Research

    Post-mortem molecular profiling of three psychiatric disorders

    Psychiatric disorders are multigenic diseases with complex etiology that contribute significantly to human morbidity and mortality. Although clinically distinct, several disorders share many symptoms, suggesti...

    Ryne C. Ramaker, Kevin M. Bowling, Brittany N. Lasseigne, Megan H. Hagenauer, Andrew A. Hardigan, Nicholas S. Davis, Jason Gertz, Preston M. Cartagena, David M. Walsh, Marquis P. Vawter, Edward G. Jones, Alan F. Schatzberg, Jack D. Barchas, Stanley J. Watson, Blynn G. Bunney, Huda Akil…

    Genome Medicine 2017 9:72

    Published on: 28 July 2017

  11. Research

    Longitudinal genomic surveillance of multidrug-resistant Escherichia coli carriage in a long-term care facility in the United Kingdom

    Residents of long-term care facilities (LTCF) may have high carriage rates of multidrug-resistant pathogens, but are not currently included in surveillance programmes for antimicrobial resistance or healthcare...

    Hayley J. Brodrick, Kathy E. Raven, Teemu Kallonen, Dorota Jamrozy, Beth Blane, Nicholas M. Brown, Veronique Martin, M. Estée Török, Julian Parkhill and Sharon J. Peacock

    Genome Medicine 2017 9:70

    Published on: 25 July 2017

  12. Research

    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

    Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.

    Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone…

    Genome Medicine 2017 9:67

    Published on: 19 July 2017

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