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  1. Content type: Research

    Genome-wide association studies are useful for discovering genotype–phenotype associations but are limited because they require large cohorts to identify a signal, which can be population-specific. Mapping gen...

    Authors: Assaf Gottlieb, Roxana Daneshjou, Marianne DeGorter, Stephane Bourgeois, Peter J. Svensson, Mia Wadelius, Panos Deloukas, Stephen B. Montgomery and Russ B. Altman

    Citation: Genome Medicine 2017 9:98

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  2. Content type: Research

    Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding o...

    Authors: Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J. Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris…

    Citation: Genome Medicine 2017 9:97

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  3. Content type: Comment

    Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk ...

    Authors: Cathryn M. Lewis and Evangelos Vassos

    Citation: Genome Medicine 2017 9:96

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  4. Content type: Research

    The ST313 sequence type of Salmonella Typhimurium causes invasive non-typhoidal salmonellosis and was thought to be confined to sub-Saharan Africa. Two distinct phylogenetic lineages of African ST313 have been id...

    Authors: Philip M. Ashton, Siân V. Owen, Lukeki Kaindama, Will P. M. Rowe, Chris R. Lane, Lesley Larkin, Satheesh Nair, Claire Jenkins, Elizabeth M. de Pinna, Nicholas A. Feasey, Jay C. D. Hinton and Timothy J. Dallman

    Citation: Genome Medicine 2017 9:92

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  5. Content type: Research

    Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformat...

    Authors: Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny…

    Citation: Genome Medicine 2017 9:95

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  6. Content type: Research

    Intertumoral heterogeneity represents a significant hurdle to identifying optimized targeted therapies in gastric cancer (GC). To realize precision medicine for GC patients, an actionable gene alteration-based...

    Authors: Hiroshi Ichikawa, Masayuki Nagahashi, Yoshifumi Shimada, Takaaki Hanyu, Takashi Ishikawa, Hitoshi Kameyama, Takashi Kobayashi, Jun Sakata, Hiroshi Yabusaki, Satoru Nakagawa, Nobuaki Sato, Yuki Hirata, Yuko Kitagawa, Toshiyuki Tanahashi, Kazuhiro Yoshida, Ryota Nakanishi…

    Citation: Genome Medicine 2017 9:93

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  7. Content type: Research

    Next-generation sequencing (NGS) of cancer gene panels are widely applied to enable personalized cancer therapy and to identify novel oncogenic mutations.

    Authors: Shuyu D. Li, Meng Ma, Hui Li, Aneta Waluszko, Tatyana Sidorenko, Eric E. Schadt, David Y. Zhang, Rong Chen and Fei Ye

    Citation: Genome Medicine 2017 9:89

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  8. Content type: Research

    The Wiskott–Aldrich syndrome protein (WASp) family of actin-nucleating factors are present in the cytoplasm and in the nucleus. The role of nuclear WASp for T cell development remains incompletely defined.

    Authors: Nikolai V. Kuznetsov, Bader Almuzzaini, Joanna S. Kritikou, Marisa A. P. Baptista, Mariana M. S. Oliveira, Marton Keszei, Scott B. Snapper, Piergiorgio Percipalle and Lisa S. Westerberg

    Citation: Genome Medicine 2017 9:91

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  9. Content type: Research

    Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability o...

    Authors: Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson and Eric Vilain

    Citation: Genome Medicine 2017 9:90

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  10. Content type: Software

    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...

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

    Citation: Genome Medicine 2017 9:86

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  11. Content type: Comment

    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...

    Authors: 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…

    Citation: Genome Medicine 2017 9:85

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  12. Content type: Correspondence

    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...

    Authors: 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…

    Citation: Genome Medicine 2017 9:84

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  13. Content type: Research

    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 ...

    Authors: 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…

    Citation: Genome Medicine 2017 9:83

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  14. Content type: Research

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

    Authors: 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

    Citation: Genome Medicine 2017 9:81

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  15. Content type: Research

    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...

    Authors: 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

    Citation: Genome Medicine 2017 9:78

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  16. Content type: Method

    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...

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

    Citation: Genome Medicine 2017 9:80

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  17. Content type: Research

    Several articles suggest that DNA methylation levels in blood relate to Parkinson’s disease (PD) but there is a need for a large-scale study that involves suitable population based controls. The purposes of th...

    Authors: Yu-Hsuan Chuang, Kimberly C. Paul, Jeff M. Bronstein, Yvette Bordelon, Steve Horvath and Beate Ritz

    Citation: Genome Medicine 2017 9:76

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  18. Content type: Review

    RNA sequencing (RNA-seq) is a genomic approach for the detection and quantitative analysis of messenger RNA molecules in a biological sample and is useful for studying cellular responses. RNA-seq has fueled mu...

    Authors: Ashraful Haque, Jessica Engel, Sarah A. Teichmann and Tapio Lönnberg

    Citation: Genome Medicine 2017 9:75

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  19. Content type: Comment

    Advances in molecular tools to characterize the microbiome have led to the discovery of unique roles for microbes in human disease. Findings that the female genital microbiome can influence HIV acquisition and...

    Authors: Lenine J. P. Liebenberg, Derseree Archary, Aida Sivro and Douglas S. Kwon

    Citation: Genome Medicine 2017 9:74

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