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  1. Content type: Research

    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

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  2. Content type: Opinion

    The translation of personal genomics to precision medicine depends on the accurate interpretation of the multitude of genetic variants observed for each individual. However, even when genetic variants are pred...

    Authors: Gustavo Glusman, Peter W. Rose, Andreas Prlić, Jennifer Dougherty, José M. Duarte, Andrew S. Hoffman, Geoffrey J. Barton, Emøke Bendixen, Timothy Bergquist, Christian Bock, Elizabeth Brunk, Marija Buljan, Stephen K. Burley, Binghuang Cai, Hannah Carter, JianJiong Gao…

    Citation: Genome Medicine 2017 9:113

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  3. Content type: Research Highlight

    Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP)....

    Authors: Lora J. H. Bean and Madhuri R. Hegde

    Citation: Genome Medicine 2017 9:111

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  4. Content type: Q&A

    Peter M. Visscher discusses advances in our understanding of complex disease, the challenges in applying this knowledge to functional follow-up, and the potential implications for therapeutic interventions.

    Authors: Peter M. Visscher

    Citation: Genome Medicine 2017 9:112

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  5. Content type: Research Highlight

    Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neuro...

    Authors: Matthew Jensen and Santhosh Girirajan

    Citation: Genome Medicine 2017 9:109

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    The Research to this article has been published in Genome Medicine 2017 9:106

  6. Content type: Comment

    Antibiotics have become the standard of care for bacterial infections. However, rising rates of antibiotic-resistant infections are outpacing the development of new antimicrobials. Broad-spectrum antibiotics a...

    Authors: Alexandra E. Paharik, Henry L. Schreiber IV, Caitlin N. Spaulding, Karen W. Dodson and Scott J. Hultgren

    Citation: Genome Medicine 2017 9:110

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  7. Content type: Software

    Single-cell RNA sequencing (scRNA-Seq) is an increasingly popular platform to study heterogeneity at the single-cell level. Computational methods to process scRNA-Seq data are not very accessible to bench scie...

    Authors: Xun Zhu, Thomas K. Wolfgruber, Austin Tasato, Cédric Arisdakessian, David G. Garmire and Lana X. Garmire

    Citation: Genome Medicine 2017 9:108

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  8. Content type: Research

    Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the l...

    Authors: Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer and Anne S. Bassett

    Citation: Genome Medicine 2017 9:105

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  9. Content type: Research

    Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared gene...

    Authors: Joseph T. Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E. Gur, Nadine Cohen, Patrick M. A. Sleiman, Qingqin Li and Hakon Hakonarson

    Citation: Genome Medicine 2017 9:106

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    The Research Highlight to this article has been published in Genome Medicine 2017 9:109

  10. Content type: Research

    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

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

  11. Content type: Research

    Inflammatory bowel disease (IBD) is characterized by chronic inflammation of the gastrointestinal tract that is associated with changes in the gut microbiome. Here, we sought to identify strain-specific functi...

    Authors: Andrew Brantley Hall, Moran Yassour, Jenny Sauk, Ashley Garner, Xiaofang Jiang, Timothy Arthur, Georgia K. Lagoudas, Tommi Vatanen, Nadine Fornelos, Robin Wilson, Madeline Bertha, Melissa Cohen, John Garber, Hamed Khalili, Dirk Gevers, Ashwin N. Ananthakrishnan…

    Citation: Genome Medicine 2017 9:103

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  12. Content type: Research

    Establishing the cancer type and site of origin is important in determining the most appropriate course of treatment for cancer patients. Patients with cancer of unknown primary, where the site of origin canno...

    Authors: Kee Pang Soh, Ewa Szczurek, Thomas Sakoparnig and Niko Beerenwinkel

    Citation: Genome Medicine 2017 9:104

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  13. Content type: Review

    Neuroimaging genomics is a relatively new field focused on integrating genomic and imaging data in order to investigate the mechanisms underlying brain phenotypes and neuropsychiatric disorders. While early wo...

    Authors: Mary S. Mufford, Dan J. Stein, Shareefa Dalvie, Nynke A. Groenewold, Paul M. Thompson and Neda Jahanshad

    Citation: Genome Medicine 2017 9:102

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  14. Content type: Research

    The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear.

    Authors: Renato Polimanti, Ananda B. Amstadter, Murray B. Stein, Lynn M. Almli, Dewleen G. Baker, Laura J. Bierut, Bekh Bradley, Lindsay A. Farrer, Eric O. Johnson, Anthony King, Henry R. Kranzler, Adam X. Maihofer, John P. Rice, Andrea L. Roberts, Nancy L. Saccone, Hongyu Zhao…

    Citation: Genome Medicine 2017 9:99

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  15. Content type: Review

    Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past f...

    Authors: Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe and Evan E. Eichler

    Citation: Genome Medicine 2017 9:101

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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. Content type: Method

    A major aim of cancer genomics is to pinpoint which somatically mutated genes are involved in tumor initiation and progression. We introduce a new framework for uncovering cancer genes, differential mutation a...

    Authors: Pawel F. Przytycki and Mona Singh

    Citation: Genome Medicine 2017 9:79

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    The Correction to this article has been published in Genome Medicine 2018 10:35

  34. 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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  35. 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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  36. Content type: Research

    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 ...

    Authors: 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…

    Citation: Genome Medicine 2017 9:73

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  37. Content type: Research

    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...

    Authors: 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…

    Citation: Genome Medicine 2017 9:72

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  38. Content type: Research

    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...

    Authors: 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

    Citation: Genome Medicine 2017 9:70

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  39. Content type: Research

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

    Authors: 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…

    Citation: Genome Medicine 2017 9:67

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