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  1. Whole genome sequencing is poised to revolutionize personalized medicine, providing the capacity to classify individuals into risk categories for a wide range of diseases. Here we begin to explore how whole ge...

    Authors: Chirag J Patel, Ambily Sivadas, Rubina Tabassum, Thanawadee Preeprem, Jing Zhao, Dalia Arafat, Rong Chen, Alexander A Morgan, Gregory S Martin, Kenneth L Brigham, Atul J Butte and Greg Gibson
    Citation: Genome Medicine 2013 5:58
    Content type: Research Published on:

  3. Target enrichment technologies utilize single-stranded oligonucleotide probes to capture candidate genomic regions from a DNA sample before sequencing. We describe target capture using double-stranded probes, ...

    Authors: Peidong Shen, Wenyi Wang, Aung-Kyaw Chi, Yu Fan, Ronald W Davis and Curt Scharfe
    Citation: Genome Medicine 2013 5:50
    Content type: Method Published on:

  4. Human papillomavirus positive (HPV+) head and neck squamous cell carcinoma (HNSCC) is an emerging disease, representing a distinct clinical and epidemiological entity. Understanding the genetic basis of this s...

    Authors: Matthias Lechner, Garrett M Frampton, Tim Fenton, Andrew Feber, Gary Palmer, Amrita Jay, Nischalan Pillay, Martin Forster, Maureen T Cronin, Doron Lipson, Vincent A Miller, Timothy A Brennan, Stephen Henderson, Francis Vaz, Paul O'Flynn, Nicholas Kalavrezos…
    Citation: Genome Medicine 2013 5:49
    Content type: Research Published on:

  10. Transcriptional studies suggest Alzheimer's disease (AD) involves dysfunction of many cellular pathways, including synaptic transmission, cytoskeletal dynamics, energetics, and apoptosis. Despite known progres...

    Authors: Jeremy A Miller, Randall L Woltjer, Jeff M Goodenbour, Steve Horvath and Daniel H Geschwind
    Citation: Genome Medicine 2013 5:48
    Content type: Research Published on:

  13. A DNA methylation signature has been characterized that distinguishes rheumatoid arthritis (RA) fibroblast like synoviocytes (FLS) from osteoarthritis (OA) FLS. The presence of epigenetic changes in long-term ...

    Authors: John W Whitaker, Robert Shoemaker, David L Boyle, Josh Hillman, David Anderson, Wei Wang and Gary S Firestein
    Citation: Genome Medicine 2013 5:40
    Content type: Research Published on:

  18. Preterm birth (delivery at less than 37 weeks of gestation) is the leading cause of infant mortality worldwide. So far, the application of animal models to understand human birth timing has not substantially r...

    Authors: Katherine Y Bezold, Minna K Karjalainen, Mikko Hallman, Kari Teramo and Louis J Muglia
    Citation: Genome Medicine 2013 5:34
    Content type: Review Published on:

  19. A fully automated, high-throughput method was developed to profile the fatty acids of phospholipids from human plasma samples for application to a large epidemiological sample set (n > 25,000). We report here on ...

    Authors: Laura Yun Wang, Keith Summerhill, Carmen Rodriguez-Canas, Ian Mather, Pinal Patel, Michael Eiden, Stephen Young, Nita G Forouhi and Albert Koulman
    Citation: Genome Medicine 2013 5:39
    Content type: Method Published on:

  22. The majority of mammalian genes generate multiple transcript variants and protein isoforms through alternative transcription and/or alternative splicing, and the dynamic changes at the transcript/isoform level...

    Authors: ZhongFa Zhang, Sharmistha Pal, Yingtao Bi, Julia Tchou and Ramana V Davuluri
    Citation: Genome Medicine 2013 5:33
    Content type: Research Published on:

  23. 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:

  24. Tumor heterogeneity is a limiting factor in cancer treatment and in the discovery of biomarkers to personalize it. We describe a computational purification tool, ISOpure, which directly addresses the effects o...

    Authors: Gerald Quon, Syed Haider, Amit G Deshwar, Ang Cui, Paul C Boutros and Quaid Morris
    Citation: Genome Medicine 2013 5:29
    Content type: Method Published on:

  26. To facilitate the clinical implementation of genomic medicine by next-generation sequencing, it will be critically important to obtain accurate and consistent variant calls on personal genomes. Multiple softwa...

    Authors: Jason O'Rawe, Tao Jiang, Guangqing Sun, Yiyang Wu, Wei Wang, Jingchu Hu, Paul Bodily, Lifeng Tian, Hakon Hakonarson, W Evan Johnson, Zhi Wei, Kai Wang and Gholson J Lyon
    Citation: Genome Medicine 2013 5:28
    Content type: Research Published on:

  27. Schizophrenia is a heterogeneous psychiatric disorder characterized by an array of clinical manifestations. Although the best known manifestations include serious effects on mood and behavior, patients can als...

    Authors: Paul C Guest, Daniel Martins-de-Souza, Emanuel Schwarz, Hassan Rahmoune, Murtada Alsaif, Jakub Tomasik, Christoph W Turck and Sabine Bahn
    Citation: Genome Medicine 2013 5:25
    Content type: Review Published on:

  28. There has been much investment in research on the ethical, legal and social issues (ELSI) associated with genetic and genomic research. This research should inform the development of the relevant policy. So fa...

    Authors: Timothy Caulfield, Subhashini Chandrasekharan, Yann Joly and Robert Cook-Deegan
    Citation: Genome Medicine 2013 5:21
    Content type: Opinion Published on:

  30. Direct-to-consumer (DTC) personal genotyping services are beginning to be adoptedby educational institutions as pedagogical tools for learning about humangenetics. However, there is little known about student ...

    Authors: Simone Lucia Vernez, Keyan Salari, Kelly E Ormond and Sandra Soo-Jin Lee
    Citation: Genome Medicine 2013 5:24
    Content type: Research Published on:

  31. There is an urgent need for effective genomics education for healthcare professionals. Recent analysis of an experimental genomics curriculum showed that medical students' examinations of their own genotypes p...

    Authors: Mark S Boguski, Robert M Boguski and Michele R Berman
    Citation: Genome Medicine 2013 5:22
    Content type: Research highlight Published on:

  33. Large-scale cancer genome studies are unveiling significant complexity and heterogeneity even in histopathologically indistinguishable cancers. Differentiating 'driver' mutations that are functionally relevant...

    Authors: Andrew V Biankin and Sean M Grimmond
    Citation: Genome Medicine 2013 5:19
    Content type: Research highlight Published on:

  34. The applications of massively parallel sequencing technology to fetal cell-free DNA (cff-DNA) have brought new insight to non-invasive prenatal diagnosis. However, most previous research based on maternal plas...

    Authors: Shengpei Chen, Huijuan Ge, Xuebin Wang, Xiaoyu Pan, Xiaotian Yao, Xuchao Li, Chunlei Zhang, Fang Chen, Fuman Jiang, Peipei Li, Hui Jiang, Hancheng Zheng, Lei Zhang, Lijian Zhao, Wei Wang, Songgang Li…
    Citation: Genome Medicine 2013 5:18
    Content type: Research Published on:

  38. Nuclear magnetic resonance spectroscopy (NMR) provides robust readouts of many metabolic parameters in one experiment. However, identification of clinically relevant markers in 1H NMR spectra is a major challenge...

    Authors: Johannes Raffler, Werner Römisch-Margl, Ann-Kristin Petersen, Philipp Pagel, Florian Blöchl, Christian Hengstenberg, Thomas Illig, Christa Meisinger, Klaus Stark, H-Erich Wichmann, Jerzy Adamski, Christian Gieger, Gabi Kastenmüller and Karsten Suhre
    Citation: Genome Medicine 2013 5:13
    Content type: Method Published on:

  39. Chronic pain affects approximately one in five adults, resulting in a greatly reduced quality of life and a higher risk of developing co-morbidities such as depression. Available treatments often provide inade...

    Authors: Megan Crow, Franziska Denk and Stephen B McMahon
    Citation: Genome Medicine 2013 5:12
    Content type: Review Published on:

  40. Human papillomavirus-positive (HPV+) head and neck squamous cell carcinoma (HNSCC) represents a distinct clinical and epidemiological condition compared with HPV-negative (HPV-) HNSCC. To test the possible inv...

    Authors: Matthias Lechner, Tim Fenton, James West, Gareth Wilson, Andrew Feber, Stephen Henderson, Christina Thirlwell, Harpreet K Dibra, Amrita Jay, Lee Butcher, Ankur R Chakravarthy, Fiona Gratrix, Nirali Patel, Francis Vaz, Paul O'Flynn, Nicholas Kalavrezos…
    Citation: Genome Medicine 2013 5:15
    Content type: Research Published on:

  41. Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically...

    Authors: Matthew N Bainbridge, Hao Hu, Donna M Muzny, Luciana Musante, James R Lupski, Brett H Graham, Wei Chen, Karen W Gripp, Kim Jenny, Thomas F Wienker, Yaping Yang, V Reid Sutton, Richard A Gibbs and H Hilger Ropers
    Citation: Genome Medicine 2013 5:11
    Content type: Research Published on:

  43. Cancer genomics projects employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Examp...

    Authors: Michael P Schroeder, Abel Gonzalez-Perez and Nuria Lopez-Bigas
    Citation: Genome Medicine 2013 5:9
    Content type: Review Published on:

  44. The development of Herceptin® is welcomed as a major advance in breast cancer treatment, while Myriad's development of BRACAnalysis® is a widely used diagnostic. However useful and successful this product is, its...

    Authors: A Lane Baldwin and Robert Cook-Deegan
    Citation: Genome Medicine 2013 5:8
    Content type: Open debate Published on:

  45. In 2009, several independent studies revealed a strong association between genetic variation in the interleukin-28B (IL28B) locus and the outcome of treatment for chronic infection with hepatitis C virus (HCV). H...

    Authors: Kazuaki Chayama and C Nelson Hayes
    Citation: Genome Medicine 2013 5:6
    Content type: Research highlight Published on:

  46. Considerable progress has been made in identifying genetic risk factors for idiosyncratic adverse drug reactions in the past 30 years. These reactions can affect various tissues and organs, including liver, sk...

    Authors: Ann K Daly
    Citation: Genome Medicine 2013 5:5
    Content type: Review Published on:

  47. Biorepositories collecting human specimens and health information have proliferated in recentyears. Efforts to set a range of policies related to biorepositories, including those related toprocedures for obtai...

    Authors: Kyle B Brothers
    Citation: Genome Medicine 2013 5:4
    Content type: Research highlight Published on:

  48. Effective translational biomedical research hinges on the operation of 'biobanks,' repositories that assemble, store, and manage collections of human specimens and related data. Some are established intentiona...

    Authors: Gail E Henderson, R Jean Cadigan, Teresa P Edwards, Ian Conlon, Anders G Nelson, James P Evans, Arlene M Davis, Catherine Zimmer and Bryan J Weiner
    Citation: Genome Medicine 2013 5:3
    Content type: Research Published on:

  49. Although microRNAs (miRNAs) are implicated in osteosarcoma biology and chemoresponse, miRNA prognostic models are still needed, particularly because prognosis is imperfectly correlated with chemoresponse. Form...

    Authors: Andrew D Kelly, Benjamin Haibe-Kains, Katherine A Janeway, Katherine E Hill, Eleanor Howe, Jeffrey Goldsmith, Kyle Kurek, Antonio R Perez-Atayde, Nancy Francoeur, Jian-Bing Fan, Craig April, Hal Schneider, Mark C Gebhardt, Aedin Culhane, John Quackenbush and Dimitrios Spentzos
    Citation: Genome Medicine 2013 5:2
    Content type: Research Published on:

  50. Organic anion transporting polypeptide (OATP) 1B1, OATP1B3, and OATP2B1 (encoded by SLCO1B1, SLCO1B3, SLCO2B1) mediate the hepatic uptake of endogenous compounds like bile acids and of drugs, for example, the lip...

    Authors: Anne T Nies, Mikko Niemi, Oliver Burk, Stefan Winter, Ulrich M Zanger, Bruno Stieger, Matthias Schwab and Elke Schaeffeler
    Citation: Genome Medicine 2013 5:1
    Content type: Research Published on:
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Genome Medicine

ISSN: 1756-994X

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