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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. The scope and eligibility of patents for genetic sequences have been debated for decades, but a critical case regarding gene patents (Association of Molecular Pathologists v. Myriad Genetics) is now reaching the ...

    Authors: Jeffrey A Rosenfeld and Christopher E Mason
    Citation: Genome Medicine 2013 5:27
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. Recommendations and guidance on how to handle the return of genetic results to patients have offered limited insight into how to approach incidental genetic findings in the context of clinical trials. This pap...

    Authors: Ebony B Bookman, Corina Din-Lovinescu, Bradford B Worrall, Teri A Manolio, Siiri N Bennett, Cathy Laurie, Daniel B Mirel, Kimberly F Doheny, Garnet L Anderson, Kate Wehr, Richard Weinshilboum and Donna T Chen
    Citation: Genome Medicine 2013 5:7
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. The overall influence of gene interaction in human disease is unknown. In cystic fibrosis (CF) a single allele of the cystic fibrosis transmembrane conductance regulator (CFTR-ΔF508) accounts for most of the d...

    Authors: Raymond J Louie, Jingyu Guo, John W Rodgers, Rick White, Najaf A Shah, Silvere Pagant, Peter Kim, Michael Livstone, Kara Dolinski, Brett A McKinney, Jeong Hong, Eric J Sorscher, Jennifer Bryan, Elizabeth A Miller and John L Hartman IV
    Citation: Genome Medicine 2012 4:103
  26. An original yeast-based phenomic model for DeltaF508 CFTR, by far the most prevalent allele of the CFTR gene responsible for cystic fibrosis, has been developed by the groups of Elizabeth A Miller and John L Hart...

    Authors: Marc Blondel
    Citation: Genome Medicine 2012 4:98
  27. We present a method, seq2HLA, for obtaining an individual's human leukocyte antigen (HLA) class I and II type and expression using standard next generation sequencing RNA-Seq data. RNA-Seq reads are mapped aga...

    Authors: Sebastian Boegel, Martin Löwer, Michael Schäfer, Thomas Bukur, Jos de Graaf, Valesca Boisguérin, Özlem Türeci, Mustafa Diken, John C Castle and Ugur Sahin
    Citation: Genome Medicine 2012 4:102
  28. The aim of this study was to clarify the role of global hypomethylation of repetitive elements in determining the genetic and clinical features of multiple myeloma (MM).

    Authors: Yuka Aoki, Masanori Nojima, Hiromu Suzuki, Hiroshi Yasui, Reo Maruyama, Eiichiro Yamamoto, Masami Ashida, Mitsuhiro Itagaki, Hideki Asaoku, Hiroshi Ikeda, Toshiaki Hayashi, Kohzoh Imai, Mitsuru Mori, Takashi Tokino, Tadao Ishida, Minoru Toyota…
    Citation: Genome Medicine 2012 4:101

    The Erratum to this article has been published in Genome Medicine 2013 5:88

  29. Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in gen...

    Authors: Flora Tassone, Ka Pou Iong, Tzu-Han Tong, Joyce Lo, Louise W Gane, Elizabeth Berry-Kravis, Danh Nguyen, Lisa Y Mu, Jennifer Laffin, Don B Bailey and Randi J Hagerman
    Citation: Genome Medicine 2012 4:100
  30. The human leukocyte antigen (HLA) is key to many aspects of human physiology and medicine. All current sequence-based HLA typing methodologies are targeted approaches requiring the amplification of specific HL...

    Authors: René L Warren, Gina Choe, Douglas J Freeman, Mauro Castellarin, Sarah Munro, Richard Moore and Robert A Holt
    Citation: Genome Medicine 2012 4:95
  31. Glucocorticoids, such as prednisolone, are widely used anti-inflammatory drugs, but therapy is hampered by a broad range of metabolic side effects including skeletal muscle wasting and insulin resistance. Ther...

    Authors: Sandrine Ellero-Simatos, Ewa Szymańska, Ton Rullmann, Wim HA Dokter, Raymond Ramaker, Ruud Berger, Thijs MP van Iersel, Age K Smilde, Thomas Hankemeier and Wynand Alkema
    Citation: Genome Medicine 2012 4:94
  32. The goal of personalized medicine is to tailor a patient's treatment strategy on the basis of his or her unique genetic make-up. The field of oncology is beginning to incorporate many of the strategies of pers...

    Authors: Erika L Moen, Lucy A Godley, Wei Zhang and M Eileen Dolan
    Citation: Genome Medicine 2012 4:90
  33. In an ongoing clinical trial, the genetic and environmental risk assessment (GERA) blood test offers subjects information about personal colorectal cancer risk through measurement of two novel low-to-moderate ...

    Authors: Michael J Hall, Sharon L Manne, Ronald E Myers, Eileen M Keenan, Andrew M Balshem and David S Weinberg
    Citation: Genome Medicine 2012 4:92
  34. Translation of pharmacogenomics to public health action is at the epicenter of the life sciences agenda. Post-genomics knowledge is simultaneously co-produced at multiple scales and locales by scientists, crow...

    Authors: Edward S Dove, Samer A Faraj, Eugene Kolker and Vural Özdemir
    Citation: Genome Medicine 2012 4:91
  35. Genomic variants with a key role in causing cancer or affecting the response to cancertherapeutics need to be identified so that they can be targeted for therapy. The transFIC tool aimsto identify somatic poin...

    Authors: Vidhya G Krishnan and Pauline C Ng
    Citation: Genome Medicine 2012 4:88
  36. We here present a comparative genome, transcriptome and functional network analysis of three human cancer cell lines (A431, U251MG and U2OS), and investigate their relation to protein expression. Gene copy num...

    Authors: Pelin Akan, Andrey Alexeyenko, Paul Igor Costea, Lilia Hedberg, Beata Werne Solnestam, Sverker Lundin, Jimmie Hällman, Emma Lundberg, Mathias Uhlén and Joakim Lundeberg
    Citation: Genome Medicine 2012 4:86
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