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1.
15764 Accesses
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Next generation sequence analysis for mitochondrial disorders
Valeria Vasta, Sarah B Ng, Emily H Turner, Jay Shendure, Si Houn Hahn Genome Medicine 2009, 1:100 (23 October 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Early and accurate diagnosis of mitochondrial disorders is promised by a cost-effective screening method which can rapidly detect mutations in several hundred candidate genes.
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2.
11273 Accesses
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Gut microbiome-host interactions in health and disease
James M Kinross, Ara W Darzi, Jeremy K Nicholson Genome Medicine 2011, 3:14 (4 March 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The gut microbiome plays an important role in human disease and further understanding microbiome activity is crucial for the development of future personalized treatment strategies.
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3.
10420 Accesses
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Systems medicine: the future of medical genomics and healthcare
Charles Auffray, Zhu Chen, Leroy Hood Genome Med 2009, 1:2 (20 January 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Systems approaches to medicine will transform the way drugs are developed and will enable medicine to become predictive, personalized, preventive and participatory.
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4.
9546 Accesses
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Genetic overlap between autism, schizophrenia and bipolar disorder
Liam S Carroll, Michael J Owen Genome Medicine 2009, 1:102 (30 October 2009)
Abstract | Full text | PDF | PubMed |
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Editor’s summary
Overlap between the loci that predispose to autism, schizophrenia and bipolar disorder suggests shared pathogenic mechanisms and challenges the view that these disorders are unrelated diagnostic entities.
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5.
8796 Accesses
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Integration of microRNA changes in vivo identifies novel molecular features of muscle insulin resistance in type 2 diabetes
Iain J Gallagher, Camilla Scheele, Pernille Keller, Anders R Nielsen, Judit Remenyi, Christian P Fischer, Karim Roder, John Babraj, Claes Wahlestedt, Gyorgy Hutvagner, Bente K Pedersen, James A Timmons Genome Medicine 2010, 2:9 (1 February 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Muscle mRNA expression is invariant with respect to diabetes status, but coordinated changes in numerous microRNAs may control protein abundance and affect skeletal muscle insulin resistance, a critical component of the disease.
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6.
8675 Accesses
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Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines
Tewarit Sarachana, Rulun Zhou, Guang Chen, Husseini K Manji, Valerie W Hu Genome Medicine 2010, 2:23 (7 April 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
43 microRNAs with target genes associated with autism are dysregulated in samples from patients with this condition, suggesting that microRNAs contribute to the gene expression alterations and consequently the physiological abnormalities underlying autistic spectrum disorders.
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7.
7895 Accesses
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Large-scale data integration framework provides a comprehensive view on glioblastoma multiforme
Kristian Ovaska, Marko Laakso, Saija Haapa-Paananen, Riku Louhimo, Ping Chen, Viljami Aittomäki, Erkka Valo, Javier Núñez-Fontarnau, Ville Rantanen, Sirkku Karinen, Kari Nousiainen, Anna-Maria Lahesmaa-Korpinen, Minna Miettinen, Lilli Saarinen, Pekka Kohonen, Jianmin Wu, Jukka Westermarck, Sampsa Hautaniemi Genome Medicine 2010, 2:65 (7 September 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Anduril, a computational framework that allows for rapid integration of heterogeneous molecular and clinical information, identifies Moesin as a novel gene associated with survival in glioblastoma multiforme and represents a valuable tool for systems analyses.
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8.
7888 Accesses
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Future medical applications of single-cell sequencing in cancer
Nicholas Navin, James Hicks Genome Medicine 2011, 3:31 (31 May 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Navin and Hicks provide an overview of recent methods for sequencing in single cells and discuss how this approach will be useful for detection of copy number variation for improving cancer outcomes.
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9.
7435 Accesses
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Genomic disorders ten years on
James R Lupski Genome Medicine 2009, 1:42 (24 April 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
James R Lupski reviews the last decade of research into genomic disorders, from the original discoveries to their current position as one of the hottest fields of the post-genomic era.
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10.
7021 Accesses
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Networking of differentially expressed genes in human cancer cells resistant to methotrexate
Elisabet Selga, Carlota Oleaga, Sara Ramírez, M Cristina de Almagro, Véronique Noé, Carlos J Ciudad Genome Medicine 2009, 1:83 (4 September 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Dikkopf homolog-1, UDP-glucuronosyltransferase 1A and Eukaryotic translation elongation factor 1 alpha 1 play key roles in the development of resistance to methotrexate and offer novel therapeutic targets for chemosensitization to cancer therapy.
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11.
6903 Accesses
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The $1,000 genome, the $100,000 analysis?
Elaine R Mardis Genome Medicine 2010, 2:84 (26 November 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Lowered price and speed brings routine clinical use of whole-genome sequencing ever closer, but improved reference and functional data and dedicated analysis pipelines are required to make it a reality.
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12.
6834 Accesses
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Race and ancestry in biomedical research: exploring the challenges
Timothy Caulfield, Stephanie M Fullerton, Sarah E Ali-Khan, Laura Arbour, Esteban G Burchard, Richard S Cooper, Billie-Jo Hardy, Simrat Harry, Robyn Hyde-Lay, Jonathan Kahn, Rick Kittles, Barbara A Koenig, Sandra SJ Lee, Michael Malinowski, Vardit Ravitsky, Pamela Sankar, Stephen W Scherer, Béatrice Séguin, Darren Shickle, Guilherme Suarez-Kurtz, Abdallah S Daar Genome Med 2009, 1:8 (21 January 2009)
Abstract | Full text | PDF | PubMed
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Editor’s summary
An interdisciplinary workshop explores the controversies around the use of race in biomedical research and highlights challenges for an accurate representation of race not only in clinical trials but also by the lay press.
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13.
6800 Accesses
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Metabolome in schizophrenia and other psychotic disorders: a general population-based study
Matej Orešič, Jing Tang, Tuulikki Seppänen-Laakso, Ismo Mattila, Suoma E Saarni, Samuli I Saarni, Jouko Lönnqvist, Marko Sysi-Aho, Tuulia Hyötyläinen, Jonna Perälä, Jaana Suvisaari Genome Medicine 2011, 3:19 (23 March 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A population-based metabolomics study in Finland reveals disease-specific metabolic abnormalities associated with schizophrenia, compared with other psychotic disorders.
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14.
6709 Accesses
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Genome Medicine: past, present and future
Charles Auffray, Timothy Caulfield, Muin J Khoury, James R Lupski, Matthias Schwab, Timothy Veenstra Genome Medicine 2011, 3:6 (31 January 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
As Genome Medicine reaches its second anniversary, our Section Editors identify the most exciting recent breakthroughs and offer their opinions on what the future of genomic medicine might hold.
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15.
6613 Accesses
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Translational bioinformatics in the cloud: an affordable alternative
Joel T Dudley, Yannick Pouliot, Rong Chen, Alexander A Morgan, Atul J Butte Genome Medicine 2010, 2:51 (6 August 2010)
Abstract | Full text | PDF | PubMed |
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Editor’s summary
Cloud-based analysis offers a valid alternative both in terms of performance and cost to local computational clusters for the integration and analysis of large-scale genomic datasets relevant for translational research.
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16.
6541 Accesses
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The Human Gene Mutation Database: 2008 update
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick ST Thomas, David N Cooper Genome Med 2009, 1:13 (22 January 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The Human Gene Mutation Database (HGMD) contains over 80,000 germ-line mutations associated with human inherited diseases and has proven a valuable tool for researchers and physicians as well as commercial customers and genetic counsellors.
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17.
6215 Accesses
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A kernel-based integration of genome-wide data for clinical decision support
Anneleen Daemen, Olivier Gevaert, Fabian Ojeda, Annelies Debucquoy, Johan AK Suykens, Christine Sempoux, Jean-Pascal Machiels, Karin Haustermans, Bart De Moor Genome Medicine 2009, 1:39 (3 April 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
A kernel-based supervised classification algorithm allows the integration of genome-wide data from different sources and improves the prediction of clinical outcomes from cancer data sets.
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18.
6098 Accesses
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Application of serum proteomics to the Women's Health Initiative conjugated equine estrogens trial reveals a multitude of effects relevant to clinical findings
Hiroyuki Katayama, Sophie Paczesny, Ross Prentice, Aaron Aragaki, Vitor M Faca, Sharon J Pitteri, Qing Zhang, Hong Wang, Melissa Silva, Jacob Kennedy, Jacques Rossouw, Rebecca Jackson, Judith Hsia, Rowan Chlebowski, JoAnn Manson, Samir Hanash Genome Medicine 2009, 1:47 (29 April 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The first large-scale proteomic analysis of samples from the Women's Health Initiative reveals that estrogen replacement therapy affects at least 10% of the serum proteome, particularly proteins involved in processes related to cardiovascular disease and osteoporosis.
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19.
6048 Accesses
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Discovery of microvascular miRNAs using public gene expression data: miR-145 is expressed in pericytes and is a regulator of Fli1
Erik Larsson, Peder Fredlund Fuchs, Johan Heldin, Irmeli Barkefors, Cecilia Bondjers, Guillem Genové, Christelle Arrondel, Pär Gerwins, Christine Kurschat, Bernhard Schermer, Thomas Benzing, Scott J Harvey, Johan Kreuger, Per Lindahl Genome Medicine 2009, 1:108 (16 November 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The microRNAs miR-145, miR-126, miR-24 and miR-23a are selectively expressed in microvascular fragments in vivo, and miR-145 blocks migration in response to growth factor gradients, offering a novel therapeutic candidate for vascular disease.
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20.
5969 Accesses
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Epigenomics of human embryonic stem cells and induced pluripotent stem cells: insights into pluripotency and implications for disease
Alvaro Rada-Iglesias, Joanna Wysocka Genome Medicine 2011, 3:36 (7 June 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Wysocka and Rada-Iglesias review advances in epigenomic profiling of human pluripotent stem cells, highlighting the roles of regulatory elements and the implications for disease.
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21.
5890 Accesses
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Copy number variations and cancer
Adam Shlien, David Malkin Genome Med 2009, 1:62 (16 June 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Germline and somatic copy number variations play an increasingly important role in both the predisposition to and the pathogenesis of cancer.
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22.
5747 Accesses
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Non-coding RNAs: a key to future personalized molecular therapy?
Marco Galasso, Maria Elena Sana, Stefano Volinia Genome Medicine 2010, 2:12 (18 February 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Non-coding RNAs such as microRNAs and small nucleolar RNAs are implicated in human diseases ranging from cancer to neurodegenerative and metabolic diseases and offer new avenues for the development of non-invasive diagnostics and molecular therapies.
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23.
5730 Accesses
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Linking genes to diseases: it's all in the data
Nicki Tiffin, Miguel A Andrade-Navarro, Carolina Perez-Iratxeta Genome Med 2009, 1:77 (7 August 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Computational approaches to disease-gene associations, especially those that use phenotype ontologies, can help to prioritize the most likely candidate genes.
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24.
5532 Accesses
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Collaboratively charting the gene-to-phenotype network of human congenital heart defects
Roland Barriot, Jeroen Breckpot, Bernard Thienpont, Sylvain Brohée, Steven Van Vooren, Bert Coessens, Leon-Charles Tranchevent, Peter Van Loo, Marc Gewillig, Koenraad Devriendt, Yves Moreau Genome Medicine 2010, 2:16 (1 March 2010)
Abstract | Full text | PDF | PubMed | F1000 Biology
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Editor’s summary
The development of a specialized portal for collaborative annotation and analysis of gene-phenotype networks in congenital heart defects using a Wiki platform highlights this technology’s potential for systems biology studies of other complex biological processes.
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25.
5529 Accesses
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Novel proteins associated with risk for coronary heart disease or stroke among postmenopausal women identified by in-depth plasma proteome profiling
Ross L Prentice, Sophie Paczesny, Aaron Aragaki, Lynn M Amon, Lin Chen, Sharon J Pitteri, Martin McIntosh, Pei Wang, Tina Buson Busald, Judith Hsia, Rebecca D Jackson, Jacques E Rossouw, JoAnn E Manson, Karen Johnson, Charles Eaton, Samir M Hanash Genome Medicine 2010, 2:48 (28 July 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
In-depth proteome analysis of samples from postmenopausal women identifies the level of beta-2 microglobulin and insulin-like growth factor binding protein as biomarkers for risk of coronary heart disease and stroke respectively.
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