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  1. Preimplantation genetic diagnosis (PGD) involves testing of single cells biopsied from oocytes and/or embryos generated in vitro. As only embryos unaffected for a given genetic condition are transferred to the ut...

    Authors: Martine De Rycke
    Citation: Genome Medicine 2010 2:74
  2. Stem cell banks are increasingly seen as an essential resource of biological materials for both basic and translational research. Stem cell banks support transnational access to quality-controlled and ethicall...

    Authors: Bartha M Knoppers and Rosario Isasi
    Citation: Genome Medicine 2010 2:73
  3. Coordinated efforts to collect large-scale data sets provide a basis for systems level understanding of complex diseases. In order to translate these fragmented and heterogeneous data sets into knowledge and m...

    Authors: 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…
    Citation: Genome Medicine 2010 2:65
  4. Eosinophilic esophagitis (EoE) is increasingly diagnosed as a disorder throughout the world. It is characterized by eosinophils in the esophagus due to food allergies. Molecular analysis of esophageal biopsies...

    Authors: Jonathan M Spergel
    Citation: Genome Medicine 2010 2:60
  5. A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease pr...

    Authors: Mathias Toft and Owen A Ross
    Citation: Genome Medicine 2010 2:62
  6. The diagnosis of healthcare-associated infections is problematic because of the overlap between clinical signs associated with 'normal' physiological disturbances and those of bacteremia or fungemia. Earlier d...

    Authors: Richard A Polin and Tara M Randis
    Citation: Genome Medicine 2010 2:58
  7. Genomic imprinting refers to a class of transmissible genetic effects in which the expression of the phenotype in the offspring depends on the parental origin of the transmitted allele. The DNA from one parent...

    Authors: Braxton D Mitchell and Toni I Pollin
    Citation: Genome Medicine 2010 2:55
  8. The European Union multi-disciplinary Personalised RNA interference to Enhance the Delivery of Individualised Cytotoxic and Targeted therapeutics (PREDICT) consortium has recently initiated a framework to acce...

    Authors: Charles Swanton, James M Larkin, Marco Gerlinger, Aron C Eklund, Michael Howell, Gordon Stamp, Julian Downward, Martin Gore, P Andrew Futreal, Bernard Escudier, Fabrice Andre, Laurence Albiges, Benoit Beuselinck, Stephane Oudard, Jens Hoffmann, Balázs Gyorffy…
    Citation: Genome Medicine 2010 2:53
  9. The recent advent of genomic approaches for association testing is starting to enable a more comprehensive understanding of the role of human immune response in determining infectious disease outcomes. Progres...

    Authors: Chiea C Khor and Martin L Hibberd
    Citation: Genome Medicine 2010 2:52
  10. With the continued exponential expansion of publicly available genomic data and access to low-cost, high-throughput molecular technologies for profiling patient populations, computational technologies and info...

    Authors: Joel T Dudley, Yannick Pouliot, Rong Chen, Alexander A Morgan and Atul J Butte
    Citation: Genome Medicine 2010 2:51
  11. Coronary heart disease (CHD) and stroke were key outcomes in the Women's Health Initiative (WHI) randomized trials of postmenopausal estrogen and estrogen plus progestin therapy. We recently reported a large n...

    Authors: 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 and Samir M Hanash
    Citation: Genome Medicine 2010 2:48
  12. The ethical issues surrounding genotyping for single nucleotide polymorphisms (SNPs) or for copy number variation (CNV) are very different. SNP genotyping can focus on ancestry, risk probability, single gene d...

    Authors: Arthur L Beaudet
    Citation: Genome Medicine 2010 2:42
  13. Myeloid leukemias are a heterogeneous group of diseases originating from bone marrow myeloid progenitor cells. Patients with myeloid leukemias can achieve long-term survival through targeted therapy, cure afte...

    Authors: Sigrun M Hjelle, Rakel B Forthun, Ingvild Haaland, Håkon Reikvam, Gry Sjøholt, Øystein Bruserud and Bjørn T Gjertsen
    Citation: Genome Medicine 2010 2:41
  14. Panic disorder (PD) is the most common anxiety disorder. Although PD seems to occur unprovoked and the underlying etiology is not well understood, studies have consistently shown that genetic factors explain a...

    Authors: Johannes Schumacher and Jürgen Deckert
    Citation: Genome Medicine 2010 2:40
  15. The biological causes of childhood obesity are complex. Environmental factors, such as massive marketing campaigns for food leading to over-nutrition and snacking and the decline in physical activity, have und...

    Authors: Hélène Choquet and David Meyre
    Citation: Genome Medicine 2010 2:36
  16. Genome-wide maps of DNA regulatory elements and their interaction with transcription factors may form a framework for understanding regulatory circuits and gene expression control in human disease, but how the...

    Authors: Mun-Kit Choy, Mehregan Movassagh, Lee Siggens, Ana Vujic, Martin Goddard, Ana Sánchez, Neil Perkins, Nichola Figg, Martin Bennett, Jason Carroll and Roger Foo
    Citation: Genome Medicine 2010 2:37
  17. Schizophrenia is a multifactorial complex disease with a large impact on society. Many hypotheses have been proposed over the years to explain its causes, and genomics and functional genomic approaches may she...

    Authors: Benedetta Frida Baldi, Christine Hoyer and Nicolas Le Novère
    Citation: Genome Medicine 2010 2:32
  18. Patients are beginning to present to healthcare providers with the results of high-throughput individualized genotyping, and interpreting these results in the context of the explosive growth of literature link...

    Authors: Alexander A Morgan, Rong Chen and Atul J Butte
    Citation: Genome Medicine 2010 2:30
  19. Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whe...

    Authors: Katie Moyer, Vivek Kaimal, Cristina Pacheco, Reena Mourya, Huan Xu, Pranavkumar Shivakumar, Ranajit Chakraborty, Marepalli Rao, John C Magee, Kevin Bove, Bruce J Aronow, Anil G Jegga and Jorge A Bezerra
    Citation: Genome Medicine 2010 2:33
  20. Among the various sequence repeats that shape the human genome, trinucleotide repeats have attracted special interest as a result of their involvement in a class of human genetic disorders known as triplet rep...

    Authors: Piotr Kozlowski, Krzysztof Sobczak and Wlodzimierz J Krzyzosiak
    Citation: Genome Medicine 2010 2:29
  21. Current policy statements discourage identification of disease carrier status in minors on the grounds that carrier information is of mainly reproductive significance. Such policies fail to consider that the c...

    Authors: Lainie Friedman Ross
    Citation: Genome Medicine 2010 2:25

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