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  1. The Human Gene Mutation Database (HGMD®) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of t...

    Authors: Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick ST Thomas and David N Cooper

    Citation: Genome Medicine 2009 1:13

    Content type: Correspondence

    Published on:

  2. It has been established that heterozygous carriers of ataxia-telangiectasia-causing mutations in the ATM gene are at approximately two-fold higher risk of breast cancer. Several studies have attempted to assess t...

    Authors: Roger L Milne

    Citation: Genome Medicine 2009 1:12

    Content type: Minireview

    Published on:

  3. Genome medicine uses genomic information in the diagnosis of disease and in prescribing treatment. This transdisciplinary field brings together knowledge on the relationships between genetics, pathophysiology ...

    Authors: Aislyn D Wist, Seth I Berger and Ravi Iyengar

    Citation: Genome Medicine 2009 1:11

    Content type: Review

    Published on:

  4. The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the r...

    Authors: 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…

    Citation: Genome Medicine 2009 1:8

    Content type: Correspondence

    Published on:

  5. The Genetic Information Nondiscrimination Act of 2008 (GINA) was recently enacted in the United States. Its supporters have applauded the passage of GINA, and they hope that it will alleviate public fear about...

    Authors: Amy L McGuire and Mary Anderlik Majumder

    Citation: Genome Medicine 2009 1:6

    Content type: Commentary

    Published on:

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