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Research highlights

This list will be updated with all our new Research highlights. Genome Medicine publishes Research highlights that are open access and therefore free to read and share.

  1. Content type: Research Highlight

    Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP)....

    Authors: Lora J. H. Bean and Madhuri R. Hegde

    Citation: Genome Medicine 2017 9:111

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  2. Content type: Research Highlight

    Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neuro...

    Authors: Matthew Jensen and Santhosh Girirajan

    Citation: Genome Medicine 2017 9:109

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    The Research to this article has been published in Genome Medicine 2017 9:106

  3. Content type: Research Highlight

    Progress in personalized medicine is now being translated to personalized nutrition. A recent proof-of-concept study shows that the increase in blood glucose levels after a meal is highly variable between indi...

    Authors: Marc-Emmanuel Dumas

    Citation: Genome Medicine 2016 8:7

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  4. Content type: Research Highlight

    Cancer immunotherapy is very effective and leads to a long-term response in certain patients. Yet, the variability observed in this response indicates that additional factors related to the host must influence...

    Authors: Maria Rescigno

    Citation: Genome Medicine 2015 7:131

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  5. Content type: Research Highlight

    Alterations in RNA splicing are frequent in human tumors. Two recent studies of lymphoma and breast cancer have identified components of the spliceosome — the core splicing machinery — that are essential for m...

    Authors: Olga Anczuków and Adrian R. Krainer

    Citation: Genome Medicine 2015 7:107

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  6. Content type: Research Highlight

    Alzheimer’s disease is the most common type of dementia, and it is characterized by a decline in memory or other thinking skills. The greatest risk factor for Alzheimer’s disease is advanced age. A recent geno...

    Authors: Rita Guerreiro and Jose Bras

    Citation: Genome Medicine 2015 7:106

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  7. Content type: Research highlight

    Most pediatric tumors have only very few somatic mutations. However, a recent study revealed that a subset of tumors from children with congenital biallelic deficiency of DNA mismatch repair exhibits a mutatio...

    Authors: Matthias Schlesner and Roland Eils

    Citation: Genome Medicine 2015 7:31

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  8. Content type: Research highlight

    Recent twin studies highlight the astonishing impact of non-heritable contributions to our immune health and wellbeing. Immunologists, long familiar with heterogeneity generated from within cells, must now gra...

    Authors: Alan G Baxter and Philip D Hodgkin

    Citation: Genome Medicine 2015 7:29

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