Skip to main content

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. A recent study highlights the presence of a unique memory-like natural killer (NK) cell subset, which accumulates with aging and appears to associate withdisease severity in COVID-19 patients. While the clinic...

    Authors: Dandan Wang and Subramaniam Malarkannan
    Citation: Genome Medicine 2022 14:57
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2022 14:46

  2. High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understand...

    Authors: Maitreya Das and Santhosh Girirajan
    Citation: Genome Medicine 2021 13:99
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2021 13:90

  3. The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues ident...

    Authors: Vijay Kumar Pounraja and Santhosh Girirajan
    Citation: Genome Medicine 2019 11:24
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2019 11:12

  4. As trials of immune checkpoint inhibitor (ICI) therapies demonstrate responses in only a minority of pleural mesotheliomas (PlMs) and largely exclude patients with the related peritoneal mesothelioma (PeM), cl...

    Authors: Marc Ladanyi, Francisco Sanchez Vega and Marjorie Zauderer
    Citation: Genome Medicine 2019 11:18
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2019 11:8

  5. A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when predicting disease risk in individuals from populations other than those used in their derivation. The design bias of work...

    Authors: Francisco M. De La Vega and Carlos D. Bustamante
    Citation: Genome Medicine 2018 10:100
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Biology 2018 19:179

  6. 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
    Content type: Research Highlight Published on:

  7. 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
    Content type: Research Highlight Published on:

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

  8. Increases in α-synuclein protein expression are suspected to increase the risk of the development of Parkinson’s disease (PD). A recent study has demonstrated that β2-adrenergic receptor (β2AR) agonists decrea...

    Authors: Hisham Abdelmotilib and Andrew B. West
    Citation: Genome Medicine 2017 9:88
    Content type: Research Highlight Published on:

  13. 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
    Content type: Research Highlight Published on:

  15. 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
    Content type: Research Highlight Published on:

  16. 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
    Content type: Research Highlight Published on:

  19. 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
    Content type: Research highlight Published on:

  20. 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
    Content type: Research highlight Published on: