Abstracts From The 55th European Society Of Human Genetics Conference: Oral Presentations

    May 2023 in “ European Journal of Human Genetics ”
    Predicting a protein's structure from its primary sequence has been a grand challenge in biology for the past years, , we will describe work at DeepMind to develop AlphaFold, ,
    TLDR NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
    The document summarizes two studies presented at the 55th European Society of Human Genetics Conference. The first study, involving 231,896 pregnant women from the Dutch TRIDENT-2 NIPT implementation study, found that 0.02% of NIPT results suggested potential maternal malignancy, with 16 out of 48 suspicious cases confirmed as malignancies, mainly hematologic. This indicates NIPT's potential in guiding oncologic examinations. The second study introduced GIPXplore, a machine learning tool for detecting immune-mediated diseases (IMD) from cell-free DNA profiles. It showed that pregnant women with IMD had higher odds of inconclusive NIPS results, and the model identified 70% of autoimmune disease cases at 95% specificity, suggesting its utility in identifying at-risk pregnancies and latent IMD in the general population.
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