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    Genetic Risk Factors for Metabolic Dysfunction-Associated Steatotic Liver Disease by Yiying Pei, George Boon-Bee Goh

    Published 2025-01-01
    “…MASLD is a complex disease in which the interactions between susceptible genes and the environment influence the disease phenotype and severity. Advances in human genetics over the past few decades have provided new opportunities to improve our understanding of the multiple pathways involved in the pathogenesis of MASLD. …”
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    Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system by Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles

    Published 2024-10-01
    “…Owing to the current heterogeneity in the classification of CHs, data analysis may be biased, impacting the quality of clinical reports and human genetic research. This review highlights the need for a universal scoring system, which is essential for scientific reproducibility and the accurate identification and clinical evaluation of human CHs.…”
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    Improving polygenic prediction from summary data by learning patterns of effect sharing across multiple phenotypes. by Deborah Kunkel, Peter Sørensen, Vijay Shankar, Fabio Morgante

    Published 2025-01-01
    “…Polygenic prediction of complex trait phenotypes has become important in human genetics, especially in the context of precision medicine. …”
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