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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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    Nelson textbook of pediatrics.

    Published 2011
    Table of Contents: “…IX: The acutely ill child -- Pt. X: Human genetics -- Pt. XI: Genetic disorders of metabolism -- Pt. …”
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