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    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

    Published 2025-02-01
    “…This study highlights the importance of considering semi-dominant inheritance models for dystrophic epidermolysis bullosa and other Mendelian diseases with an autosomal recessive mode of inheritance, as it can significantly impact diagnosis and genetic counseling.…”
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  3. 403

    SPAGRM: effectively controlling for sample relatedness in large-scale genome-wide association studies of longitudinal traits by He Xu, Yuzhuo Ma, Lin-lin Xu, Yin Li, Yufei Liu, Ying Li, Xu-jie Zhou, Wei Zhou, Seunggeun Lee, Peipei Zhang, Weihua Yue, Wenjian Bi

    Published 2025-02-01
    “…A common strategy is to incorporate a random effect related to genetic relatedness matrix (GRM) into regression models. …”
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    Advancing pancreatic cancer research and therapeutics: the transformative role of organoid technology by Jihao Xu, Minh Duc Pham, Vincenzo Corbo, Mariano Ponz-Sarvise, Tobiloba Oni, Daniel Öhlund, Chang-Il Hwang

    Published 2025-01-01
    “…These three-dimensional cultures enable the proper recapitulation of the cellular architecture and genetic makeup of the original tumors, providing insights into the complex molecular and cellular dynamics at various stages of pancreatic ductal adenocarcinoma (PDAC). …”
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