Computational Molecular Biology 2025, Vol.15, No.3, 122-130 http://bioscipublisher.com/index.php/cmb 129 Dowling P., Trollet C., Negroni E., Swandulla D., and Ohlendieck K., 2024, How can proteomics help to elucidate the pathophysiological crosstalk in muscular dystrophy? Proteomes, 12(1): 4. https://doi.org/10.3390/proteomes12010004 Gainotti S., Turner C., Woods S., Kole A., McCormack P., Lochmüller H., Riess O., Straub V., Posada M., Taruscio D., and Mascalzoni D., 2016, Improving the informed consent process in international collaborative rare disease research, European Journal of Human Genetics, 24(9): 1248-1254. https://doi.org/10.1038/ejhg.2016.2 Hansson M., Lochmüller H., Riess O., Schaefer F., Orth M., Rubinstein Y., Molster C., Dawkins H., Taruscio D., Posada M., and Woods S., 2016, The risk of re-identification versus the need to identify individuals in rare disease research, European Journal of Human Genetics, 24(11): 1553-1558. https://doi.org/10.1038/ejhg.2016.52 Hesterlee S., 2021, Optimizing rare disease registries and natural history studies, In: Rare Disease Drug Development: Clinical, Scientific, Patient, and Caregiver Perspectives, Springer International Publishing, pp.109-125. https://doi.org/10.1007/978-3-030-78605-2_8 Ibrahim N., 2023, Navigating the complexity of rare diseases: challenges, innovations, and future directions, Global Journal of Medical Therapeutics, 5(4): 12-22. https://doi.org/10.46982/gjmt.2023.108 Jia J., An Z., Ming Y., Guo Y., Li W., Liang Y., Guo D., Li X., Tai J., Chen G., Jin Y., Liu Z., Ni M., and Shi T., 2018, eRAM: encyclopedia of rare disease annotations for precision medicine, Nucleic Acids Research, 46(D1): D937-D943. https://doi.org/10.1093/nar/gkx1062 Kerr K., McAneney H., Smyth L., Bailie C., McKee S., and McKnight A., 2020, A scoping review and proposed workflow for multi-omic rare disease research, Orphanet Journal of Rare Diseases, 15(1): 107. https://doi.org/10.1186/s13023-020-01376-x Koromina M., Fanaras V., Baynam G., Mitropoulou C., and Patrinos G., 2021, Ethics and equity in rare disease research and healthcare, Personalized Medicine, 18(4): 407-416. https://doi.org/10.2217/pme-2020-0144 Krawitz P., and Haack T., 2023, Editorial-Diagnostic genome sequencing in rare disorders, Medizinische Genetik, 35(2): 89. https://doi.org/10.1515/medgen-2023-2029 Lembo S., Barra P., Dash S., and Di Biasi L., 2024, Challenges and opportunities of symbiotic AI in rare disease diagnosis, In: 2024 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), IEEE, pp.6820-6825. https://doi.org/10.1109/BIBM62325.2024.10822548 Liu J., Barrett J., Leonardi E.T., Lee L., Roychoudhury S., Chen Y., and Trifillis P., 2022, Natural history and real-world data in rare diseases: applications, limitations, and future perspectives, The Journal of Clinical Pharmacology, 62: S38-S55. https://doi.org/10.1002/jcph.2134 Lochmüller H., Badowska D., Thompson R., Knoers N., Aartsma-Rus A., Gut I., Wood L., Harmuth T., Durudas A., Graessner H., Schaefer F., Riess O., RD-Connect consortium, NeurOmics consortium and EURenOmics Consortium, 2018, RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases, European Journal of Human Genetics, 26(6): 778-785. https://doi.org/10.1038/s41431-018-0115-5 Lu Y., Chang Y., Hoffman E., Yu G., Herrington D., Clarke R., Wu C.T., Chen L., and Wang Y., 2019, Integrated identification of disease-specific pathways using multi-omics data, bioRxiv, 2019: 666065. https://doi.org/10.1101/666065 Mitani A., and Haneuse S., 2020, Small data challenges of studying rare diseases, JAMA Network Open, 3(3): e201965. https://doi.org/10.1001/jamanetworkopen.2020.1965 Olexiouk V., 2023, Challenges and opportunities with multi-omics integration in precision medicine, In: The 2nd International Conference on Systems Medicine AI & Drug Repurposing, REPO4EU, 2023:2. https://doi.org/10.58647/REXPO.23030 Paczkowska M., Barenboim J., Sintupisut N., Fox N.S., Zhu H., Abd-Rabbo D., Mee M., Boutros P., PCAWG Drivers and Functional Interpretation Working Group, Reimand J., and PCAWG Consortium, 2020, Integrative pathway enrichment analysis of multivariate omics data, Nature Communications, 11(1): 735. Pahelkar A., Sharma D., Vohra P., and Sawant S., 2024, Leveraging multi-omics approaches and advanced technologies for hemoglobin H disease, European Journal of Haematology, 113(6): 738-744. https://doi.org/10.1111/ejh.14319 Schneegans E., Fancy N., Thomas M., Willumsen N., Matthews P., and Jackson J., 2023, Omix: A multi-omics integration pipeline, bioRxiv, 30: 555486. https://doi.org/10.1101/2023.08.30.555486 Takashima K., Maru Y., Mori S., Mano H., Noda T., and Muto K., 2018, Ethical concerns on sharing genomic data including patients’ family members, BMC Medical Ethics, 19(1): 61. https://doi.org/10.1186/s12910-018-0310-5 Vera C.D., Zhang A., Pang P., and Wu J.C., 2022, Treating Duchenne muscular dystrophy: the promise of stem cells, artificial intelligence, and multi-omics, Frontiers in Cardiovascular Medicine, 9: 851491. https://doi.org/10.3389/fcvm.2022.851491
RkJQdWJsaXNoZXIy MjQ4ODYzNA==