遇见数据集

Understanding the landscape of structural variants in Indian population and their implications in genetic diseases

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Zenodo2024-01-30 更新2026-05-26 收录
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Appendix datasets for Thesis Appendix 1 List of 38560 variants in the final SV callset with the chromosomal coordinates and variant frequencies Appendix 2 List of 22589 rare deletions with their comprehensive annotations Appendix 3 List of 192 P/LP deletion/duplication from the AnnotSV classification Appendix 4 List of final 134 P/LP deletions after manual review Appendix 5 List of 10 P/LP deletions having full gene deletions Appendix 6 List of 27 P/LP deletions with their previously reported P_loss_sources Appendix 7 Table of disease-gene enrichment analysis for the genes affected by 134 P/LP deletions

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2024-01-30
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