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medRxiv 预印本· Ameur, A., Taylan, F., Ek, M., Eisfeldt, J., Häggqvist, S., Pettersson, M., Bunikis, I., Klar, J., Strandh, M., Josefson, R., Barbaro, M., Beskow, A., Blomberg, A., Bondeson, M.-L., Carlberg, D., Corcoran, P., Duba, I., Ellegard, R., Engström, G., Fall, T., Frykholm, C., Gallardo, M., Gruvberger Saal, S., Gummesson, A., Gustafsson, P., Hagwall, A., Hallin, J., Heintz, J., Helgadottir, H. T., Hellstedt Kerje, S., Henmyr, V., Henry, O. J., Höijer, I., Ivarsson, S., Jemt, A., Jernberg, T., Johansson, A., Soller, M. J., Jonsäll, L., Jonson, T., Jonsson, F., Karrman, K., Kashyap, A., Koc, A., K ·· 21 小时前AI 评分42

瑞典长读长基因组测序国家生态:Genome of Sweden 与 GMS-RD 罕见病诊断试点整合

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

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瑞典整合 Genome of Sweden(GoS)与 Genomic Medicine Sweden - Rare Diseases(GMS-RD)长读长测序试点,评估长读长基因组测序(lrGS)的临床落地。

来源:medRxiv 预印本 · medrxiv.org