Publication: SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland
SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland
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Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland (No. 22283790; MedRxiv). https://doi.org/10.1101/2023.01.11.22283790
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Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUS) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of standards used to describe genetic variants and associa
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Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland (No. 22283790; MedRxiv). https://doi.org/10.1101/2023.01.11.22283790
