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Your search keyword '"Meier, Stéphanie"' showing total 13 results
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13 results on '"Meier, Stéphanie"'

1. Serum neurofilament light chain for individual prognostication of disease activity in people with multiple sclerosis: a retrospective modelling and validation study

Author

Aeschbacher, Stefanie, Barakovic, Muhamed, Buser, Andreas, Chan, Andrew, Disanto, Giulio, D'Souza, Marcus, Du Pasquier, Renaud, Findling, Oliver, Galbusera, Riccardo, Hrusovsky, Kevin, Khalil, Michael, Lorscheider, Johannes, Mathias, Amandine, Orleth, Annette, Radue, Ernst-Wilhelm, Rahmanzadeh, Reza, Sinnecker, Tim, Subramaniam, Suvitha, Vehoff, Jochen, Wellmann, Sven, Wuerfel, Jens, Zecca, Chiara, Benkert, Pascal, Meier, Stephanie, Schaedelin, Sabine, Manouchehrinia, Ali, Yaldizli, Özgür, Maceski, Aleksandra, Oechtering, Johanna, Achtnichts, Lutz, Conen, David, Derfuss, Tobias, Lalive, Patrice H, Mueller, Christian, Müller, Stefanie, Naegelin, Yvonne, Oksenberg, Jorge R, Pot, Caroline, Salmen, Anke, Willemse, Eline, Kockum, Ingrid, Blennow, Kaj, Zetterberg, Henrik, Gobbi, Claudio, Kappos, Ludwig, Wiendl, Heinz, Berger, Klaus, Sormani, Maria Pia, Granziera, Cristina, Piehl, Fredrik, Leppert, David, and Kuhle, Jens

Published
2022
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3. SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

Author

Kraemer, Dennis; https://orcid.org/0000-0001-7084-2068, Terumalai, Dillenn, Famiglietti, Maria Livia; https://orcid.org/0000-0002-5283-6593, Filges, Isabel; https://orcid.org/0000-0002-2149-6354, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Koller, Samuel; https://orcid.org/0000-0003-0965-0539, Maurer, Fabienne; https://orcid.org/0000-0002-6837-5963, Meier, Stéphanie, Nouspikel, Thierry; https://orcid.org/0000-0002-6650-9147, Sanz, Javier; https://orcid.org/0000-0001-6386-0313, Zweier, Christiane; https://orcid.org/0000-0001-8002-2020, Abramowicz, Marc; https://orcid.org/0000-0003-0623-8768, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815, Cichon, Sven; https://orcid.org/0000-0002-9475-086X, Schaller, André; https://orcid.org/0000-0001-5174-5764, Superti-Furga, Andrea; https://orcid.org/0000-0002-3543-7531, Barbié, Valérie; https://orcid.org/0009-0006-8085-9393, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Kraemer, Dennis; https://orcid.org/0000-0001-7084-2068, Terumalai, Dillenn, Famiglietti, Maria Livia; https://orcid.org/0000-0002-5283-6593, Filges, Isabel; https://orcid.org/0000-0002-2149-6354, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Koller, Samuel; https://orcid.org/0000-0003-0965-0539, Maurer, Fabienne; https://orcid.org/0000-0002-6837-5963, Meier, Stéphanie, Nouspikel, Thierry; https://orcid.org/0000-0002-6650-9147, Sanz, Javier; https://orcid.org/0000-0001-6386-0313, Zweier, Christiane; https://orcid.org/0000-0001-8002-2020, Abramowicz, Marc; https://orcid.org/0000-0003-0623-8768, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815, Cichon, Sven; https://orcid.org/0000-0002-9475-086X, Schaller, André; https://orcid.org/0000-0001-5174-5764, Superti-Furga, Andrea; https://orcid.org/0000-0002-3543-7531, Barbié, Valérie; https://orcid.org/0009-0006-8085-9393, and Rauch, Anita; https://orcid.org/0000-0003-2930-3163

Abstract

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of the standards used to describe genetic variants and the associated phenotypes when searching for relevant information to support clinical decision making. To address this, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data generated during routine diagnostic procedures and research sequencing projects. Its aim is to provide a protected environment for expert evidence sharing about individual variants to harmonize and upscale their significance interpretation at the clinical grade according to international standards. To corroborate the clinical assessment, the variant-related data will be combined with consented high-quality clinical information. Broader visibility will be achieved by interfacing with international databases, thus supporting global initiatives in personalized healthcare.

Published
2024

5. SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Author

Kraemer, Dennis, Terumalai, Dillenn, Famiglietti, Maria Livia, Filges, Isabel, Joset, Pascal, Koller, Samuel, Maurer, Fabienne, Meier, Stéphanie, Nouspikel, Thierry, Sanz, Javier, Zweier, Christiane, Abramowicz, Marc, Berger, Wolfgang, Cichon, Sven, Schaller, André, Superti-Furga, Andrea, Barbié, Valérie, and Rauch, Anita

Subjects
GENETIC variation, CLINICAL decision support systems, MEDICAL genetics, EXPERT evidence, NUCLEOTIDE sequencing
Abstract

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of the standards used to describe genetic variants and the associated phenotypes when searching for relevant information to support clinical decision making. To address this, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data generated during routine diagnostic procedures and research sequencing projects. Its aim is to provide a protected environment for expert evidence sharing about individual variants to harmonize and upscale their significance interpretation at the clinical grade according to international standards. To corroborate the clinical assessment, the variant-related data will be combined with consented high-quality clinical information. Broader visibility will be achieved by interfacing with international databases, thus supporting global initiatives in personalized healthcare. [ABSTRACT FROM AUTHOR]

Published
2024
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6. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

Author

Kraemer, Dennis; https://orcid.org/0000-0001-7084-2068, Terumalai, Dillenn, Famiglietti, Maria Livia; https://orcid.org/0000-0002-5283-6593, Filges, Isabel; https://orcid.org/0000-0002-2149-6354, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Koller, Samuel; https://orcid.org/0000-0003-0965-0539, Maurer, Fabienne; https://orcid.org/0000-0002-6837-5963, Meier, Stéphanie, Nouspikel, Thierry; https://orcid.org/0000-0002-6650-9147, Sanz, Javier; https://orcid.org/0000-0001-6386-0313, Zweier, Christiane; https://orcid.org/0000-0001-8002-2020, Abramowicz, Marc; https://orcid.org/0000-0003-0623-8768, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815, Cichon, Sven; https://orcid.org/0000-0002-9475-086X, Schaller, André; https://orcid.org/0000-0001-5174-5764, Superti-Furga, Andrea; https://orcid.org/0000-0002-3543-7531, Barbié, Valérie; https://orcid.org/0009-0006-8085-9393, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Kraemer, Dennis; https://orcid.org/0000-0001-7084-2068, Terumalai, Dillenn, Famiglietti, Maria Livia; https://orcid.org/0000-0002-5283-6593, Filges, Isabel; https://orcid.org/0000-0002-2149-6354, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Koller, Samuel; https://orcid.org/0000-0003-0965-0539, Maurer, Fabienne; https://orcid.org/0000-0002-6837-5963, Meier, Stéphanie, Nouspikel, Thierry; https://orcid.org/0000-0002-6650-9147, Sanz, Javier; https://orcid.org/0000-0001-6386-0313, Zweier, Christiane; https://orcid.org/0000-0001-8002-2020, Abramowicz, Marc; https://orcid.org/0000-0003-0623-8768, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815, Cichon, Sven; https://orcid.org/0000-0002-9475-086X, Schaller, André; https://orcid.org/0000-0001-5174-5764, Superti-Furga, Andrea; https://orcid.org/0000-0002-3543-7531, Barbié, Valérie; https://orcid.org/0009-0006-8085-9393, and Rauch, Anita; https://orcid.org/0000-0003-2930-3163

Abstract

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 associated phenotypes when searching for relevant information to inform clinical decision-making. For this purpose, all five Swiss academic Medical Genetics Institutions joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data generated during routine diagnostic procedures and research sequencing projects. Its objective is to provide a protected environment for expert evidence sharing about individual variants to harmonize and up-scale their significance interpretation at clinical grade following international standards. To corroborate the clinical assessment, the variant-related data are combined with consented high-quality clinical information. Broader visibility will be gained by interfacing with international databases, thus supporting global initiatives in personalized health care.

Published
2023

8. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

Author

Kraemer, Dennis, primary, Terumalai, Dillenn, additional, Famiglietti, Maria Livia, additional, Filges, Isabel, additional, Joset, Pascal, additional, Koller, Samuel, additional, Maurer, Fabienne, additional, Meier, Stéphanie, additional, Nouspikel, Thierry, additional, Sanz, Javier, additional, Zweier, Christiane, additional, Abramowicz, Marc, additional, Berger, Wolfgang, additional, Cichon, Sven, additional, Schaller, André, additional, Superti-Furga, Andrea, additional, Barbié, Valérie, additional, and Rauch, Anita, additional

Published
2023
Full Text
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9. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

Author

Kraemer, Dennis, Terumalai, Dillenn, Famiglietti, Maria Livia, Filges, Isabel, Joset, Pascal, Koller, Samuel, Maurer, Fabienne, Meier, Stéphanie, Nouspikel, Thierry, Sanz, Javier, Zweier, Christiane, Abramowicz, Marc, Berger, Wolfgang, Cichon, Sven, Schaller, André, Superti-Furga, Andrea, Barbié, Valérie, Rauch, Anita, and University of Zurich

Subjects
11124 Institute of Medical Molecular Genetics, expert, 10039 Institute of Medical Genetics, NGS, genotype, 570 Life sciences, biology, 610 Medicine & health, personalized medicine, SwissGenVar, Switzerland, curated variant interpretation, national mutation database, phenotype database
Published
2023

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