Author

Stéphanie Meier

University of BaselORCID 0000-0002-8106-4203Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André SchalleriD· 1 shared Andrea Superti‐FurgaiD· 1 shared Anita M. RauchiD· 1 shared Christiane ZweieriD· 1 shared Dennis KraemeriD· 1 shared Dillenn Terumalai· 1 shared Fabienne Maurer· 1 shared Isabel FilgesiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

André SchallerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 11, 2023

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

Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti…·Anita M. Rauch

SwissGenVar is a platform for sharing and interpreting genetic variants to improve clinical decision-making in Switzerland by harmonizing variant significance assessment and integrating clinical data.

DOI 10.1101/2023.01.11.22283790

humanwhole-exome sequencing

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