Author

Sophie Krieger

InsermORCID 0000-0001-7610-7355Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Akash Kamandula· 1 shared Alexandra MartinsiD· 1 shared Amanda M. WilliamsiD· 1 shared Andrew G. L. DouglasiD· 1 shared Brynja MatthíasardóttiriD· 1 shared Carolina Jaramillo OquendoiD· 1 shared Chiao‐Feng LiniD· 1 shared Claude HoudayeriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Akash Kamandula

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1 paper

Recent·Most cited

BioinformaticsHuman GeneticsPeer-reviewedJan 3, 2024

Predicting the impact of rare variants on RNA splicing in CAGI6

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai…·Diana Baralle

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

11 citations

humanwhole-exome sequencing

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