Author

Karen A. Urtishak

Janssen Research & Development (United States)ORCID 0000-0002-5718-4424Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alessio CrippaiD· 1 shared Anastassija Kotsalaynen· 1 shared Bram De LaereiD· 1 shared Henrik GrönbergiD· 1 shared Johan LindbergiD· 1 shared Karina Dalsgaard SørenseniD· 1 shared Kavita GargiD· 1 shared Markus MayrhoferiD· 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 paperGenetic & Genomic Medicine

Alessio CrippaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 4, 2024

Sensitive detection of copy number alterations in samples with low circulating tumor DNA fraction.

Markus Mayrhofer, Rebecka Bergström, Venkatesh Chellappa…·Johan Lindberg

The paper introduces Jumble, an algorithm that improves the sensitivity of detecting copy number alterations in low ctDNA samples, achieving detection limits of 1-2% for amplifications and 4-8% for deletions.

3 citations

whole-genome sequencingstatistical model

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