Author

Anastassija Kotsalaynen

Karolinska Institutet

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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

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Alessio CrippaiD· 1 shared Bram De LaereiD· 1 shared Henrik GrönbergiD· 1 shared Johan LindbergiD· 1 shared Karen A. UrtishakiD· 1 shared Karina Dalsgaard SørenseniD· 1 shared Kavita GargiD· 1 shared Markus MayrhoferiD· 1 shared

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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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