Author

Marja Hakkarainen

University of HelsinkiORCID 0000-0003-3793-4803Unclaimed 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

Atte LahtineniD· 1 shared Caroline Akemi HeckmaniD· 1 shared Esa PitkäneniD· 1 shared Jessica KoskiiD· 1 shared Laura LangohriD· 1 shared Outi KilpivaaraiD· 1 shared Tuulia RäisäneniD· 1 shared Ulla Wartiovaara‐KauttoiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Atte LahtinenORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 23, 2024

Pathogenicity evaluation of coding germline variants identifies rare alleles enriched in hematological patients of a founder population

Jessica Koski, Laura Langohr, Tuulia Räisänen…·Outi Kilpivaara

The paper evaluates germline variants in hematological malignancies using a computational pipeline, identifying pathogenic alleles and enriched variants in CHEK2 and other genes.

1 citation

humanwhole-exome sequencing

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