Author

Marja Kaarina Puurunen

Framingham Heart StudyORCID 0000-0003-3810-5687Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Anetta UndasiD· 1 shared Antonia Miñano· 1 shared Belén de la Morena‐BarrioiD· 1 shared Frances Lucy RaymondiD· 1 shared Francisco VidaliD· 1 shared Javier CorraliD· 1 shared Jonathan C. StephensiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintAug 28, 2020

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

Belén de la Morena‐Barrio, Jonathan C. Stephens, María Eugenia de la Morena‐Barrio…·Alba Sanchis‐Juan

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

3 citations

humanwhole-genome sequencing

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