Author

Marzena Liliana Wojtaszewska

ORCID 0000-0002-8979-2723Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alicja WoźnaiD· 2 shared M DabrowskiiD· 2 shared Paweł SztromwasseriD· 2 shared Paweł ZawadzkiiD· 2 shared Adrian LejmaniD· 1 shared Agnieszka PawlakiD· 1 shared Anna Bodora-Troińska· 1 shared Artur ZaczyńskiiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Alicja WoźnaORCID

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2 papers

Recent·Most cited

The Thousand Polish Genomes Project- a national database of Polish variant allele frequencies

Elżbieta Kaja, Adrian Lejman, Dawid Sielski, Mateusz Sypniewski, Tomasz Gambin, Mateusz Dawidziuk, Tomasz Suchocki, Paweł Golik, Marzena Liliana Wojtaszewska, Magdalena Mroczek, Maria Stępień, Joanna Szyda, Karolina Lisiak-Teodorczyk, Filip Wolbach, Daria Kołodziejska, , Paweł Sztromwasser

The paper describes the creation of a national database of Polish genomic variant allele frequencies using 1,079 whole genomes, identifying rare variants and confirming allele frequencies for known pathogenic variants.

International Journal of Molecular Sciences · Apr 20, 2022Peer-reviewedGenomics

Validation of HER2 status in whole genome sequencing data of breast cancers with AI-driven, ploidy-corrected approach

Marzena Liliana Wojtaszewska, Rafał Stępień, Alicja Woźna, Maciej Piernik, Paweł Sztromwasser, M Dabrowski, Michał Gniot, Sławomir Szymański, Maciej Władysław Socha, Piotr Kasprzak, Rafał Matkowski, Paweł Zawadzki

The paper develops an AI-driven, ploidy-corrected method using whole genome sequencing to accurately determine HER2 status in breast cancer patients.

Molecular Diagnosis & Therapy · Dec 21, 2021Peer-reviewedGenetic & Genomic Medicine