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Publications

Each day our team contributes to the world of discovery and science. It is a vast database of expertise that has a tremendous impact on the world of biotechnology, personalised medicine, genome discovery and cancer treatment.

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DBFE: Distribution-based feature extraction from copy number and structural variants in whole-genome data

M. Piernik, D. Brzezinski, P. Sztromwasser, K. Pacewicz, W. Majer-Burman, M. Gniot, D. Sielski, O. Bryzghalov, A. Wozna, P. Zawadzki

DOI

https://doi.org/10.1093/bioinformatics/btac513

Structural Variants

Machine Learning

Journal

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

E. Kaja, A. Lejman, D. Sielski, M. Sypniewski, T. Gambin, M. Dawidziuk, T. Suchocki, P. Golik, M. Wojtaszewska, M. Mroczek, M. Stepien, J. Szyda, K. Lisiak-Teodorczyk, F. Wolbach, D. Kolodziejska, K. Ferdy, M. Dabrowski, A. Wozna, M. Zytkiewicz, A. Bodora-Troinska, W. Elikowski, Z.J. Krol, A. Zaczynski, A. Pawlak, R. Gil, W. Wierzba, P. Dobosz, K. Zawadzka, P. Zawadzki and P. Sztromwasser

DOI

https://doi.org/10.3390/ijms23094532

Population Genomics

Allele Frequency

Journal

Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach

M.Wojtaszewska, R. Stepien, A. Wozna, M. Piernik, P. Sztromwasser, M. Dabrowski, M. Gniot, S. Szymanski, M. Socha, P. Kasprzak, R. Matkowski & P. Zawadzki

DOI

https://doi.org/10.1007/s40291-021-00571-1

Cancer diagnostics

Journal

1134P Personalized medicine in advanced breast cancer: AI-driven genomic test for CDK4/6 treatment response prediction

P. Zawadzki, A. Wozna, P. Sztromwasser, W. Majer-Burman, R. Stepien, K. Pacewicz, D. Sielski, M. Gniot M. Wojtaszewska, M. Dabrowski, M. Piernik

DOI

https://doi.org/10.1016/j.annonc.2021.08.776

Structural Variants

Machine Learning

Journal

Accuracy of somatic variant detection workflows for whole genome sequencing experiments

R. Jaksik, J. Rosiak, P. Zawadzki, P. Sztromwasser

DOI

https://doi.org/10.1101/2021.06.10.446467

Somatic mutations

Cancer Genomics

Journal

1209P A new, whole-genome-based PARPi profiler (_ALICE) demonstrates unprecedented efficiency in patient selection for PARPi therapy

P. Zawadzki, A. Piotrowska, M. Wojtaszewska, P. Sztromwasser

DOI

https://doi.org/10.1016/j.annonc.2020.08.103

Machine Learning

PARP inhibitors

Journal

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

S. Nik-Zainal, D. Glodzik, G. Thomas & M.R. Stratton et al.

DOI

https://doi.org/10.1038/nature17676

Cancer Genomics

Mutational Signature

Journal

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

M.H. Bailey, D. Glodzik, L. Ding & PCAWG Consortium et al.

DOI

https://doi.org/10.1038/s41467-020-18151-y

Cancer Genomics

Journal

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

N. Shukla, M.F. Levine, D. Glodzik, A.L. Kung & E. Papaemmanuil et al.

DOI

https://doi.org/10.1038/s41467-022-30233-7

Cancer Genomics

Journal

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

J. Staaf, D. Glodzik, A. Borg & S. Nik-Zainal et al.

DOI

https://doi.org/10.1038/s41591-019-0582-4

Cancer Genomics

Journal