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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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Structural Variants

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

WGS

Structural Variants

Machine Learning

Biomarkers

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

Journal

Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases

P. Sztromwasser, D. Skrzypczak, A. Michalak and W. Fendler

DOI

http://10.3389/fgene.2021.638960

Journal

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

B.B. Johansson, P. Sztromwasser, S.Johansson & P.R. Njolstad et al.

DOI

https://doi.org/10.1007/s00125-016-4167-1

Journal

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathyons regarding using clustering as feature extraction for classification.

I.Flones, P. Sztromwasser, L. A. Bindoff, C. Tzoulis et al.

DOI

https://doi.org/10.1371/journal.pone.0149055