Author

Vanda Repiská

Medirex Group AcademyORCID 0000-0003-1907-8468Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Jaroslav BudišiD· 1 shared Juraj GazdaricaiD· 1 shared Lucia Krasničanová· 1 shared Natália ForgáčováiD· 1 shared Tatiana Sedláčková· 1 shared Tomáš SzemesiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Jaroslav BudišORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 7, 2023

Optimizing mixed sample analysis as a step to comprehensive desease screening: a pilot study

Lucia Krasničanová, Natália Forgáčová, Tatiana Sedláčková…·Tomáš Szemes

This study optimizes mixed sample analysis for Lynch Syndrome detection, finding that pooling whole blood samples before DNA isolation is cost-effective and detects pathogenic variants at 5% frequency.

DOI 10.1101/2023.11.07.23297590

humanbulk RNA-seq

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