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Breakpoints uncertainty problem
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Mgr. Jan Geryk Ph.D.
Academic staff at Second Faculty of Medicine
9 publications
Publications
publication
Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
2023 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
publication
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Faculty of Science, Second Faculty of Medicine
publication
High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis
2020 |
Second Faculty of Medicine
publication
Body coloration and mechanisms of colour production in Archelosauria: The case of deirocheline turtles
2019 |
Faculty of Science, Second Faculty of Medicine
publication
Modules in the metabolic network of E.coli with regulatory interactions
2013 |
Faculty of Science
publication
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
publication
Algorithm for relatedness prediction on the basis of structural variants
Publication without faculty affiliation
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