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Related Concept Videos

Effects of EDTA on End-Point Detection Methods01:18

Effects of EDTA on End-Point Detection Methods

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Different methods, such as visual observance of metal-ion indicators, spectroscopic techniques, and potentiometric methods, can determine the endpoint of an EDTA titration.
In the visual method, metal-ion indicators (metallochromic dyes), which have distinct colors in their free and complex forms, are added to the mixture to signal the titration's end point. They form stable complexes with metal ions, but these complexes are weaker than the corresponding metal–EDTA complexes. As a...
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Katdetectr: an R/bioconductor package utilizing unsupervised changepoint analysis for robust kataegis detection.

Daan M Hazelaar1, Job van Riet1,2, Youri Hoogstrate3

  • 1Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center, 3015 GD, Rotterdam, the Netherlands.

Gigascience
|October 17, 2023
PubMed
Summary

Katdetectr is a new R package for detecting genomic hypermutation regions (kataegis) in cancer. It offers robust, fast, and accurate identification, characterization, and visualization of these significant cancer mutation patterns.

Keywords:
BioconductorR-packagecancerchangepoint analysiskataegis

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Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Kataegis describes regional genomic hypermutation in various cancers, characterized by high local mutation rates.
  • Identifying kataegis loci is crucial due to their biological significance and potential clinical relevance in malignancies.

Purpose of the Study:

  • To introduce Katdetectr, an open-source R/Bioconductor package for detecting kataegis loci in genomic data.
  • To provide functionalities for characterizing and visualizing kataegis, facilitating subsequent analyses.

Main Methods:

  • Katdetectr processes standard genomic formats (MAF, VCF, VRanges).
  • It employs unsupervised changepoint analysis using the Pruned Exact Linear Time (PELT) algorithm to identify mutation hotspots.
  • Kataegis calling is performed based on user-defined parameters.

Main Results:

  • Katdetectr demonstrated robustness against varying tumor mutational burden.
  • It achieved the fastest mean computation time compared to other evaluated tools.
  • Katdetectr exhibited superior accuracy (0.99) and Matthews correlation coefficient (0.98) on both synthetic and real cancer datasets.

Conclusions:

  • Katdetectr provides a robust, flexible, and fast workflow for kataegis detection, characterization, and visualization.
  • The package is available on Bioconductor, offering a valuable tool for cancer genomics research.