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Homologous Recombination Deficiency score #428

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ericblanc20 opened this issue Aug 22, 2023 · 0 comments · Fixed by #429
Closed

Homologous Recombination Deficiency score #428

ericblanc20 opened this issue Aug 22, 2023 · 0 comments · Fixed by #429
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enhancement New feature or request

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@ericblanc20
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The cancer exome ring trial requires the pipeline to compute a score for homologous recombination deficiency.

The R package scarHRD provides such a score, and it is the software recommended for that purpose by the ring trial organisers.

We are not aware of alternatives to scarHRD, certainly not computing the individual scores (loss of heterozygosity, telomeric allelic imbalances and large scale transitions) together.

However, there are significant drawbacks to scarHRD:

  • The software is only available through github, it is neither in CRAN nor in Bioconductor nor in Bioconda.
  • The software relies on obsolete packages (sequenza and a modified version of the deprecated copynumber Bioconductor package).
  • Documentation and benchmarks are very limited
@ericblanc20 ericblanc20 linked a pull request Aug 22, 2023 that will close this issue
@ericblanc20 ericblanc20 added the enhancement New feature or request label Aug 22, 2023
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