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pathogenic-loci

Here are 2 public repositories matching this topic...

sigven / cpsr

Cancer Predisposition Sequencing Reporter (CPSR)

docker cancer workflow-engine vcf cancer-genomics pathogenicity cancer-research report-generator pathogenic-variants germline-variants acmg inherited reporting-tool predisposition cancer-predisposition pathogenic-loci genomics-england-panelapp cancer-predisposition-report

Updated Jan 15, 2025
R

sigven / cacao

Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer

quality-control cancer coverage-report sequencing next-generation-sequencing cancer-genomics alignment quality-assurance command-line-tool bam clinical-decision-support pathogenic-variants sequencing-coverage pathogenic-loci

Updated Dec 8, 2020
R

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