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Top 3 pathogenic-variants open source projects

Cancer Predisposition Sequencing Reporter (CPSR)

pathoscore evaluates variant pathogenicity tools and scores.

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python shell HTML variants score vcfanno pathogenic-variants

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

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r python Dockerfile shell 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

1-3 of 3 pathogenic-variants projects