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1. raredisease-2.0 raredisease-2.0 Public

   raredisease-2.0 is a Synapsys pipeline for rare disease analysis. It uses fastp for preprocessing, bwa-mem2 for alignment, MarkDuplicates for duplicate removal, qCBAM for BAM QC, and HaplotypeCalle…

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2. alignment_mardup alignment_mardup Public

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3. alignment alignment Public

   Repository for the alignment module using BWA-MEM2 in the Synapsys project.

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4. postalignment postalignment Public

   The post-alignment module processes aligned data to enhance data quality and perform quality control.

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5. preparereference preparereference Public

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6. snv_annotation snv_annotation Public

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