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1. TMBwes TMBwes Public

   Tumor Burden Analysis for whole Exome Sequencing. optimizes depth cutoff for sensitivity and normalization.

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2. CAVA-dev CAVA-dev Public

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   CAVA (Clinical Annotation of VAriants)

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3. CAVA CAVA Public

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4. SpliceAI SpliceAI Public

   Forked from invitae/SpliceAI

   A deep learning-based tool to identify splice variants

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5. CTRB2_584del CTRB2_584del Public

   Script to call 584bp deletion in exon2 of CTRB2 exome capture kit

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6. mergeGATKHaps mergeGATKHaps Public

   Merge variants that GATK’s Haplotyper and mutect2 calls as Haplotypes with the PID and PGT tags. Creates compound multiple variants for each haplotype. Works/Optimized for multi-sample VCFS (bioban…

   Python