Deconvolution of bulk RNA-seq data using single-cell RNA-seq data as reference
Somatic variant and fusion calling for Illumina cancer panels: DNA (SNVs/indels via GATK) and RNA (gene fusions via STAR + Arriba), with clinical interpretation through PCGR. Panel profiles for 22 kits. Research use only — not a validated diagnostic system.
Targeted long-read transcriptomic profiling pipeline for FFPE tumor samples using Oxford Nanopore sequencing.
Formalin artefact filtering of tumour sample VCF files
Analysis notebooks supporting snPATHO-Seq for single-nucleus RNA profiling of archival FFPE tissue.
Pipeline designed to evalute FFPE processing kits through qc, variant calling, and truth set comparison analysis. Configured for AWS Batch deployment.
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