ClassifyCNV: a tool for clinical annotation of copy-number variants
Functions for working with the Human Phenotype Ontology data
Docker containers used by cancer-seq-pipeline.
Docker container to download dbNSFP 'database' and wrangle it into a format suitable for pipeline annotation process
A Shiny interface to filter and identify variants of interest from whole exome data
Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.
A Snakemake workflow to process single samples or cohorts of paired-end sequencing data (WGS or WES) using trim galore/bwa/GATK4/parabricks.
Analysis code used for Rabadam G, Neely J, et al. JCI Insight, 2024.
A Snakemake workflow to filter, annotate and prepare variant call format (VCF) data for scout using GATK4, SnpSift, VEP and genmod. Designed to be used after human_genomics_pipeline.
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