ClassifyCNV: a tool for clinical annotation of copy-number variants
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Updated
Jun 26, 2023 - Python
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 Snakemake workflow to process single samples or cohorts of paired-end sequencing data (WGS or WES) using trim galore/bwa/GATK4/parabricks.
A Shiny interface to filter and identify variants of interest from whole exome data
Analysis code used for Rabadam G, Neely J, et al. JCI Insight, 2024.
Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.
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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