CNV analysis based on the depth of coverage of Illumina data
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Updated
Dec 12, 2025 - Python
CNV analysis based on the depth of coverage of Illumina data
Human gene annotations for the oncology domain
Virtual gene panel integration for Parkinson's Disease. This workflow collects, filters, and enriches gene panels with genomic features from NCBI, producing ready-to-use BED files.
Integrated analysis of Structural and Copy Number Variants for HTS
Simple perl script to extract mappability from a ROI file
GUI coupled to a local database that centralize all NGS variant data and annotations, and to provide powerful filtering tools that are easily accessible to the biologist.
Multi-task VAE for BRCA cancer detection and PAM50 subtype classification on TCGA/GTEx gene expression, with sparse gene-panel analysis.
Recognize gene panels from raw FASTQ files
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