CNV analysis based on the depth of coverage of Illumina data
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Updated
Jul 1, 2026 - Python
CNV analysis based on the depth of coverage of Illumina data
Human gene annotations for the oncology domain
Integrated analysis of Structural and Copy Number Variants for HTS
Simple perl script to extract mappability from a ROI file
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.
Analysis of sequencing coverage bias in cfDNA relative to matched tumor data from targeted sequencing.
Recognize gene panels from raw FASTQ files
Multi-task VAE for BRCA cancer detection and PAM50 subtype classification on TCGA/GTEx gene expression, with sparse gene-panel analysis.
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.
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