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  • ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data

ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data

https://github.com/imgag/ClinCNV

ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10 samples (recommended amount - 40 since we estimate variances from the data). By "cohort" we mean samples sequenced with the same enrichment kit with approximately the same depth (ie 1x WGS and 30x WGS better be analysed in separate runs of ClinCNV). Of course it is better if your samples were sequenced within the same sequencing facility.