Edoardo Giacopuzzi

icon company Human Technopole icon location Milan, Italy icon location Senior Bioinformatician in the genome analysis unit at Human Technopole. WGS analysis exploring non-coding and the dark side of the genome.

Results 43 comments of Edoardo Giacopuzzi

Clarification on vcf Format in GreenDB Nextflow Pipeline

Hi. When one of the known consequence fields (CSQ, ANN, or BCSQ) is present, GREEN-VARAN updates the corresponding field directly, adding new variant consequences from the GREEN-DB, as in your...

Clarification on vcf Format in GreenDB Nextflow Pipeline

Glad to hear it worked for you. The idea is that the information provided by GREEN-DB is added as additional gene-consequences in the standard variant consequence field provided by either...

Clarification on vcf Format in GreenDB Nextflow Pipeline

I see. Indeed, the new consequences added by GREEN-VARAN should have the same number of fields as the others, as the structure is taken from the header definition. The consequences...