Sigve Nakken

icon indicating a website link https://sigven.github.io icon indicating an email [email protected]

icon company Institute for Cancer Research, Oslo University Hospital / Department of Informatics, University of Oslo icon location Oslo, Norway icon location research scientist - precision cancer medicine // genomics // cancer data science

Results 44 comments of Sigve Nakken

Feature Request - support CNV calls (and ideally SV calls)

Hi Andrew, Thanks for reaching out. I am very much interested in looking into this, as I think you point to a gap among available tools. Although your request is...

Feature Request - support CNV calls (and ideally SV calls)

BTW: here is an example report preview of the forthcoming release, including reference data updates etc: https://www.dropbox.com/scl/fi/93j6o03megarubkrnglio/IMPR-T006_GL_0.cpsr.grch38.html?rlkey=rw7dif1vqqoe0l2hn6za5yy3m&dl=0

Feature Request - support CNV calls (and ideally SV calls)

Hi Andrew, Quick follow-up on this: you have a dummy VCF with CNVs/SVs I can play with? Realize it may be difficult with patient-sensitive stuff, but you might have your...

TCGA sample mapping?

Hi @ritikakundra, Thanks for the response. Considering the > 100 different tumor subtypes/diagnoses within TCGA samples which I pointed to, this mapping was not exactly what I was looking for....