lexicon

Hi I have noticed that during the production of my reference.cnn (panel of normals), cnvkit is incorrectly allocating female status to the male samples (I have a approximately equal mix...

best practises config

3

Hi. I'm just updating our arriba/fusion pipeline set-up and reassessing our setup for arriba/star alignment configuration. Currently I have used the suggested parameters in the Arriba manual, changing /adding anything...

best practice advice on PON-reference creation & use

1

Our current ‘in-validation’ CNVkit set-up uses a static PON (reference) derived from samples with known ‘normal’ profiles (including removing noisy/true cnv cases via ‘metrics’ and manual visualization/interrogation of data as...