IndraLab

Statements


| 4

sparser
"For example, the COL6A2-USP6 fusion that was initially missed by RNA-seq because of low fusion fragments per million (< 0.1) combined with the absence of COL6A2 or USP6 on the inclusion list. (4) Finally, RNA-seq has a longer turnaround time of 7-21 days compared with more targeted approaches."

sparser
"USP6 rearrangement with a COL6A2USP6 fusion, DNA clustering analysis, and methylation profiling, however, led to the diagnosis of NF ( xref to xref )."

sparser
"In case PMABM000BJK/27, a COL6A2-USP6 fusion was identified in routine diagnostics by targeted RNA-seq (Archer FusionPlex Sarcoma, Invitae, Boulder, CO) but not identified using RNA-seq."

sparser
"We identified for NF known COL6A2USP6 fusion. xref Also, methylation profiling and DNA-clustering analysis were consistent with NF."