Fig. 1

Identification of EML4-ALK variants using hybridization capture NGS and DNAfusion. EML4 and ALK localized on chr2 can make a gene fusion. During cell-free DNA (cfDNA), release to the bloodstream the DNA is fragmented into approximately 165 bp fragments. The hybridization capture of ALK fragments will isolate ALK fragments but also EML4-ALK fusion fragments. Paired-end sequencing will generate reads aligning to EML4 and ALK with reads spanning the fusion point becoming soft clipped. DNAfusion detects EML4 reads with a mate in ALK and soft-clipped reads spanning the fusion breakpoint are identified. The bases leading up to the EML4 breakpoint and following the ALK breakpoint are determined. Created with BioRender.com