Supplementary Data LMNA::NTRK1-Fusion in CRC

BoC50_LMNA_NTRK1 Overview This repository contains: 1) a targeted structural variant (SV) calling pipeline for detecting a LMNA::NTRK1 fusion with at least one exonic breakpoint in Whole Exome Sequencing (WES) data aligned to human genome reference GRCh38. 2) Optical Genome Mapping (OGM) output of RVP and do novo pipelines of the BoC50 OGM analyses filtered against maximum 1% SV frequency in controls of the manufacturer. Results The pipeline identifies a ~736kb interstitial deletion on Chromosome 1 in SRA:SRR10743256. This results in an in-frame fusion between LMNA NM_170707 Exon 10 and NRTK1 NM_002529 Exon 8, chr1:156137704_156873889del