Chromosomal Junction Detection from Whole Genome Sequencing on Formalin-fixed, Paraffin-embedded Tumors.

DNA junctions (DNAJs) frequently impact clinically relevant genes in patient tumors and are important for diagnostic and therapeutic purposes. While routinely screened through fluorescence in situ hybridization assays, such testing only allows the interrogation of single gene regions or known fusion partners. Comprehensive assessment of DNAJs present across the entire genome can only be determined from whole genome sequencing. Structural variance analysis (SVA) from whole genome paired-end sequencing data is, however, frequently restricted to copy number changes without DNAJ detection.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Technical Advance Source Type: research
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