tools for Structure Variation calling

Gene RearrangementAnalySiS

Detect gene fusion directly from raw fastq files

Prioritize structural variants based on CADD scores

GeneRearrangement AnalySiS

Breakpoints via assembly - Identifies breaks andattempts to assemble rearrangements.

FACTERA is atool for practical and robust de novo enumeration of genomic fusions andbreakpoints from paired-end targeted (or genome-wide) sequencing data. FACTERAhas minimal external dependencies, works directly on a preexisting BAMalignment file, and produces easily interpretable output.

A method to identify structural variation from sequencing data in target regions

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