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URL: http://sv.gersteinlab.org/breakseq/
Proper Citation: BreakSeq (RRID:SCR_001186)
Description: Software for scanning reads from short-read sequenced genomes against a human breakpoint library to accurately identify structural variants (SVs). The library of breakpoints at nucleotide resolution were assembled from collating and standardizing ~2,000 published structural variants (SVs). For each breakpoint, its ancestral state (through comparison to primate genomes) was inferred and its mechanism of formation (e.g., nonallelic homologous recombination, NAHR).
Abbreviations: BreakSeq
Synonyms: Breakpoint Library and BreakSeq
Resource Type: software resource
Defining Citation: PMID:20037582
Keywords: structural variant, breakpoint, nucleotide, fasta, gff, bowtie, genomic variation, junction mapping, insertion sequence, bio.tools
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