Article
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
Nature biotechnology - 1 Jan 2010
Lam Hugo Y K, Mu Xinmeng Jasmine, Stütz Adrian M, Tanzer Andrea, Cayting Philip D, Snyder Michael, Kim Philip M, Korbel Jan O, Gerstein Mark B
Abstract excerpt
Structural variants (SVs) are a major source of human genomic variation; however, characterizing them at nucleotide resolution remains challenging. Here we assemble a library of breakpoints at nucleotide resolution from collating and standardizing ~2,000 published SVs. For each breakpoint, we infer its ancestral state (through comparison to primate genomes) and its mechanism of formation (e.g., nonallelic...
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