Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2951730/
https://ncbi.nlm.nih.gov/pubmed/20037582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nbt.1600
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