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LongAGE: defining breakpoints of genomic structural variants through optimal and memory efficient alignments of long reads

SUMMARY: Defining the precise location of structural variations (SVs) at single-nucleotide breakpoint resolution is a challenging problem due to large gaps in alignment. Previously, Alignment with Gap Excision (AGE) enabled us to define breakpoints of SVs at single-nucleotide resolution; however, AG...

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Pubblicato in:Bioinformatics
Autori principali: Tran, Quang, Abyzov, Alexej
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8128450/
https://ncbi.nlm.nih.gov/pubmed/32777815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa703
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