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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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Detalles Bibliográficos
Autores principales: Tran, Quang, Abyzov, Alexej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8128450/
https://www.ncbi.nlm.nih.gov/pubmed/32777815
http://dx.doi.org/10.1093/bioinformatics/btaa703