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GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

The identification of genomic rearrangements with high sensitivity and specificity using massively parallel sequencing remains a major challenge, particularly in precision medicine and cancer research. Here, we describe a new method for detecting rearrangements, GRIDSS (Genome Rearrangement IDentifi...

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Detalles Bibliográficos
Autores principales: Cameron, Daniel L., Schröder, Jan, Penington, Jocelyn Sietsma, Do, Hongdo, Molania, Ramyar, Dobrovic, Alexander, Speed, Terence P., Papenfuss, Anthony T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741059/
https://www.ncbi.nlm.nih.gov/pubmed/29097403
http://dx.doi.org/10.1101/gr.222109.117