A pipeline for complete characterization of complex germline rearrangements from long DNA reads

BACKGROUND: Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpo...

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Detalles Bibliográficos
Autores principales: Mitsuhashi, Satomi, Ohori, Sachiko, Katoh, Kazutaka, Frith, Martin C., Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393826/
https://www.ncbi.nlm.nih.gov/pubmed/32731881
http://dx.doi.org/10.1186/s13073-020-00762-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393826/
https://www.ncbi.nlm.nih.gov/pubmed/32731881
http://dx.doi.org/10.1186/s13073-020-00762-1

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