SV-STAT accurately detects structural variation via alignment to reference-based assemblies

BACKGROUND: Genomic deletions, inversions, and other rearrangements known collectively as structural variations (SVs) are implicated in many human disorders. Technologies for sequencing DNA provide a potentially rich source of information in which to detect breakpoints of structural variations at ba...

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Detalles Bibliográficos
Autores principales: Davis, Caleb F., Ritter, Deborah I., Wheeler, David A., Wang, Hongmei, Ding, Yan, Dugan, Shannon P., Bainbridge, Matthew N., Muzny, Donna M., Rao, Pulivarthi H., Man, Tsz-Kwong, Plon, Sharon E., Gibbs, Richard A., Lau, Ching C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913042/
https://www.ncbi.nlm.nih.gov/pubmed/27330550
http://dx.doi.org/10.1186/s13029-016-0051-0

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