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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

BACKGROUND: Generation of long (>5 Kb) DNA sequencing reads provides an approach for interrogation of complex regions in the human genome. Currently, large-insert whole genome sequencing (WGS) technologies from Pacific Biosciences (PacBio) enable analysis of chromosomal structural variations (SVs...

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Detalles Bibliográficos
Autores principales: Wang, Min, Beck, Christine R, English, Adam C, Meng, Qingchang, Buhay, Christian, Han, Yi, Doddapaneni, Harsha V, Yu, Fuli, Boerwinkle, Eric, Lupski, James R, Muzny, Donna M, Gibbs, Richard A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376517/
https://www.ncbi.nlm.nih.gov/pubmed/25887218
http://dx.doi.org/10.1186/s12864-015-1370-2