Detection of structural variants and indels within exome data.
Nat Methods
; 9(2): 176-8, 2011 Dec 18.
Article
en En
| MEDLINE
| ID: mdl-22179552
ABSTRACT
We report an algorithm to detect structural variation and indels from 1 base pair (bp) to 1 Mbp within exome sequence data sets. Splitread uses one end-anchored placements to cluster the mappings of subsequences of unanchored ends to identify the size, content and location of variants with high specificity and sensitivity. The algorithm discovers indels, structural variants, de novo events and copy number-polymorphic processed pseudogenes missed by other methods.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Exoma
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Nat Methods
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos