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ParMap, an algorithm for the identification of small genomic insertions and deletions in nextgen sequencing data

BACKGROUND: Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and deletions. FINDINGS: Here we describe ParMap, a statist...

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Detalles Bibliográficos
Autores principales: Khiabanian, Hossein, Van Vlierberghe, Pieter, Palomero, Teresa, Ferrando, Adolfo A, Rabadan, Raul
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2897800/
https://www.ncbi.nlm.nih.gov/pubmed/20507604
http://dx.doi.org/10.1186/1756-0500-3-147
Descripción
Sumario:BACKGROUND: Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and deletions. FINDINGS: Here we describe ParMap, a statistical algorithm for the identification of complex genetic variants, such as small insertion and deletions, using partially mapped reads in nextgen sequencing data. CONCLUSIONS: We report ParMap's successful application to the mutation analysis of chromosome X exome-captured leukemia DNA samples.