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Accurate and exact CNV identification from targeted high-throughput sequence data

BACKGROUND: Massively parallel sequencing of barcoded DNA samples significantly increases screening efficiency for clinically important genes. Short read aligners are well suited to single nucleotide and indel detection. However, methods for CNV detection from targeted enrichment are lacking. We pre...

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Detalles Bibliográficos
Autores principales: Nord, Alex S, Lee, Ming, King, Mary-Claire, Walsh, Tom
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088570/
https://www.ncbi.nlm.nih.gov/pubmed/21486468
http://dx.doi.org/10.1186/1471-2164-12-184