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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...
Autores principales: | Nord, Alex S, Lee, Ming, King, Mary-Claire, Walsh, Tom |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |
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