AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

The undertaking of large-scale DNA sequencing screens for somatic variants in human cancers requires accurate and rapid processing of traces for variants. Due to their often aneuploid nature and admixed normal tissue, heterozygous variants found in primary cancers are often subtle and difficult to d...

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Detalles Bibliográficos
Autores principales: Dicks, E., Teague, J. W., Stephens, P., Raine, K., Yates, A., Mattocks, C., Tarpey, P., Butler, A., Menzies, A., Richardson, D., Jenkinson, A., Davies, H., Edkins, S., Forbes, S., Gray, K., Greenman, C., Shepherd, R., Stratton, M. R., Futreal, P. A., Wooster, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2007
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947781/
https://www.ncbi.nlm.nih.gov/pubmed/17485433
http://dx.doi.org/10.1093/bioinformatics/btm152
Descripción
Sumario:The undertaking of large-scale DNA sequencing screens for somatic variants in human cancers requires accurate and rapid processing of traces for variants. Due to their often aneuploid nature and admixed normal tissue, heterozygous variants found in primary cancers are often subtle and difficult to detect. To address these issues, we have developed a mutation detection algorithm, AutoCSA, specifically optimized for the high throughput screening of cancer samples.

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