Methods for determining absolute genome-wide copy number variations of complex tumors

作者: Aaron Halpern , Krishna Pant

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摘要: Methods for interpreting absolute copy number of complex tumors and determining the a genomic region at detection position target sequence in sample are disclosed. In certain aspects, regions sequenced measurement data coverage is obtained. Sequence bias corrected may be normalized against baseline sample. Hidden Markov Model (HMM) segmentation, scoring, output performed, some embodiments population-based no-calling identification low-confidence also performed. A total value region-specific plurality then estimated.

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