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METHODS FOR ESTIMATING GENOME-WIDE COPY NUMBER VARIATIONS
METHODS FOR ESTIMATING GENOME-WIDE COPY NUMBER VARIATIONS
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机译:估计全基因组拷贝数变异的方法
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摘要
Methods for determining the copy number of a genomic region at a detection position of a target sequence in a sample are disclosed. Genomic regions of a target sequence in a sample are sequenced and measurement data for sequence coverage is obtained. Sequence coverage bias is corrected and may be normalized against a baseline sample. Hidden Markov Model (HMM) segmentation, scoring, and output are performed, and in some embodiments population-based no-calling and identification of low-confidence regions may also be performed. A total copy number value and region-specific copy number value for a plurality of regions are then estimated.
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