发明名称 Method and system for analysis and error correction of biological sequences and inference of relationship for multiple samples
摘要 In one method embodiment low-coverage genome sequence data for each individual in a group of related individuals is obtained, the alignment of read sequences is determined relative to a reference sequence and to each other in a padded multiple alignment, the relative likelihoods of the observed base calls and quality scores obtained from the set of sequence reads for each individual for each position are determined for possible individual genotypes at that position, the most likely shared genotype between individuals for each position is determined to define a multi-individual consensus for each position, and individual genotypes and confidence levels are imputed to produce an error-corrected genome sequence for each individual.
申请公布号 US2012053845(A1) 申请公布日期 2012.03.01
申请号 US201113095707 申请日期 2011.04.27
申请人 BRUESTLE JEREMY;DREES BECKY;HUNKAPILLAR TIM 发明人 BRUESTLE JEREMY;DREES BECKY;HUNKAPILLAR TIM
分类号 G06F19/18 主分类号 G06F19/18
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