System and method for fading using structural variation identification and variant call data

摘要

Systems and methods for fading using identification of structural mutations and variant call data obtained from nucleic acids of biological samples are provided. Sequence reads are obtained, each sequence read including a portion corresponding to a subset of test nucleic acids and a portion encoding a barcode independent of sequence data. Bin information is acquired. Each bin represents a different part of the sample nucleic acid. Since each bin corresponds to a sequence lead set in a plurality of sequence lead sets formed by sequence reads, each sequence read in each sequence lead set is a subset of nucleic acids for use represented by the bin corresponding to each set Corresponding to The binomial test identifies bin pairs that have more sequence reads with the same common barcode than would be expected by chance. A probability model determines the structural variation likelihood of these bin pair sequence reads. [Selection] Figure 1