METHODS AND SYSTEMS FOR ANALYZING NUCLEIC ACID SEQUENCING DATA

摘要

Method includes receiving sequencing data including a plurality of sample reads that have corresponding sequences of nucleotides and assigning the sample reads to designated loci. The method also includes analyzing the assigned reads for each designated locus to identify corresponding regions-of-interest (ROIs) within the assigned reads. Each of the ROIs has one or more series of repeat motifs. The method also includes sorting the assigned reads based on the sequences of the ROIs such that the ROIs with different sequences are assigned as different potential alleles. The method also includes analyzing, for designated loci having multiple potential alleles, the sequences of the potential alleles to determine whether a first allele of the potential alleles is suspected stutter product of a second allele of the potential alleles.