Illumina, Inc.
GENOME SEQUENCING AND DETECTION TECHNIQUES

Abstract:

A nucleic acid sequencing technique is described. Sequence data, e.g., generated by a sequencing device, may be analyzed to scan k-mers of a fixed size n in individual reads in the sequence data. Exact matches of the k-mers in the sequence data with reference k-mers are identified. The number of exact matches, their distribution in a reference genome, and/or a number of sequence reads in the sequence data that map to different target regions can be used to determine a characteristic of a sample. In one example, the characteristic is a presence of a pathogen in the sample.