Development of SNP islands and application of SNP islands in genomic analysis


Techniques are provided for locating and validating single-nucleotide polymorphism (SNP) islands by scanning a reference genome. A system scans a reference genome to locate a high-variance region containing at least a minimum number of known impactful SNP locations in less than a maximum length, wherein the high-variance region is flanked by low-variance regions of at least minimum length and each having fewer than a maximum number of known relevant SNP locations. The system allows for tuning maximum and minimum region lengths, maximum and minimum SNP-location quantities, and rate-of-occurrence thresholds that define relevant and/or impactful SNP locations. Primers are designed for portions of the low-variance regions that are unique within the reference genome, wherein the primers amplify for the high-variance region. The primers are used to amplify genetic material samples in order to perform analyses to distinguish sample identity and/or to determine whether a sample corresponds to single or multiple contributors.

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Patent Number: 11,001,880

Date Issued: May 5, 2021