US Patent Issued to Illumina on May 5 for "Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)" (California Inventors)

ALEXANDRIA, Va., May 5 -- United States Patent no. 12,619,875, issued on May 5, was assigned to Illumina Inc. (San Diego).

"Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)" was invented by Sofia Kyriazopoulou Panagiotopoulou (Redwood City, Calif.) and Kai-How Farh (Hillsborough, Calif.).

According to the abstract* released by the U.S. Patent & Trademark Office: "We disclose computational models that alleviate the effects of human ascertainment biases in curated pathogenic non-coding variant databases by generating pathogenicity scores for variants occurring in the promoter regions (referred to herein as promoter single nucleotide variants (pSNVs)). We train deep learning networks (referred to h...