Sophia Genetics has been granted a patent for a method to detect and characterize genomic variant scenarios in patient samples, specifically targeting poly-T and poly-TG tracts of CFTR gene alleles. The method involves comparing patient and control data to select the most likely genomic variant scenario. GlobalData’s report on Sophia Genetics gives a 360-degree view of the company including its patenting strategy. Buy the report here.
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According to GlobalData’s company profile on Sophia Genetics, AI-assisted genome sequencing was a key innovation area identified from patents. Sophia Genetics's grant share as of May 2024 was 18%. Grant share is based on the ratio of number of grants to total number of patents.
Genomic variant detection in cftr gene alleles
A recently granted patent (Publication Number: US11990206B2) outlines a method for detecting and characterizing genomic variant scenarios in cystic fibrosis patients. The method involves obtaining patient and control data sequence reads using next-generation sequencing, measuring probability distributions of repeat patterns, comparing patient and control data, and selecting the closest matching genomic variant scenario. The method also includes estimating joint probability distributions for different genomic variant scenarios and selecting the scenario with the closest comparison to the patient data. The patent emphasizes the importance of accurately characterizing genomic variants in cystic fibrosis patients for effective diagnosis and treatment.
Furthermore, the patent details additional steps such as considering insertions or deletions in alleles, shifting probability distributions for genomic variants, and reporting results through a user interface. The method involves comparing discrete probability distributions, measuring mathematical distances, and calculating Euclidean distances to determine the closest matching genomic variant scenario. By utilizing a genomic data analyzer or a genomic analysis software platform, healthcare professionals can effectively implement this method to identify and characterize genomic variants in cystic fibrosis patients. This patent highlights the significance of advanced genomic analysis techniques in improving the understanding and management of genetic disorders like cystic fibrosis.
To know more about GlobalData’s detailed insights on Sophia Genetics, buy the report here.
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GlobalData Patent Analytics tracks bibliographic data, legal events data, point in time patent ownerships, and backward and forward citations from global patenting offices. Textual analysis and official patent classifications are used to group patents into key thematic areas and link them to specific companies across the world’s largest industries.
