Sophia Genetics has been granted a patent for a genomic data analyzer that detects and characterizes genomic variants in cystic fibrosis patients. The method utilizes next-generation sequencing to compare patient and control data, estimating probability distributions of repeat patterns in the CFTR gene to identify variant scenarios. 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 June 2024 was 24%. Grant share is based on the ratio of number of grants to total number of patents.
Genomic variant detection in cystic fibrosis patient samples
The granted patent US11990206B2 outlines a comprehensive method for detecting and characterizing genomic variants in the CFTR gene associated with cystic fibrosis. The method employs next-generation sequencing to obtain genomic data from both patient and control samples, specifically targeting poly-T and poly-TG tracts of CFTR gene alleles. It involves a series of steps that include measuring probability distributions of repeat patterns, comparing patient data with control data, and estimating expected distributions for various genomic variants. The process culminates in selecting the genomic variant scenario that best matches the observed patient data, thereby providing insights into the genetic underpinnings of cystic fibrosis.
Additionally, the patent details the methodology for handling genomic variants, including insertions and deletions, and emphasizes the importance of statistical comparisons to determine the closest match between patient and control distributions. The method also allows for reporting results through a user interface, enhancing its applicability in clinical settings. By utilizing mathematical distance measures, such as Euclidean distance, the method ensures a robust analysis of genomic data, facilitating the identification of specific variants that may contribute to cystic fibrosis pathology. This innovative approach aims to improve the understanding of genetic variations in cystic fibrosis patients, potentially guiding personalized treatment strategies.
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.
