Regeneron Pharmaceuticals. has been granted a patent for methods and systems to detect abnormal karyotypes. The approach involves sequencing samples, generating quality control metrics, and analyzing read coverage data to identify deviations indicative of abnormal karyotypes across chromosomes. GlobalData’s report on Regeneron Pharmaceuticals 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 Regeneron Pharmaceuticals, Transgenic murine models was a key innovation area identified from patents. Regeneron Pharmaceuticals's grant share as of July 2024 was 39%. Grant share is based on the ratio of number of grants to total number of patents.
Detecting abnormal karyotypes using sequencing methods
The patent US12071669B2 outlines a method for analyzing sequencing data from multiple samples to identify abnormal karyotypes. The process begins with sequencing samples and generating sequencing quality control (SQC) metrics that reflect the quality of the sequencing. Using these metrics, the method creates population-scale whole-exome sequencing data and determines read coverage profiles for each chromosome across the samples. The read coverage data is filtered based on guanine-cytosine (GC) content and mappability scores of genomic regions. A linear regression model is then applied to establish an expected exome-wide ratio of read coverage for each chromosome, utilizing the SQC metrics as covariates. Deviations from this expected ratio are calculated to identify potential abnormalities in the karyotype of the samples.
Further refinements in the method include the calculation of residuals from the differences between observed and expected read coverage data, which are then Z-score normalized to assess significance. A p-value is determined to identify significantly large residuals indicative of abnormal karyotypes, with a threshold set at p < 0.05. The method also incorporates outlier detection to enhance the accuracy of abnormal karyotype identification. Additionally, a tier rating can be assigned to the reported abnormalities based on the significance of the deviations. This comprehensive approach aims to improve the reliability of genomic analyses and facilitate the detection of chromosomal abnormalities in a population-scale context.
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