Myriad Genetics has been granted a patent for a method to identify and quantify copy number variations in a gene of interest from a genomic DNA sample. The method involves fragmenting DNA, isolating target fragments, sequencing, aligning to a reference sequence, and performing a breakpoint analysis to detect variations. GlobalData’s report on Myriad 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 Myriad Genetics, Personalized medicine biomarkers was a key innovation area identified from patents. Myriad Genetics's grant share as of May 2024 was 25%. Grant share is based on the ratio of number of grants to total number of patents.
Method for identifying and quantifying copy number variations in genes
A recently granted patent (Publication Number: US11993811B2) outlines a method for identifying and quantifying copy number variations in a gene of interest from a genomic DNA sample. The method involves fragmenting the DNA sample, isolating target polynucleotide fragments using breakpoint probes, sequencing these fragments, aligning them to a reference sequence, calculating read depths and copy number likelihoods, and performing a breakpoint analysis to identify sequence variations. The system includes a next-generation sequencing device, alignment module, read depth module, breakpoint module, and copy number module, all working together to accurately detect copy number variations in the target gene.
Furthermore, the patent describes additional features such as partitioning fragment sequences to the target gene or its homolog, aligning sequences to reference sequences, and using capture probes for hybridization. The method also involves determining the likelihood of different types of sequence variations, including deletions, insertions, inversions, translocations, interchanges, and fusions, between selected breakpoint regions of the target gene. By correcting the copy number likelihoods based on these variations, the system can make more accurate calls on copy number variations in the gene. Overall, this patented method and system provide a comprehensive approach to identifying and quantifying copy number variations in genes, offering potential applications in genetic research and diagnostics.
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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.
