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5 results about "Exome" patented technology

The exome is the part of the genome composed of exons, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing and contribute to the final protein product encoded by that gene. It consists of all DNA that is transcribed into mature RNA in cells of any type, as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population. The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome, or about 30 megabases of DNA. Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease. Exome sequencing has proved to be an efficient strategy to determine the genetic basis of more than two dozen Mendelian or single gene disorders.

Methods and systems for detecting an organ or a tissue impacted by a cancer or a disease, disorder or condition

PCT designated stageWO2026062505A1Microbiological testing/measurementDiseaseOncology
Disclosed herein are methods and systems of determining a cancer status or an organ health status of a subject, the method comprising: obtaining a biological sample obtained or derived from the subject; enriching a population of cells in the biological sample, wherein the population of cells comprises stem cells and / or progenitor cells; extracting nucleic acids from the enriched population of cells; assaying the extracted nucleic acids to generate at least one of a transcriptomic profile of the subject, a genomic profile of the subject, and / or an exomic profile of the subject; computer processing the at least one of the transcriptomic profile of the subject, the genomic profile of the subject, and / or the exomic profile of the subject; and determining, based at least in part on the computer processing, the cancer status or the organ health status of the subject, wherein the cancer status or the organ health status comprises a presence or an absence of an organ and / or a tissue impacted by the cancer or impacted by a disease, disorder, or condition.
Owner:23IKIGAI PTE LTD +2

Personalized vaccine

To provide cancer vaccines based on a replication-defective vaccinia virus such as an MVA expressing antitumor neopeptide fusions, and to provide methods for preparing the same.SOLUTION: The present invention relates to a personalized cancer vaccine comprising a recombinant poxvirus encoding one or more neopeptides, or to a composition comprising such a recombinant poxvirus and a pharmaceutically acceptable vehicle, and to use of the personalized cancer vaccine to treat a cancer subject in need thereof. A particular embodiment is a method for providing the vaccine or composition, comprising the steps of: a) extracting DNA from tumor and non-tumor samples; b) selecting a target region, preferably the entire coding region of the genome (exome); c) sequencing the target region (e.g., the exome) from the extracted DNA; and d) identifying one or more tumor-specific mutations by comparing the DNA sequences obtained from the tumor and non-tumor samples.SELECTED DRAWING: None
Owner:TRANSGENE SA

Compositions and methods of identifying tumor specific neoantigens

Two or more peptides or polypeptides and an adjuvant for use in a method of inducing a tumor specific immune response, wherein the peptides or polypeptides have been identified by a method comprising: identifying a plurality of neoantigenic peptides for preparing a subject-specific immunogenic composition, each neoantigenic peptide comprising a tumor-specific neoepitope comprising a tumor-specific mutation, the method comprising: a. identifying a plurality of subject-specific tumor mutations in expressed genes of a subject having cancer by whole genome or whole exome nucleic acid sequencing of tumor and normal tissue samples from the subject, wherein the mutations are present in the genome of cancer cells of the subject but not in normal tissue from the subject; b. wherein when a mutation identified in step (a) is a point mutation: i. identifying a mutant peptide having the mutation identified in step (a), wherein said mutant peptide comprises a tumor-specific neoepitope which binds to a class I HLA protein with a greater affinity than a wild -type peptide; and has an IC50 less than 500 nm; c. wherein when a mutation identified in step (a) is a splice-site, frameshift, read-through or gene-fusion mutation: i. identifying a mutant polypeptide encoded by the mutation identified in step (a), wherein said mutant polypeptide comprises a tumor-specific neoepitope which binds to a class I HLA protein.
Owner:THE GENERAL HOSPITAL CORP +1