7 results about "RNA splicing" patented technology

Systems and methods for identifying a diagnosis of a cancerous state for a somatic tumor specimen of a subject are provided.SOLUTION: The method receives sequencing information comprising an analysis of a plurality of nucleic acids from a somatic tumor specimen. The method identifies a plurality of features from the sequencing information including two or more of RNA, DNA, RNA splicing, viral, and copy number features. The method provides a first subset of features and a second subset of features from the identified plurality of features as input to a first classifier and a second classifier, respectively. The method generates two or more predictions of cancer status based at least in part on the identified plurality of features from the two or more classifiers. The method combines the two or more predictions with a final classifier to identify a diagnosis of cancer status for the subject's somatic tumor specimen.SELECTED DRAWING: Figure 1

Provided are heterocyclic compounds and related compositions that modulate nucleic acid splicing, as well as methods of use of the compounds for modulating splicing and treating diseases and conditions.

The present invention relates generally to the field of RNA splicing. In particular, the invention relates to splice-switching oligonucleotides (SSOs) configured to alter the splicing of a IL-4Rα pre-mRNA. The invention also relates to a method of exon-skipping wherein the binding of the SSO to a IL-4Rα pre-mRNA induces the exclusion of an exon during splicing of the IL-4Rα pre-mRNA to a IL-4Rα mature mRNA. The invention also relates to the use of SSOs as therapeutic candidates for treating Th2-mediated inflammatory diseases.

The invention relates to the technical field of molecular biology and genetic diagnosis, and particularly discloses an RNA (Ribonucleic Acid) abnormal splicing verification method and a kit, the method comprises the following steps: extracting whole blood RNA and reversely transcribing the whole blood RNA into cDNA (Complementary Deoxyribose Nucleic Acid); the method comprises the following steps: by taking cDNA (complementary deoxyribonucleic acid) as a template, carrying out first-round PCR (polymerase chain reaction) amplification by using an outer primer pair as shown in SEQ ID NO.2 and SEQ ID NO.3, and covering No.17 to No.26 exons of the OTOF gene; carrying out electrophoresis preliminary judgment on an amplification product; after a product is recovered, carrying out a second round of nested PCR amplification by using an inner primer pair as shown in SEQ ID NO.5 and SEQ ID NO.6, and covering the 20th exon, the 20th exon, the 23rd exon and the 23rd exon; and finally, sequencing a second-round amplification product, and comparing a wild type sequence to determine an abnormal mode. The kit comprises the primer pair. The method is directly based on a blood sample, operation is easy and convenient, genome DNA pollution is avoided through the design of the cross-exon primer, and the influence of mutation on RNA splicing can be accurately and specifically revealed.

Described herein is a pharmaceutical composition comprising a small molecule splicing modulator compound that modulates splicing of mRNA, such as pre-mRNA, encoded by genes, and methods of use of the small molecule splicing modulator compounds for modulating splicing and treating diseases and conditions.

The invention discloses an RNA splicing verification method for predictive guidance design and a kit, and belongs to the technical field of molecular biology and genetic diagnosis. The method comprises the following steps: firstly, predicting an abnormal splicing mode possibly caused by specific gene mutation through a bioinformatics tool; then, on the basis of a prediction result, PCR primers are specifically designed, so that abnormal splicing products and normal splicing products can be effectively distinguished; and finally, carrying out experimental verification through RT-PCR and product sequencing. According to the method, the blindness of primer design in traditional verification is overcome, and the detection efficiency and accuracy of complex and tiny splicing abnormity are remarkably improved. The invention also provides a method for verifying the OTOF gene c.3409-11Agt, and a kit for verifying the OTOF gene c.3409- The invention discloses a special primer kit for G mutation.