Patent classifications
C12Q2565/627
System that generates pharmacokinetic analyses of oligonucleotide total effects from full-scan mass spectra
System that automates analysis of mass spectrometry data for oligonucleotides to generate pharmacokinetic parameters and models. A user inputs an oligonucleotide sequence and a maximum number of nucleotides that may be lost during metabolism while retaining therapeutic effectiveness. The system calculates the possible active metabolites and develops a mass spectrum filter for the mass-to-charge ratio of ions for these metabolites. Full-scan spectra are analyzed to calculate the total concentration of these active molecules present in a time series of samples. Pharmacokinetic models and parameters are calculated from the time series of total concentration. Because full-scan spectra are captured, assumptions may be modified and analyses may be quickly rerun without collecting additional data. Overall pharmacokinetic analysis is therefore much more streamlined and efficient, reducing cost, delay, and the need for a mass spectrometrist who is highly skilled in spectral analysis.
System that generates pharmacokinetic analyses of oligonucleotide total effects from full-scan mass spectra
System that automates analysis of mass spectrometry data for oligonucleotides to generate pharmacokinetic parameters and models. A user inputs an oligonucleotide sequence and a maximum number of nucleotides that may be lost during metabolism while retaining therapeutic effectiveness. The system calculates the possible active metabolites and develops a mass spectrum filter for the mass-to-charge ratio of ions for these metabolites. Full-scan spectra are analyzed to calculate the total concentration of these active molecules present in a time series of samples. Pharmacokinetic models and parameters are calculated from the time series of total concentration. Because full-scan spectra are captured, assumptions may be modified and analyses may be quickly rerun without collecting additional data. Overall pharmacokinetic analysis is therefore much more streamlined and efficient, reducing cost, delay, and the need for a mass spectrometrist who is highly skilled in spectral analysis.
Enzymatic RNA Capping Method
Provided herein is a method for efficiently capping RNA in vitro. In some embodiments the capping reaction may be done at high temperature using Vaccinia capping enzyme or a variant thereof. In other embodiments, the capping reactions may comprise a capping enzyme from a large virus of amoeba, e.g., Faustovirus, mimivirus or moumouvirus, or a variant thereof. Compositions and kits for practicing the method are also provided.
Enzymatic RNA Capping Method
Provided herein is a method for efficiently capping RNA in vitro. In some embodiments the capping reaction may be done at high temperature using Vaccinia capping enzyme or a variant thereof. In other embodiments, the capping reactions may comprise a capping enzyme from a large virus of amoeba, e.g., Faustovirus, mimivirus or moumouvirus, or a variant thereof. Compositions and kits for practicing the method are also provided.
METHOD AND SYSTEM FOR USE IN DIRECT SEQUENCING OF RNA
The present disclosure relates generally to systems and methods for determining an order of nucleotides of an RNA molecule. The method includes receiving liquid chromatography-mass-spectrometry (LC-MS) data of an RNA sample, filtering the LC-MS data based on mass, the filtering including removing masses smaller than a predetermined size, analyzing the filtered LC-MS data, to determine a plurality of RNA sequences, and reading-out an RNA sequence after determining no remaining valid nucleotides in the remaining LC-MS data. Analyzing the filtered LC-MS data includes determining a mass difference between at least two adjacent ladder fragments, and determining whether the mass difference is equal to a canonical nucleotide, or a modified nucleotide. The LC-MS data including a mass, retention time (RT), and volume. The RNA sequence including a sequence of each identified canonical nucleotide and any identified modified nucleotides.
METHOD AND SYSTEM FOR USE IN DIRECT SEQUENCING OF RNA
The present disclosure relates generally to systems and methods for determining an order of nucleotides of an RNA molecule. The method includes receiving liquid chromatography-mass-spectrometry (LC-MS) data of an RNA sample, filtering the LC-MS data based on mass, the filtering including removing masses smaller than a predetermined size, analyzing the filtered LC-MS data, to determine a plurality of RNA sequences, and reading-out an RNA sequence after determining no remaining valid nucleotides in the remaining LC-MS data. Analyzing the filtered LC-MS data includes determining a mass difference between at least two adjacent ladder fragments, and determining whether the mass difference is equal to a canonical nucleotide, or a modified nucleotide. The LC-MS data including a mass, retention time (RT), and volume. The RNA sequence including a sequence of each identified canonical nucleotide and any identified modified nucleotides.
Genes and SNP Markers Associated With Lint Percentage Trait In Cotton, And Use Thereof
The present invention discloses genes and SNP markers significantly associated with lint percentage trait in cotton, and use thereof. The genes significantly associated with the lint percentage trait in cotton are genes Gh_D05G1124, Gh_D05G0313, and GhWAKL3. In the present invention, a CottonSNP63K gene array is used for genotyping, and genome re-sequencing data are analyzed to identify SNP markers significantly associated with the lint percentage trait in cotton. Moreover, the present invention also discloses use of the genes and SNP markers, which are significantly associated with the lint percentage trait in cotton, in cotton germplasm identification, breeding, or genetic diversity analysis.
SYSTEM THAT GENERATES PHARMACOKINETIC ANALYSES OF OLIGONUCLEOTIDE TOTAL EFFECTS FROM FULL-SCAN MASS SPECTRA
System that automates analysis of mass spectrometry data for oligonucleotides to generate pharmacokinetic parameters and models. A user inputs an oligonucleotide sequence and a maximum number of nucleotides that may be lost during metabolism while retaining therapeutic effectiveness. The system calculates the possible active metabolites and develops a mass spectrum filter for the mass-to-charge ratio of ions for these metabolites. Full-scan spectra are analyzed to calculate the total concentration of these active molecules present in a time series of samples. Pharmacokinetic models and parameters are calculated from the time series of total concentration. Because full-scan spectra are captured, assumptions may be modified and analyses may be quickly rerun without collecting additional data. Overall pharmacokinetic analysis is therefore much more streamlined and efficient, reducing cost, delay, and the need for a mass spectrometrist who is highly skilled in spectral analysis.
SYSTEM THAT GENERATES PHARMACOKINETIC ANALYSES OF OLIGONUCLEOTIDE TOTAL EFFECTS FROM FULL-SCAN MASS SPECTRA
System that automates analysis of mass spectrometry data for oligonucleotides to generate pharmacokinetic parameters and models. A user inputs an oligonucleotide sequence and a maximum number of nucleotides that may be lost during metabolism while retaining therapeutic effectiveness. The system calculates the possible active metabolites and develops a mass spectrum filter for the mass-to-charge ratio of ions for these metabolites. Full-scan spectra are analyzed to calculate the total concentration of these active molecules present in a time series of samples. Pharmacokinetic models and parameters are calculated from the time series of total concentration. Because full-scan spectra are captured, assumptions may be modified and analyses may be quickly rerun without collecting additional data. Overall pharmacokinetic analysis is therefore much more streamlined and efficient, reducing cost, delay, and the need for a mass spectrometrist who is highly skilled in spectral analysis.
Mutations associated with cystic fibrosis
The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.