Patent application number | Description | Published |
20120034603 | LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides. | 02-09-2012 |
20120034685 | ASSAY SYSTEMS FOR DETERMINATION OF SOURCE CONTRIBUTION IN A SAMPLE - The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual. | 02-09-2012 |
20120040859 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assays systems and methods for detection of chromosomal abnormalities and status of single loci associated with monogenic or polygenic traits in a sample containing nucleic acids from a maternal and a fetal source. | 02-16-2012 |
20120077185 | DETECTION OF GENETIC ABNORMALITIES AND INFECTIOUS DISEASE - The present invention provides assay systems and related methods for detecting genetic abnormalities and infectious agents in maternal samples. Exemplary maternal samples for analysis using the assay systems of the invention include maternal blood, plasma or serum. | 03-29-2012 |
20120164646 | DETECTION OF GENETIC ABNORMALITIES - The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells. | 06-28-2012 |
20120190018 | ENHANCED RISK PROBABILITIES USING BIOMOLECULE ESTIMATIONS - The present invention provides processes for determining more accurate risk probabilities for medical conditions. The risk probabilities of the presence or absence of a medical condition are calculated using frequency data from selected biomolecules and biomolecule source contribution of at least one source in a mixed sample. | 07-26-2012 |
20120190020 | DETECTION OF GENETIC ABNORMALITIES - The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells. | 07-26-2012 |
20120190021 | DETECTION OF GENETIC ABNORMALITIES - The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells. | 07-26-2012 |
20120190557 | RISK CALCULATION FOR EVALUATION OF FETAL ANEUPLOIDY - The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples. | 07-26-2012 |
20120191358 | RISK CALCULATION FOR EVALUATION OF FETAL ANEUPLOIDY - The present invention provides processes for determining accurate risk probabilities for fetal aneuploidies. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples. | 07-26-2012 |
20130004950 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assays systems and methods for detection of chromosomal abnormalities and status of single loci associated with monogenic or polygenic traits in a sample containing nucleic acids from a maternal and a fetal source. | 01-03-2013 |
20130040375 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual. | 02-14-2013 |
20130089863 | RISK CALCULATION FOR EVALUATION OF FETAL ANEUPLOIDY - The present invention provides processes for determining accurate risk probabilities for fetal aneuploidies. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples. | 04-11-2013 |
20130090250 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assays systems and methods for detection of chromosomal abnormalities and status of single loci associated with monogenic or polygenic traits in a sample containing nucleic acids from a maternal and a fetal source. | 04-11-2013 |
20130122500 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual. | 05-16-2013 |
20130143213 | DETECTION OF GENETIC ABNORMALITIES - The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells. | 06-06-2013 |
20130172211 | LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides. | 07-04-2013 |
20130172212 | LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides. | 07-04-2013 |
20130172213 | LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides. | 07-04-2013 |
20130210640 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual. | 08-15-2013 |
20130261003 | LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation—e.g., the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides—combined with detection of levels of particular genomic regions using array hybridization. | 10-03-2013 |
20130288252 | ASSAY SYSTEMS FOR GENETIC ANALYSIS - The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual. | 10-31-2013 |
20140095136 | MATHEMATICAL NORMALIZATION OF SEQUENCE DATA SETS - The invention provides processes of the present invention provide normalization procedures for sequences within multiplexed data sets using the sequence information from multiplexed sequencing data set itself rather than the utilization of any external references. | 04-03-2014 |