Patent application number | Description | Published |
20090075343 | SELECTION OF DNA ADAPTOR ORIENTATION BY NICKING - Aspects described and claimed herein provide methods to insert multiple DNA adaptors into a population of circular target DNAs at defined positions and orientations with respect to one another using nicking reactions. The resulting multi-adaptor constructs are then used in massively-parallel nucleic acid sequencing techniques. | 03-19-2009 |
20090111705 | SELECTION OF DNA ADAPTOR ORIENTATION BY HYBRID CAPTURE - Aspects described and claimed herein provide methods to insert multiple DNA adaptors into a population of circular target DNAs at defined positions and orientations with respect to one another by employing selective capture of defined molecules. The resulting multi-adaptor constructs are then used in massively-parallel nucleic acid sequencing techniques. | 04-30-2009 |
20090111706 | SELECTION OF DNA ADAPTOR ORIENTATION BY AMPLIFICATION - Aspects described and claimed herein provide methods to insert multiple DNA adaptors into a population of circular target DNAs at defined positions and orientations with respect to one another by employing amplification procedures. The resulting multi-adaptor constructs are then used in massively-parallel nucleic acid sequencing techniques. | 04-30-2009 |
20090155793 | APPARATUS FOR HIGH THROUGHPUT SEQUENCING OF NUCLEIC ACIDS - A scalable reaction and detection system for automated high throughput sequencing of nucleic acids involving a combination of chemical processes and observation processes independent of the chemistry processes. Discrete functional units may be configured in a manner that allows the system to interchangeably utilize different sequencing reaction components in conjunction with discrete apparatus components for optical image collection and/or analysis. | 06-18-2009 |
20090263872 | Methods and compositions for preventing bias in amplification and sequencing reactions - The present invention is directed to compositions and methods for nucleic acid identification and detection. Compositions and methods of the present invention include template nucleic acids with stabilizing sequences. The present invention also includes concatemers formed from template nucleic acids that have stabilizing sequences, arrays of such concatemers, as well as methods for identifying and detecting sequences of such concatemers. | 10-22-2009 |
20130244882 | MULTIPLEX NUCLEIC ACID REACTIONS - A method for detecting nucleic acids by (a) providing a sample having target nucleic acids, each nucleic acid having contiguous first, second, and third domains; (b) contacting the sample with probe sets to form hybridization complexes, wherein each probe set includes (i) a first probe having a sequence that is complementary to the first domain; and (ii) a second probe having a sequence substantially complementary to the third domain; (c) extending the first probes along the second domains of the complexes while the complexes are immobilized on a solid support; (d) ligating the extended first probes to the second probes to form templates; (e) amplifying the templates with primers that are complementary to the first and second priming sequences to produce amplicons; and (f) detecting the amplicons on the surface of a nucleic acid array. | 09-19-2013 |
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 |
20120191367 | ASSAY SYSTEMS FOR DETERMINATION OF FETAL COPY NUMBER VARIATION - 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 |
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 |
20130178371 | NONINVASIVE DETECTION OF FETAL ANEUPLOIDY IN EGG DONOR PREGNANCIES - The present invention provides assay systems and methods for determining the percent fetal contribution of cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy. Further provided, are assay systems and methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample using a determined percent fetal cell-free DNA in the sample. | 07-11-2013 |
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 |
20130310262 | NONINVASIVE DETECTION OF ROBERTSONIAN TRANSLOCATIONS - The present invention provides methods for detection of Robertsonian translocations. | 11-21-2013 |
20140024538 | MULTIPLEXED SEQUENTIAL LIGATION-BASED DETECTION OF GENETIC VARIANTS - The present invention provides multiplexed sequential ligation-based analysis of genetic variants in a mixed sample, including copy number variations and single nucleotide polymorphisms. The invention employs the techniques of sequential ligation and amplification. | 01-23-2014 |
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 |
20140242582 | DETECTION OF GENETIC ABNORMALITIES USING LIGATION-BASED DETECTION AND DIGITAL PCR - 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 combined with digital PCR detection. | 08-28-2014 |
20140342940 | Detection of Target Nucleic Acids using Hybridization - The present invention provides detection systems and methods for detection of loci and genomic regions in a sample, including mixed samples, using hybridization to an array. | 11-20-2014 |
20140349859 | DETECTION OF TARGET NUCLEIC ACIDS USING HYBRIDIZATION - The present invention provides detection systems and methods for detection of loci and genomic regions in a sample, including mixed samples, using hybridization to an array. | 11-27-2014 |