Patent application number | Description | Published |
20090069194 | COPY NUMBER VARIATION DETERMINATION, METHODS AND SYSTEMS - The present invention methods and systems for determining copy number variation of a target polynucleotide in a genome of a subject including amplification based techniques. Methods can include pre-amplification of the sample followed by distribution of sample and a plurality of reaction volumes, quantitative detection of a target polynucleotide and a reference polynucleotide, and analysis so as to determine the relative copy number of the target polynucleotide sequence in the genome of the subject. | 03-12-2009 |
20090239308 | METHOD AND APPARATUS FOR DETERMINING COPY NUMBER VARIATION USING DIGITAL PCR - A method of estimating a concentration of DNA molecules in a biological sample includes storing a number of a plurality of reaction sites in a memory and distributing the biological sample among the plurality of reaction sites. The method also includes determining a number of the plurality of reaction sites characterized by a presence of one or more of the DNA molecules and computing a portion of the plurality of reaction sites characterized by the presence of the one or more of the DNA molecules. The method further includes estimating the concentration of the DNA molecules as a function of the portion of the plurality of reaction sites and computing a confidence interval for the estimated concentration of DNA molecules. | 09-24-2009 |
20100120038 | ASSAY METHODS FOR INCREASED THROUGHPUT OF SAMPLES AND/OR TARGETS - The present invention provides assay methods that increase the number of samples and/or target nucleic acids that can be analyzed in a single assay. | 05-13-2010 |
20100203538 | DETERMINATION OF COPY NUMBER DIFFERENCES BY AMPLIFICATION - The present invention provides for determining relative copy number difference for one or more target nucleic acid sequences between a test sample and a reference sample or reference value derived therefrom. The methods facilitate the detection of copy number differences less than 1.5-fold. | 08-12-2010 |
20120282604 | Copy Number Variation Determination, Methods and Systems - The present invention methods and systems for determining copy number variation of a target polynucleotide in a genome of a subject including amplification based techniques. Methods can include pre-amplification of the sample followed by distribution of sample and a plurality of reaction volumes, quantitative detection of a target polynucleotide and a reference polynucleotide, and analysis so as to determine the relative copy number of the target polynucleotide sequence in the genome of the subject. | 11-08-2012 |
20130260381 | COPY NUMBER VARIATION DETERMINATION, METHODS AND SYSTEMS - The present invention methods and systems for determining copy number variation of a target polynucleotide in a genome of a subject including amplification based techniques. Methods can include pre-amplification of the sample followed by distribution of sample and a plurality of reaction volumes, quantitative detection of a target polynucleotide and a reference polynucleotide, and analysis so as to determine the relative copy number of the target polynucleotide sequence in the genome of the subject. | 10-03-2013 |
20140154679 | DETERMINATION OF COPY NUMBER DIFFERENCES BY AMPLIFICATION - The present invention provides for determining relative copy number difference for one or more target nucleic acid sequences between a test sample and a reference sample or reference value derived therefrom. The methods facilitate the detection of copy number differences less than 1.5-fold. | 06-05-2014 |
20140154787 | METHOD AND APPARATUS FOR BIOLOGICAL SAMPLE ANALYSIS - A method of adjusting amplification curves in a PCR experiment includes receiving a plurality of amplification curves for a sample and computing a first parameter for each of the plurality of amplification curves. The method also includes computing a second parameter for each of the plurality of amplification curves and computing a third parameter using at least a portion of the first or second parameters. The method further includes computing an offset for each of the plurality of amplification curves. The offset is a function of the first parameter and the third parameter. Moreover, the method includes adjusting at least one of the plurality of amplification curves by subtracting the offset. | 06-05-2014 |
20140186827 | ASSAYS FOR THE DETECTION OF GENOTYPE, MUTATIONS, AND/OR ANEUPLOIDY - The present invention provides amplification-based methods for detection of genotype, mutations, and/or aneuploidy. These methods have broad applicability, but are particularly well-suited to detecting and quantifying target nucleic acids in free fetal DNA present in a maternal bodily fluid sample. | 07-03-2014 |
20140296090 | ASSAY METHODS FOR INCREASED THROUGHPUT OF SAMPLES AND/OR TARGETS - The present invention provides assay methods that increase the number of samples and/or target nucleic acids that can be analyzed in a single assay. | 10-02-2014 |