Abstract: The present disclosure provides systems and methods for determining a property of target analyte in a sample. The systems and methods use a sensor assembly comprising plural sensing sites, each of the sensing sites comprising a capture species configured to specifically bind with the same target analyte. Each capture species is different and has a different binding affinity for the target analyte to the capture species on the other of the plural sensing sites.

Abstract: The present invention provides methods and compositions for carrying out nucleic acid sequencing, particularly paired-end sequencing. The methods use concatemeric sequencing templates that can be produced by rolling circle amplification of asymmetric circular nucleic acids having a central double-stranded region comprising a target nucleic acid sequence that is connected at each end to form a circular construct.

Abstract: 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.

Abstract: Embodiments in accordance with the present disclosure are directed to configuring an analyzer apparatus for processing a particular sample-processing cartridge. The analyzer apparatus includes a portable container and sample-specific configuration circuitry. The portable container supports and integrates a sample-processing cartridge and the sample-specific configuration circuitry. The sample-specific configuration circuitry identifies configuration information specific to the sample-processing cartridge and configures the analyzer apparatus for a series of state configurations.

Abstract: Methods for detecting genomic rearrangements are provided. In one embodiment, methods are provided for the use of paired end tags from restriction fragments to detect genomic rearrangements. Sequences from the ends of the fragments are brought together to form ditags and the ditags are detected. Combinations of ditags are detected by an on-chip sequencing strategy that is described herein, using inosine for de novo sequencing of short segments of DNA. In another aspect, translocations are identified by using target specific capture and analysis of the captured products on a tiling array.

Abstract: Embodiments in accordance with the present disclosure are directed to configuring an analyzer apparatus for processing a particular sample-processing cartridge. The analyzer apparatus includes a portable container and sample-specific configuration circuitry. The portable container supports and integrates a sample-processing cartridge and the sample-specific configuration circuitry. The sample-specific configuration circuitry identifies configuration information specific to the sample-processing cartridge and configures the analyzer apparatus for a series of state configurations.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.

Abstract: 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.