Methods and materials for detection of aneuploidy and other chromosomal abnormalities using fetal tissue are disclosed. Results can be obtained rapidly, without cell culture. The method uses digital PCR for amplification and detection of single target sequences, allowing an accurate count of a specific chromosome or chromosomal region. Specific polynucleic acid primers and probes are disclosed for chromosomes 1, 13, 18, 21, X and Y. These polynucleic acid sequences are chosen to be essentially invariant between individuals, so the test is not dependent on sequence differences between fetus and mother.

This disclosure provides methods for determining relative abundance of one or more non-host species in a sample from a host. Also provided are methods involving addition of known concentrations of synthetic nucleic acids to a sample and performing sequencing assays to identify non-host species such as pathogens. Also provided are methods of tracking samples, tracking reagents, and tracking diversity loss in sequencing assays.

This disclosure provides methods for determining relative abundance of one or more non-host species in a sample from a host. Also provided are methods involving addition of known concentrations of synthetic nucleic acids to a sample and performing sequencing assays to identify non-host species such as pathogens. Also provided are methods of tracking samples, tracking reagents, and tracking diversity loss in sequencing assays.

Methods are provided for correction of amplification bias and quantitation of adaptive immune cells in a sample using synthetic templates that include random oligonucleotide sequences.

Methods are provided for correction of amplification bias and quantitation of adaptive immune cells in a sample using synthetic templates that include random oligonucleotide sequences.

The present invention generally pertains to methods and kits for managing the variation in spectroscopic intensity measurements through the use of a reference component. The reference component may comprise a reference spectroscopic substance and may be contained together with a sample of interest in a sample to be tested, wherein the sample of interest may comprise a sample spectroscopic substance. Each sample to be tested may be uniquely identified and, hence, “barcoded” by combinations of different colors and concentrations of spectroscopic substances, contained therein.

The present invention generally pertains to methods and kits for managing the variation in spectroscopic intensity measurements through the use of a reference component. The reference component may comprise a reference spectroscopic substance and may be contained together with a sample of interest in a sample to be tested, wherein the sample of interest may comprise a sample spectroscopic substance. Each sample to be tested may be uniquely identified and, hence, “barcoded” by combinations of different colors and concentrations of spectroscopic substances, contained therein.

Compositions, kits, and methods are provided for the normalization of a quantitative polymerase chain reaction (PCR) amplification. Also provided are compositions, kits, and methods for multiplexing qPCR amplification of two or more target nucleic acids in the same well.

Compositions, kits, and methods are provided for the normalization of a quantitative polymerase chain reaction (PCR) amplification. Also provided are compositions, kits, and methods for multiplexing qPCR amplification of two or more target nucleic acids in the same well.

A real-time quantitative PCR assay that utilizes a duplex, synthetic DNA standard to ensure optimal quality assurance and quality control. One embodiment of the invention facilitates amplification of mtDNA by focusing on a 105-base pair target sequence that is minimally homologous to non-human mtDNA. The present invention can also be used to identify the presence of PCR inhibitors and thus indicate the need for sample repurification.