Abstract:
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.
Abstract:
The present invention provides methods for selectively enriching a biological sample for short nucleic acids, such as fetal DNA in a maternal sample or apoptic DNA in a biological sample from a cancer patient and for subsequently analyzing the short nucleic acids for genotype, mutation, and/or aneuploidy.
Abstract:
Methods are provided for selective tagging of short nucleic acids comprising a short target nucleotide sequence over longer nucleic acids comprising the same target nucleotide sequence. The methods can involve performing one or two cycles of amplification of a sample comprising long nucleic acids and short nucleic acids, each comprising the same target nucleotide sequence with at least two target-specific primers or primer pairs under suitable annealing conditions, wherein the primer pairs comprise: an inner primer or primer pair that can amplify the target nucleotide sequence on long and short nucleic acids (wherein each inner primer comprises a 5′ nucleotide tag; and an outer primer or primer pair that amplifies the target nucleotide sequence on long nucleic acids, but not on short nucleic acids); whereby the amplification after a second cycle produces at least one tagged target nucleotide sequence that comprises two nucleotide tags, one from each inner primer, with the target nucleotide sequence located between the nucleotide tags.
Abstract:
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.
Abstract:
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.
Abstract:
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. In certain embodiments, an assay method entails separately subjecting S samples to an encoding reaction that produces a set of T tagged target nucleotide sequences, each tagged target nucleotide sequence including a sample-specific nucleotide tag and a target nucleotide sequence. In some embodiments, an assay method entails separately subjecting S samples to an encoding reaction that produces a set of T tagged target nucleotide sequences, each tagged target nucleotide sequence including a first nucleotide tag linked to a target nucleotide sequence, which is linked to a second nucleotide tag. In either case, the tagged target nucleotide sequences from the S samples can be mixed to form an assay mixture and subsequently assayed.
Abstract:
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.
Abstract:
The present invention relates to a molecular probe capable of high sensitivity and high specificity detection of target nucleic acid in a sample. Also disclosed is a detection method using this probe.