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:
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 disclosure relates to methods for detecting a plurality of target nucleic acids in a plurality of samples comprising providing S samples that will be mixed together prior to assay, where S is an integer greater than 1; separately subjecting each of said S samples to an encoding reaction that produces a set of T tagged target nucleotide sequences, each tagged target nucleotide sequence comprising a sample-specific nucleotide tag and a target nucleotide sequence; wherein T is the number of target nucleic acids to be detected, T being an integer greater than one; mixing together tagged target nucleotide sequences from said S samples to form an assay mixture; dividing the assay mixture into up to S × T amplification mixtures, and separately subjecting each of said amplification mixtures to amplification using a unique pair of amplification primers.
Abstract:
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.
Abstract:
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.
Abstract:
Un método para determinar el número de copias relativo de una secuencia polinucleotídica diana en el genoma de un sujeto, que comprende: preamplificar una secuencia polinucleotídica diana y una secuencia polinucleotídica de referencia en una muestra que contiene ADN genómico del sujeto; ensayar la secuencia polinucleotídica diana y la secuencia polinucleotídica de referencia de la muestra preamplificada mediante una PCR digital; determinar (a) el número de moléculas polinucleotídicas amplificadas que contienen la secuencia polinucleotídica diana, y (b) el número de moléculas polinucleotídicas amplificadas que contienen la secuencia polinucleotídica de referencia, y determinar la proporción de (a) a (b).
Abstract:
La presente invención es concerniente con métodos y sistemas para determinar la variación del número de copia de un polinucleótido objetivo en un genoma de un sujeto, que incluye técnicas a base de amplificación. Los métodos pueden incluir preamplificación de la muestra seguida por distribución de muestra y una pluralidad de volúmenes de reacción, detección cuantitativa de un polinucleótido objetivo y un polinucleótido de referencia y análisis para determinar el número de copia relativo de la secuencia de polinucleotido objetivo en el genoma del sujeto.