Abstract: The invention relates to methods and compositions for the detection and quantification of nucleotide sequence variants, such as genetic polymorphisms, with decreased error and increased sensitivity, including single molecule detection. Detection of genetic polymorphisms, including single nucleotide polymorphisms (SNPs), is highly useful for the study of physiology, disease, phylogeny and forensics. Current methods for the detection and identification of nucleic acid sequence variants, such as genetic polymorphisms, lack the sensitivity to accurately detect low incidence mutations, sequence variants or alleles. Detection techniques for highly multiplexed single molecule identification and quantification of analytes using optical systems are disclosed. Analytes include, but are not limited to, nucleic acid, such as DNA and RNA molecules, with and without modifications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. There have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy or polynucleotide sequencing applications.

Abstract: The methods and compositions provided herein relate to the discovery of 13 STR markers, found on the human Y chromosome, having surprisingly high mutation rates when compared with 173 other Y-STR markers known today. The set of RM-Y-STRs may overcome the current dilemma of Y-chromosome analysis in forensic applications due to their extraordinary mutation properties. Embodiments of the invention include methods for allelic determination of rapidly-mutating Y-STR markers, amplification primers for the analysis of rapidly-mutating Y-STR markers, allelic ladders for analysis of rapidly-mutating Y-STR markers, and kits for the analysis of rapidly-mutating Y-STR markers.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. There have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy or polynucleotide sequencing applications.

Abstract: Some embodiments of the methods provided herein relate to amplifying and detecting a target nucleic acid. Some such embodiments include performing a recombinase polymerase amplification (RPA) and, optionally, a second isothermal amplification reaction. In some embodiments, the second isothermal amplification reaction includes loop-mediated isothermal amplification (LAMP). In some embodiments, the second isothermal amplification reaction is performed in conjunction with the RPA. In some embodiments, the second isothermal amplification reaction is performed on amplification products of the RPA. Some embodiments also include detecting the presence of amplification products by measuring a modulation of an electoral signal such as impedance.

Abstract: Embodiments relate to methods, systems and compositions for reducing nonspecific amplification in isothermal amplification reactions. Some embodiments relate to reducing nonspecific amplification in loop-mediated isothermal amplification (LAMP) reactions with certain oligonucleotides.

Abstract: Some embodiments of the systems, devices, kits and methods provided herein relate to amplifying and detecting a target nucleic acid. Some such embodiments include a droplet comprising an aqueous reaction mixture and an oil, and a detection unit. Some embodiments include a passageway or conduit configured to transport the droplet. In some embodiments, the detection unit includes an electric field-generating unit and an electro-sensing element.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. There have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy or polynucleotide sequencing applications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: The methods and compositions provided herein relate to the discovery of 13 STR markers, found on the human Y chromosome, having surprisingly high mutation rates when compared with 173 other Y-STR markers known today. The set of RM-Y-STRs may overcome the current dilemma of Y-chromosome analysis in forensic applications due to their extraordinary mutation properties. Embodiments of the invention include methods for allelic determination of rapidly-mutating Y-STR markers, amplification primers for the analysis of rapidly-mutating Y-STR markers, allelic ladders for analysis of rapidly-mutating Y-STR markers, and kits for the analysis of rapidly-mutating Y-STR markers.

Abstract: The invention relates to methods and compositions for the detection and quantification of nucleotide sequence variants, such as genetic polymorphisms, with decreased error and increased sensitivity, including single molecule detection. Detection of genetic polymorphisms, including single nucleotide polymorphisms (SNPs), is highly useful for the study of physiology, disease, phylogeny and forensics. Current methods for the detection and identification of nucleic acid sequence variants, such as genetic polymorphisms, lack the sensitivity to accurately detect low incidence mutations sequence variants or alleles. Detection techniques for highly multiplexed single molecule identification and quantification of analytes using optical systems are disclosed. Analytes include, but are not limited to, nucleic acid, such as DNA and RNA molecules, with and without modifications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: The methods and compositions provided herein relate to the discovery of 13 STR markers, found on the human Y chromosome, having surprisingly high mutation rates when compared with 173 other Y-STR markers known today. The set of RM-Y-STRs may overcome the current dilemma of Y-chromosome analysis in forensic applications due to their extraordinary mutation properties. Embodiments of the invention include methods for allelic determination of rapidly-mutating Y-STR markers, amplification primers for the analysis of rapidly-mutating Y-STR markers, allelic ladders for analysis of rapidly-mutating Y-STR markers, and kits for the analysis of rapidly-mutating Y-STR markers.

Abstract: Disclosed herein are methods and systems for detection and discrimination of optical signals from a densely packed substrate. These have broad applications for biomolecule detection near or below the diffraction limit of optical systems, including in improving the efficiency and accuracy of polynucleotide sequencing applications.

Abstract: The invention relates to a method for simultaneous quantification of human nuclear DNA and human male DNA in a biological sample while also detecting the presence of PCR inhibitors in a single reaction. The multiplex quantification method also provides a ratio of human nuclear and male DNA present in a biological sample. Such sample characterization is useful for achieving efficient and accurate results in downstream molecular techniques such as genotyping.

Abstract: The invention relates to a method for simultaneous quantification of human nuclear DNA and human male DNA in a biological sample while also detecting the presence of PCR inhibitors in a single reaction. The multiplex quantification method also provides a ratio of human nuclear and male DNA present in a biological sample. Such sample characterization is useful for achieving efficient and accurate results in downstream molecular techniques such as genotyping.