Embodiments of a method and/or system can include generating a set of target-associated molecules (e.g., spike-in molecules) associated with one or more biological targets; generating one or more spike-in mixtures based on processing the set of target-associated molecules with one or more samples including the one or more biological targets; performing one or more Sanger sequencing operations on the one or more spike-in mixtures; determining one or more abundance metrics based on chromatogram-related outputs from the one or more Sanger sequencing operations; and/or facilitating characterization of one or more medical conditions based on the one or more abundance metrics.

Embodiments of a method and/or system can include generating a set of target-associated molecules (e.g., spike-in molecules) associated with one or more biological targets; generating one or more spike-in mixtures based on processing the set of target-associated molecules with one or more samples including the one or more biological targets; performing one or more Sanger sequencing operations on the one or more spike-in mixtures; determining one or more abundance metrics based on chromatogram-related outputs from the one or more Sanger sequencing operations; and/or facilitating characterization of one or more medical conditions based on the one or more abundance metrics.

The present specification relates to methods, compositions, and kits for determining the presence of the number of copies of a gene. The present disclosure provides methods and compositions to determine zygosity in transgenic plants, number of transgenes in a plant or animal, karyotyping, determine CNV in human and animal samples, diagnose and detect diseases and conditions that are characterized by having variations in the number of copies of one or more genes.

The present specification relates to methods, compositions, and kits for determining the presence of the number of copies of a gene. The present disclosure provides methods and compositions to determine zygosity in transgenic plants, number of transgenes in a plant or animal, karyotyping, determine CNV in human and animal samples, diagnose and detect diseases and conditions that are characterized by having variations in the number of copies of one or more genes.

A non-specific-binding inhibitor enables, in detection of a target nucleic acid by hybridization, effective inhibition of cross-hybridization between the target nucleic acid and complementary strands of sequences similar thereto, which non-specific-binding inhibitor has a stable quality among production lots, and a hybridization method for nucleic acid uses the inhibitor. The non-specific-binding inhibitor for nucleic acid includes a nucleic acid which has a base length of 2 to 11 bases and in which the content of a guanine base(s) and/or methylated guanine base(s) in the entire base sequence is not less than 70%.

A non-specific-binding inhibitor enables, in detection of a target nucleic acid by hybridization, effective inhibition of cross-hybridization between the target nucleic acid and complementary strands of sequences similar thereto, which non-specific-binding inhibitor has a stable quality among production lots, and a hybridization method for nucleic acid uses the inhibitor. The non-specific-binding inhibitor for nucleic acid includes a nucleic acid which has a base length of 2 to 11 bases and in which the content of a guanine base(s) and/or methylated guanine base(s) in the entire base sequence is not less than 70%.

Methods and compositions for detecting genetic instability using digital amplification assays. The methods may be performed in a set of isolated volumes and generally may involve competitive hybridization of a competitor and a probe/primer with a normal allele and one or more mutant alleles of a microsatellite locus. The competitor may be configured to compete similarly with, or to outcompete, the primer/probe for hybridization with the normal allele. The primer/probe may be configured to outcompete the competitor for hybridization with various mutant alleles of the locus that alter the length of the repetitive sequence by different amounts. Isolated volumes in which the primer/probe outcompetes the competitor may be enumerated, and represent one or more of the mutant alleles. The methods may enable diagnosing microsatellite instability and treating a subject based on the diagnosis.

Methods and compositions for detecting genetic instability using digital amplification assays. The methods may be performed in a set of isolated volumes and generally may involve competitive hybridization of a competitor and a probe/primer with a normal allele and one or more mutant alleles of a microsatellite locus. The competitor may be configured to compete similarly with, or to outcompete, the primer/probe for hybridization with the normal allele. The primer/probe may be configured to outcompete the competitor for hybridization with various mutant alleles of the locus that alter the length of the repetitive sequence by different amounts. Isolated volumes in which the primer/probe outcompetes the competitor may be enumerated, and represent one or more of the mutant alleles. The methods may enable diagnosing microsatellite instability and treating a subject based on the diagnosis.

The present invention relates to the stabilization of micro-RNA molecules. The compositions and methods described herein can advantageously be used for the provision of internal control and standard microRNAs for inclusion into kits, useful for the normalized, relative or absolute quantification of a microRNA in a biological fluid.

The present invention relates to the stabilization of micro-RNA molecules. The compositions and methods described herein can advantageously be used for the provision of internal control and standard microRNAs for inclusion into kits, useful for the normalized, relative or absolute quantification of a microRNA in a biological fluid.