A method of amplifying a telomere of genomic DNA using an adaptor sequence, and a composition and a kit for amplifying the telomere of genomic DNA.

A method of amplifying a telomere of genomic DNA using an adaptor sequence, and a composition and a kit for amplifying the telomere of genomic DNA.

Provided herein are methods and kits for detecting the presence of DNA mutations in the KRAS, BRAF, CTNNB1, and APC genes. The methods and kits employ microcarriers, each with a probe specific for a DNA mutation in the KRAS, BRAF, CTNNB1, or APC gene and an identifier unique to the probe sequence. Upon isolation and amplification of DNA from a sample, hybridization of amplified DNA with a probe, specific for a DNA mutation, that is coupled to a microcarrier indicates the presence of the DNA mutation in the sample. Since each microcarrier can be identified through detection of the identifier, multiplex screening assays for multiple mutations in each of the KRAS, BRAF, CTNNB1, and APC genes are provided.

Provided herein are methods and kits for detecting the presence of DNA mutations in the KRAS, BRAF, CTNNB1, and APC genes. The methods and kits employ microcarriers, each with a probe specific for a DNA mutation in the KRAS, BRAF, CTNNB1, or APC gene and an identifier unique to the probe sequence. Upon isolation and amplification of DNA from a sample, hybridization of amplified DNA with a probe, specific for a DNA mutation, that is coupled to a microcarrier indicates the presence of the DNA mutation in the sample. Since each microcarrier can be identified through detection of the identifier, multiplex screening assays for multiple mutations in each of the KRAS, BRAF, CTNNB1, and APC genes are provided.

In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.

In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.

The present invention relates to a method for the identification of the whole nucleotide sequence of the variable region of the heavy and or light chains of immunoglobulins in a biological sample and the quantification of their relative frequency. The invention is particularly used for the identification of monoclonal heavy and light chains, i.e. tumours, in biological samples from patients suffering from a monoclonal gammapathy.

The present invention relates to a method for the identification of the whole nucleotide sequence of the variable region of the heavy and or light chains of immunoglobulins in a biological sample and the quantification of their relative frequency. The invention is particularly used for the identification of monoclonal heavy and light chains, i.e. tumours, in biological samples from patients suffering from a monoclonal gammapathy.

Provided are methods for high-throughput screening to determine locations of double-stranded DNA breaks (DSBs) and translocations in genomes caused by different agents, such as enzymes.

Provided are methods for high-throughput screening to determine locations of double-stranded DNA breaks (DSBs) and translocations in genomes caused by different agents, such as enzymes.