Disclosed herein, inter alia, are compositions and methods providing sequencing-efficient solutions for detecting genetic features and aberrations.

Disclosed herein, inter alia, are compositions and methods providing sequencing-efficient solutions for detecting genetic features and aberrations.

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.

This invention relates generally to the field of nucleic acid detection. In particular, the invention provides a lab-on-chip system for analyzing a nucleic acid, which system comprises, inter alia, controllably closed space, and a target nucleic acid can be prepared and/or amplified, and hybridized to a nucleic acid probe, and the hybridization signal can be acquired if desirable, in the controllably closed space without any material exchange between the controllably closed space and the outside environment. Methods for analyzing a nucleic acid using the lab-on-chip system is also provided.

This invention relates generally to the field of nucleic acid detection. In particular, the invention provides a lab-on-chip system for analyzing a nucleic acid, which system comprises, inter alia, controllably closed space, and a target nucleic acid can be prepared and/or amplified, and hybridized to a nucleic acid probe, and the hybridization signal can be acquired if desirable, in the controllably closed space without any material exchange between the controllably closed space and the outside environment. Methods for analyzing a nucleic acid using the lab-on-chip system is also provided.

The present application discloses a method of detecting the methylation of specific genome regions in a DNA fragment from a sample containing DNA. The method includes treating the DNA fragment containing specific genome regions with sodium bisulfite and obtaining single-strand DNA fragment; attaching an adapter to one or both ends of the single-strand DNA fragment; optionally cyclizing the adapter-attached single-strand DNA fragment; preparing the single-strand DNA fragment with attached adapter into a DNA sequencing library containing the specific genome regions; sequencing the DNA sequencing library to identify the sequence of the single-strand DNA fragment. The present application also discloses a kit for detecting the methylation of specific genome regions in a DNA fragment from a sample containing DNA, and the use of single strand ligating agent in preparing a kit for detecting the methylation of specific genome regions in a DNA fragment.

The present application discloses a method of detecting the methylation of specific genome regions in a DNA fragment from a sample containing DNA. The method includes treating the DNA fragment containing specific genome regions with sodium bisulfite and obtaining single-strand DNA fragment; attaching an adapter to one or both ends of the single-strand DNA fragment; optionally cyclizing the adapter-attached single-strand DNA fragment; preparing the single-strand DNA fragment with attached adapter into a DNA sequencing library containing the specific genome regions; sequencing the DNA sequencing library to identify the sequence of the single-strand DNA fragment. The present application also discloses a kit for detecting the methylation of specific genome regions in a DNA fragment from a sample containing DNA, and the use of single strand ligating agent in preparing a kit for detecting the methylation of specific genome regions in a DNA fragment.

Provided are microparticle probes for isolating and detecting nucleic acids to detect target nucleic acids. Each of the microparticle probes includes: a microparticle; capture probes introduced on the surface of the microparticle and including sequences complementary to those of the target nucleic acids; and reporter nucleic acids introduced on the surface of the microparticle and generating signals in response to an external stimulus. Also provided are a kit including the microparticle probes, a method for detecting target nucleic acids, and a multiplex diagnostic method. The microparticle probes of the present invention enable rapid identification of multiple viral infections such as respiratory syncytial virus (RSV), influenza, and coronavirus infections and can be used to accurately determine diseases (infectious diseases) with high sensitivity.

Provided are microparticle probes for isolating and detecting nucleic acids to detect target nucleic acids. Each of the microparticle probes includes: a microparticle; capture probes introduced on the surface of the microparticle and including sequences complementary to those of the target nucleic acids; and reporter nucleic acids introduced on the surface of the microparticle and generating signals in response to an external stimulus. Also provided are a kit including the microparticle probes, a method for detecting target nucleic acids, and a multiplex diagnostic method. The microparticle probes of the present invention enable rapid identification of multiple viral infections such as respiratory syncytial virus (RSV), influenza, and coronavirus infections and can be used to accurately determine diseases (infectious diseases) with high sensitivity.