Abstract: Disclosed is a fluorescent PCR method for detecting HLA-B*15:02 allele and a specific primer probe combination. In the present disclosure, a set of primers and probes are designed based on an HLA-B*15:02 specific SNP gene locus by using TaqMan probe technology, combining another set of primers and probes corresponding to the internal reference gene ?-Actin, and a set of primer probe for non-HLA-B*15:02 genes are designed to detect whether a DNA sample contains an HLA-B*15:02 gene and whether a sample is homozygous or heterozygous. Compared with the similar detection methods in the past, the technical scheme in the present disclosure inherits the advantages of high specificity, high throughput, high resolution, low cost, simple and convenient operation, process controllability and the like of the fluorescent PCR, and may detect whether a sample is homozygous or heterozygous.

Abstract: Disclosed herein, inter alia, are polynucleotides, supports, kits, and methods of use thereof for amplifying, immobilizing, and sequencing polynucleotides.

Abstract: The present disclosure provides, among other things, methods of screening for colorectal cancer, methods of screening for advanced adenoma, methods of screening for the presence of either colorectal cancer or advanced adenoma (or both), and compositions related thereto. In various embodiments, the present disclosure provides methods for colorectal cancer and/or advanced adenoma screening that includes analysis of methylation status of one or more methylation biomarkers, and compositions related thereto. In various embodiments, the present disclosure provides methods for colorectal cancer and/or advanced adenoma screening that include screening methylation status of one or more methylation biomarkers in cfDNA, e.g., in ctDNA. In various embodiments, the present disclosure provides methods for colorectal cancer and/or advanced adenoma screening that include screening methylation status of one or more methylation biomarkers in cfDNA, e.g., in ctDNA, using MSRE-qPCR.

Abstract: One aspect of the invention is a method for amplifying alpha globin genes HBA1, HBA2 and HBA12 in a single PCR tube to determine an HBA genotype of a subject. This method employs five primers selected to accurate and sensitively identify the HBA1, HBA2, and HBA12, a gene found at a higher frequency in citizens of Saudi Arabia, by accurately annealing to nucleic acids in a biological sample and simultaneously amplifying sequences encoding the alpha globin genes. This invention includes a procedure and required reagents for the amplification of alpha globin genes in a single PCR tube.

Abstract: Disclosed herein, inter alia, are polynucleotides, supports, kits, and methods of use thereof for amplifying, immobilizing, and sequencing polynucleotides.

Abstract: A nucleic acid amplification blocker for detecting a low-abundance mutation sequence and an application thereof in detecting a low-abundance mutation sequence are provided. The nucleic acid amplification blocker is an oligonucleotide modified by locked nucleic acid (LNA), and the matching region of the nucleic acid amplification blocker is located between amplified sequences. The nucleic acid amplification blocker is completely complementary to wild-type gene sequence, and contains at least one mismatch with mutant sequence. The nucleic acid amplification blocker has a great difference in affinity with mutant nucleic acid sequence/wild-type nucleic acid sequence, so as to achieve the purpose of highly selective amplification/enrichment of mutant sequence in samples. The nucleic acid amplification blocker has more significant detection effect on deletion mutation and insertion mutation.

Abstract: Provided herein is an antibiotic susceptibility test and related compositions, methods and systems based on detection of a nucleic acid from a target microorganism in a sample in the presence or absence of a lysis treatment of the sample.

Abstract: Disclosed are a nanostructure including a nanoparticle, and a first compound including a probe and bound to the surface of the nanoparticle, a second compound including a DNA sequence encoding the probe and bound to the surface of the nanoparticle, and optionally substituted or unsubstituted polyalkylene glycol bound to the surface of the nanoparticle, wherein when the nanostructure does not include substituted or unsubstituted polyalkylene glycol bound to the surface of the nanoparticle, a ratio ((n1+n2)/w) of the sum of the number of moles (n1) of the first compound and the number of moles (n2) of the second compound relative to the weight (w) of the nanostructure is about 1.2 nmol/g to about 85 ?mol/g on average, a biosensor including the nanostructure, and a method of screening a biological material using the nanostructure or the biosensor.

Abstract: The invention provides in vitro methods of determining whether an individual has a pre-cancer or cancer comprising determining the presence or absence of one or more methylation markers of a methylation marker set in a urine sample of said individual; and determining whether the individual has pre-cancer or cancer based on the detection of the presence or absence of said one or more methylation markers in the urine sample, wherein the presence of said one or more methylation markers indicates that the individual has pre-cancer or cancer. The invention further provides methods for typing pre-cancer or cancer based on the the presence or absence of one or more methylation markers of a methylation marker set in a urine sample.

Abstract: The present disclosure provides methods, sets of substantially complementary double-stranded adapters, and kits for performing nucleic acid sequencing. The substantial complementary double-stranded adapters comprise fully complementary molecular tag regions but one or more mismatches in other regions. Such adapters are ligated to double-stranded target nucleic acids, the obtained ligation products are amplified, and the generated amplification products are sequenced. The methods according to the present disclosure allow both strands of double-stranded target nucleic acids to be sequenced from one end of the target nucleic acids.

Abstract: One embodiment provides methods to identify known and unknown gene fusions by creating a cDNA circle and analyzing the circle cDNA by amplification or sequencing. The circle cDNA is created in two approaches: 1) reverse transcribe a target RNA to cDNA, ligate the 3?end of the cDNA to its 5?end to form a circle cDNA, or 2). ligate the 3?end of target RNA to its 5? end to form a circle RNA, reverse transcribe the RNA to a cDNA, and ligate the cDNA to form a circle cDNA. The circle cDNA is amplified using a primer designed from a known sequence of a wild type target gene by rolling circle amplification or PCR methods. The known or unknown fusion gene sequences in the circle cDNA are amplified and identified by sequencing analysis.

Abstract: Disclosed herein, inter alia, are polynucleotides, supports, kits, and methods of use thereof for amplifying, immobilizing, and sequencing polynucleotides.

Abstract: Aspects of the technology disclosed herein relate to methods of preparing and analyzing nucleic acids. In some embodiments, methods for preparing nucleic acids for sequence analysis (e.g., using next-generation sequencing) are provided herein.

Abstract: Techniques for random access of particular DNA strands from a mixture of DNA strands are described. DNA strands that encode pieces of the same digital file are labeled with the same identification sequence. The identification sequence is used to selectively separate DNA strands that contain portions of the same digital file from other DNA strands. A DNA staple positions DNA strands with the identification sequence adjacent to sequencing adaptors. DNA ligase joins the molecules to create a longer molecule with the region encoding the digital file flanked by sequencing adaptors. DNA strands that include sequencing adaptors are sequenced and the sequence data is available for further analysis. DNA strands without the identification sequence are not joined to sequencing adaptors, and thus, are not sequenced. As a result, the sequencing data produced by the DNA sequencer comes from those DNA strands that included the identification sequence.

Abstract: A method of reducing the abundance of a non-target micro-RNA (miRNA) that is part of a group of miRNAs is provided, including: (a) annealing a complementary region of a blocking nucleic acid to a binding site at a first end of the unwanted miRNA, ligating an adenylated nucleic acid adapter to the group of miRNAs, and performing RT-PCR on group of miRNAs. Kits and compounds for use with the method are also provided.

Abstract: One or more enzymes are used to repair damage in synthetic DNA molecules that encode digital information. The enzymes are included in a repair mixture containing one or more of DNA polymerase, DNA ligase, T4 Endonuclease, Endonuclease IV, Endonuclease VIII, and uracil glycosylase. The repair mixture may also contain one or more of a buffering solution, oxidized nicotinamide adenine dinucleotide (NAD+), and deoxyribose nucleoside triphosphates (dNTPs). The synthetic DNA molecules are incubated with the repair mixture for approximately four hours. Use of the repair solution allows recovery of the digital information from damaged DNA molecules.

Abstract: The technology described herein is directed to methods of determining oligonucleotide sequences, e.g. by enriching target sequences prior to sequencing the sequences.

Abstract: Means and methods for preparing double stranded target DNA molecules for sequencing. In embodiments double stranded backbone DNA molecules comprising 5? and 3? ends are provided that are: ligation compatible with 5? and 3? ends of the target DNA; form a first restriction enzyme recognition site when self-ligated; in a form that enables self-ligation. Methods may comprise providing, if not already present, the target DNA with 5? and 3? ends that are in a form that prevents self-ligation and that are ligation compatible with the backbone DNA 5? and 3? ends. Methods may further comprise ligating the target DNA to the backbone DNA in the presence of a ligase and a first restriction enzyme that cuts the first restriction enzyme recognition site, thereby producing at least one DNA circle comprising a backbone DNA molecule and a target DNA molecule.

Abstract: The invention relates to a method for analyzing the diversity of the catalogue of T and/or B lymphocytes in an individual, based on the amplification, from a sample, of genomic DNA fragments by PCR multi-n-plexes, with n?2, carried out with a combination of at least 3 primers defining at least 2 primer couples, each of which includes a primer specifically hybridizing upstream and/or in a given V or D gene and a primer specifically hybridizing downstream and/or in a given J gene, in order to obtain the amplification of at least two fragments characteristic of two distinct V-J or D-J rearrangements from each primer couple. The invention also relates to the applications of this method, in particular in the treatment follow-up or in the diagnosis and/or prognosis of certain diseases.

Abstract: The subject invention pertains to the rapid amplification and real-time monitoring of nucleic acid sequences at a constant temperature. Specifically, fluorescent or electroactive-labeled loop probes and primers are designed to be specific to identified regions of a target nucleic acid sequences and subsequently amplify and permit the identification of the presence of the target sequence. In this method, a DNA polymerase with no 5? to 3? exonuclease activity is added to extend the primers and probes, while a nicking endonuclease is added to specifically identify the amplified nucleic acid product and cleave the label from the loop probe-extended DNA duplex.