The invention relates to a method for a more appropriate thromboembolic event risk assessment based on the presence of different genetic variant. The invention also relates to a method for determining the risk of suffering a thromboembolism disease by combining the absence or presence of one or more polymorphic markers in a sample from the subject with conventional risk factors for thromboembolism as well as computer-implemented means for carrying out said method.

The detection of the presence of rare somatic mutations from a biological sample is often challenging due to the simultaneous presence of a vast excess of wild-type DNA. The present invention describes methods that would allow the enrichment of mutant DNA by depleting amplifiable wild-type DNA.

The detection of the presence of rare somatic mutations from a biological sample is often challenging due to the simultaneous presence of a vast excess of wild-type DNA. The present invention describes methods that would allow the enrichment of mutant DNA by depleting amplifiable wild-type DNA.

The present invention relates to the field of ribonucleic acid (RNA). More specifically, the present invention provides compositions and methods for highly multiplexed detection of pathogen-associated RNA. In a specific embodiment, a method for forming a target ribonucleic acid (RNA) proxy in a sample comprises the steps of (a) contacting a sample with one or more multi-partite probes that hybridize to a target RNA, wherein the one or more multi-partite probes comprise (i) a target capture probe, (ii) a 3acceptor probe and (iii) a 5 phosphorylated donor probe; (b) incubating the sample of step (a) under conditions that allow hybridization of the one or more multi-partite probes to target RNA present in the sample; (c) immobilizing the target capture probes on a solid support; (d) washing away unbound multi-partite probes; and ligating the acceptor probes and donor probes to form a target RNA proxy.

The present invention relates to the field of ribonucleic acid (RNA). More specifically, the present invention provides compositions and methods for highly multiplexed detection of pathogen-associated RNA. In a specific embodiment, a method for forming a target ribonucleic acid (RNA) proxy in a sample comprises the steps of (a) contacting a sample with one or more multi-partite probes that hybridize to a target RNA, wherein the one or more multi-partite probes comprise (i) a target capture probe, (ii) a 3acceptor probe and (iii) a 5 phosphorylated donor probe; (b) incubating the sample of step (a) under conditions that allow hybridization of the one or more multi-partite probes to target RNA present in the sample; (c) immobilizing the target capture probes on a solid support; (d) washing away unbound multi-partite probes; and ligating the acceptor probes and donor probes to form a target RNA proxy.

Provided herein are methods, compositions, and kits for generating a nucleic acid library. In various embodiments provided herein, transposomes comprising transposases are used in forming dual-end tagged nucleic acid molecules for downstream amplification and nucleic acid molecule processing steps.

Provided herein are methods, compositions, and kits for generating a nucleic acid library. In various embodiments provided herein, transposomes comprising transposases are used in forming dual-end tagged nucleic acid molecules for downstream amplification and nucleic acid molecule processing steps.

Methods and compositions for analyzing a library comprising a plurality of amplicons comprising identifier sequences are provided, for example, a library of amplicons in a cell or tissue sample attached to a solid support. For example, amplicons are sequenced using a polymerase to incorporate a plurality of cognate nucleotides into the sequencing primer or an extension product thereof to generate a plurality of extension products.

Methods and compositions for analyzing a library comprising a plurality of amplicons comprising identifier sequences are provided, for example, a library of amplicons in a cell or tissue sample attached to a solid support. For example, amplicons are sequenced using a polymerase to incorporate a plurality of cognate nucleotides into the sequencing primer or an extension product thereof to generate a plurality of extension products.

A method for investigating intra- and/or intermolecular interactions involving RNA is provided. The method includes a) synthesizing a RNA/DNA heteroduplex (RDH) comprising a RNA strand of interest paired to a DNA strand; b) binding a first end of the DNA strand and a corresponding first end of the RNA strand to a first element of a nanoscale manipulating device, and a second end of the DNA strand to a second element of the nanoscale manipulating device, leaving a second end of the RNA strand free; c) moving the first and second elements of the manipulating device apart from each other, stretching the DNA strand and causing the RNA strand to peel off the heteroduplex; and d) moving the first and second elements of the nanoscale manipulating device towards each other, allowing the DNA strand to relax and causing the RNA strand to bind again to it. Measurement of a force-displacement relationship during steps c) and d) provides information on intra- and/or intermolecular interactions involving the RNA strand. Also provided is an apparatus for carrying out the method.