Methods for capturing and characterizing low frequency nucleic acid molecules indicative of diseases such as cancer (e.g. adenomas or early stage cancers) are provided. In some aspects, a low complexity capture technique is combined with a high complexity analytical technique. In some aspects, samples may be analyzed using a digital analysis and/or a single molecule sequencing technique.

Methods for capturing and characterizing low frequency nucleic acid molecules indicative of diseases such as cancer (e.g. adenomas or early stage cancers) are provided. In some aspects, a low complexity capture technique is combined with a high complexity analytical technique. In some aspects, samples may be analyzed using a digital analysis and/or a single molecule sequencing technique.

Methods are provided for determining the methylation status of GC-rich templates. The methods include use of GC reference standards that allow simultaneous characterization of methylation status and CGG repeat length. The methods are useful for detecting genotypes associated with GC-rich repeats, including Fragile X Syndrome.

Methods are provided for determining the methylation status of GC-rich templates. The methods include use of GC reference standards that allow simultaneous characterization of methylation status and CGG repeat length. The methods are useful for detecting genotypes associated with GC-rich repeats, including Fragile X Syndrome.

Methods, compositions and kits are described for resequencing, confirming or verifying Next Generation Sequencing (NGS) results with Sanger Sequencing. These methods are particularly useful for samples having very limited quantities such as formalin-fixed, paraffin-embedded (FFPE), Laser Capture Microdissection (LCM), fine needle biopsies or aspirates.

Methods, compositions and kits are described for resequencing, confirming or verifying Next Generation Sequencing (NGS) results with Sanger Sequencing. These methods are particularly useful for samples having very limited quantities such as formalin-fixed, paraffin-embedded (FFPE), Laser Capture Microdissection (LCM), fine needle biopsies or aspirates.

The present invention provides compositions, apparatuses and methods for detecting one or more nucleic acid targets present in a sample. Methods of the invention include utilizing two or more ligation probes that reversibly bind a target nucleic acid in close proximity to each other and possess complementary reactive ligation moieties. When such probes have bound to the target in the proper orientation, they are able to undergo a spontaneous chemical ligation reaction that yields a ligation product that is directly detected or that is amplified to produce amplicons that are then detected. The present invention also provides methods to stabilize sample RNA so that degradation does not significantly affect the results of the analysis.

The present invention provides compositions, apparatuses and methods for detecting one or more nucleic acid targets present in a sample. Methods of the invention include utilizing two or more ligation probes that reversibly bind a target nucleic acid in close proximity to each other and possess complementary reactive ligation moieties. When such probes have bound to the target in the proper orientation, they are able to undergo a spontaneous chemical ligation reaction that yields a ligation product that is directly detected or that is amplified to produce amplicons that are then detected. The present invention also provides methods to stabilize sample RNA so that degradation does not significantly affect the results of the analysis.

Electrophoretic separation methods and systems for performing the same are provided. The methods and systems find use in a variety of different electrophoretic separation applications, such as sub-cellular Western blotting of single cells.

Provided herein are microfluidic devices that can be configured to generate an electrophoretic flow that is in opposition to a fluid flow through a microcapillary of a microfluidic device provided herein. Also provided herein are methods that include adding an amount of particle to the inlet area of a microfluidic device as provided herein, generating a first fluid flow through a microcapillary of a microfluidic device provided herein; and applying a uniform electric field to the microfluidic device, where the uniform electric field generates an electrophoretic flow that is in opposition to the fluid flow.