A genomic data processing system can be configured to process next-generation sequencing information. The genomic data processing system described herein can accurately detect mutations in nucleic acid (e.g., cell free DNA (cfDNA) sequence reads associated with plasma nucleic acid samples. The genomic data processing system of the present disclosure also detects microsatellite instability in nucleic acid sequence reads with a higher degree of sensitivity compared to existing genomic data processing systems.

A genomic data processing system can be configured to process next-generation sequencing information. The genomic data processing system described herein can accurately detect mutations in nucleic acid (e.g., cell free DNA (cfDNA) sequence reads associated with plasma nucleic acid samples. The genomic data processing system of the present disclosure also detects microsatellite instability in nucleic acid sequence reads with a higher degree of sensitivity compared to existing genomic data processing systems.

Disclosed are methods and systems for detecting methylation of the Fragile X FMRI gene. In certain embodiments, the DNA is fragmented and then the assay uses methylation-specific immunoprecipitation to separate the genomic DNA into a methylated and an unmethylated fraction. In an embodiment, both fractions, along with the initial unfractionated DNA, are processed in parallel. In certain embodiments, the assay in performed on a plurality of samples using a multiwell plate. After resolution of the PCR products by capillary electrophoresis, a computerized custom calling tool may be used to qualitatively determine methylation status.

Disclosed are methods and systems for detecting methylation of the Fragile X FMRI gene. In certain embodiments, the DNA is fragmented and then the assay uses methylation-specific immunoprecipitation to separate the genomic DNA into a methylated and an unmethylated fraction. In an embodiment, both fractions, along with the initial unfractionated DNA, are processed in parallel. In certain embodiments, the assay in performed on a plurality of samples using a multiwell plate. After resolution of the PCR products by capillary electrophoresis, a computerized custom calling tool may be used to qualitatively determine methylation status.

The present disclosure provides methods for nucleic acid sequence identification. The methods may comprise bringing a plurality of nucleic acid molecules in contact with a reaction mixture including a concentration of nucleotides that results in fractional labeling of the nucleic acid molecules. The methods may comprise starting a next reversibly-terminated, sequencing cycle prior to completion of unblocking of reversible terminators in a previous sequencing cycle.

The present disclosure provides methods for nucleic acid sequence identification. The methods may comprise bringing a plurality of nucleic acid molecules in contact with a reaction mixture including a concentration of nucleotides that results in fractional labeling of the nucleic acid molecules. The methods may comprise starting a next reversibly-terminated, sequencing cycle prior to completion of unblocking of reversible terminators in a previous sequencing cycle.

The present invention provides a method for preparing RNA probes useful for exome sequencing protocols or alternatively a method for the preparation of RNA probes which can be used for the separation of circular such as organelle DNA from nuclear genome.

The present invention provides a method for preparing RNA probes useful for exome sequencing protocols or alternatively a method for the preparation of RNA probes which can be used for the separation of circular such as organelle DNA from nuclear genome.

The present disclosure is related to methods and materials for depleting unwanted RNA species from a nucleic acid sample. In particular, the present disclosure describes how to remove unwanted rRNA, tRNA, mRNA or other RNA species that could interfere with the analysis, manipulation and study of target RNA molecules in a sample.

The present disclosure is related to methods and materials for depleting unwanted RNA species from a nucleic acid sample. In particular, the present disclosure describes how to remove unwanted rRNA, tRNA, mRNA or other RNA species that could interfere with the analysis, manipulation and study of target RNA molecules in a sample.