Methods for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information, in particular length of fragments in circulating cell-free nucleic acids and compares the number of counts from fragments with different length.

Provided herein are methods of performing multiplexed real-time quantitative ratiometric regression PCR (qRR-PCR) to determine the fractional abundance of target variants in a population. Related systems and computer program products are also provided.

Provided herein are methods of performing multiplexed real-time quantitative ratiometric regression PCR (qRR-PCR) to determine the fractional abundance of target variants in a population. Related systems and computer program products are also provided.

Nucleic acid reagents and corresponding methods of using the same for monitoring and evaluating nucleic acid extraction and amplification reactions.

Nucleic acid reagents and corresponding methods of using the same for monitoring and evaluating nucleic acid extraction and amplification reactions.

The present invention relates to method for preparing an RNA or DNA sample for a target specific next generation sequencing comprising performing a one-step target enrichment in a single reaction vessel or in a single reaction mixture, as well as a kit for preparing an RNA or DNA sample for next generation sequencing in a one-step target enrichment. Further envisaged is the use of the method or the kit for a rapid virus detection, a rapid leukocyte antigen-associated gene identification or a rapid blood group associated gene identification.

The present invention relates to method for preparing an RNA or DNA sample for a target specific next generation sequencing comprising performing a one-step target enrichment in a single reaction vessel or in a single reaction mixture, as well as a kit for preparing an RNA or DNA sample for next generation sequencing in a one-step target enrichment. Further envisaged is the use of the method or the kit for a rapid virus detection, a rapid leukocyte antigen-associated gene identification or a rapid blood group associated gene identification.

The present disclosure relates to a method for diagnosing Parkinson's disease in which the method includes measuring the expression level of Parkinson's disease-related genes from a subject's nasal mucus sample, a composition for diagnosing Parkinson's disease, and a kit including the same.

The present disclosure provides systems, methods, and apparatus for preparing biological samples (e.g., plasma) for sequencing (e.g., DNA sequencing, e.g., third generation sequencing). Moreover, the present disclosure provides various systems, methods, and apparatus that employ this sample preparation technology in the identification of biomarkers for detection of a disease or condition. For example, in certain embodiments, the biological sample preparation method includes capturing fragments of cell free DNA (cfDNA) with capture probes, converting the captured DNA fragments into circular DNA, and amplifying the circular DNA by performing rolling circle amplification (RCA). In particular, it is presently found that by performing this sample preparation method, it is possible to more successfully distinguish true alterations (e.g., aberrant methylation status and/or genomic mutations) from technical/sequencing artifacts.

The present disclosure provides systems, methods, and apparatus for preparing biological samples (e.g., plasma) for sequencing (e.g., DNA sequencing, e.g., third generation sequencing). Moreover, the present disclosure provides various systems, methods, and apparatus that employ this sample preparation technology in the identification of biomarkers for detection of a disease or condition. For example, in certain embodiments, the biological sample preparation method includes capturing fragments of cell free DNA (cfDNA) with capture probes, converting the captured DNA fragments into circular DNA, and amplifying the circular DNA by performing rolling circle amplification (RCA). In particular, it is presently found that by performing this sample preparation method, it is possible to more successfully distinguish true alterations (e.g., aberrant methylation status and/or genomic mutations) from technical/sequencing artifacts.