The present invention provides a method of determining integrity and/or quantity of cell free DNA (cfDNA) in a biological sample comprising amplifying target sequences with at least a first primer/probe set and at least a second primer probe/set, amplifying the target sequences of differing lengths, and monitoring for detection of the labels of the oligonucleotide probes, and determining the integrity and/or quantity of the cfDNA based on the level of detection of the label of the oligonucleotide probe from the first primer/probe set compared to the level detection of the label of the oligonucleotide probe from the second primer/probe set. The present invention also provides methods for generating a library with the cfDNA for sequencing and analysis.

Compositions, systems and methods for generating and using internal standard spike-in mixes including a combination of template spikes. Compositions, systems and methods described herein are directed to using the internal standard spike-in mixes to evaluate a set of workflow pipelines to perform differential abundance analyses on a sample containing variations of a target nucleic acid sequence of interest. Compositions, systems and methods described herein are directed to using the internal spike-in mixes to validate results obtained from differential abundance analyses performed on a sample containing variations of a target nucleic acid sequence of interest, where the variations may be of highly variable levels of relative abundance.

Compositions, systems and methods for generating and using internal standard spike-in mixes including a combination of template spikes. Compositions, systems and methods described herein are directed to using the internal standard spike-in mixes to evaluate a set of workflow pipelines to perform differential abundance analyses on a sample containing variations of a target nucleic acid sequence of interest. Compositions, systems and methods described herein are directed to using the internal spike-in mixes to validate results obtained from differential abundance analyses performed on a sample containing variations of a target nucleic acid sequence of interest, where the variations may be of highly variable levels of relative abundance.

The present invention relates to a method for detecting a target nucleic acid, which induces any surrogate target to be amplified in the presence of the target nucleic acid and is useful for molecular diagnosis, prenatal diagnosis, early diagnosis, cancer diagnosis, genetic related diagnosis, genetic trait diagnosis, diagnosis of infectious bacteria, identification of drug-resistant bacteria, forensic medicine, species identification of organisms, and the like.

The present invention relates to a method for detecting a target nucleic acid, which induces any surrogate target to be amplified in the presence of the target nucleic acid and is useful for molecular diagnosis, prenatal diagnosis, early diagnosis, cancer diagnosis, genetic related diagnosis, genetic trait diagnosis, diagnosis of infectious bacteria, identification of drug-resistant bacteria, forensic medicine, species identification of organisms, and the like.

Portable biosurveillance kits for sequencing and sample identification are provided, and techniques for configuring said kits are provided. A system for configuring a kit may receive data representing a first and second set of nucleic acid sequences, and may generate and store first and second indexes representing the respective sets. The system may then use the indexes to identify conserved-signature sequences that satisfy abundance criteria with respect to the first set and sparsity criteria with respect to the second set. The identified conserved-signature sequences may be stored on (or represented in storage on) a portable sequencing and sample-identification kit, which may compare the conserved-signature sequence to a sample sequence in order to identify the sample sequence.

Portable biosurveillance kits for sequencing and sample identification are provided, and techniques for configuring said kits are provided. A system for configuring a kit may receive data representing a first and second set of nucleic acid sequences, and may generate and store first and second indexes representing the respective sets. The system may then use the indexes to identify conserved-signature sequences that satisfy abundance criteria with respect to the first set and sparsity criteria with respect to the second set. The identified conserved-signature sequences may be stored on (or represented in storage on) a portable sequencing and sample-identification kit, which may compare the conserved-signature sequence to a sample sequence in order to identify the sample sequence.

Embodiments of a method and/or system can include generating a set of quality control template (QCT) molecules; determining a set of QCT sequence read clusters based on the set of QCT molecules, such as based on variation regions of the set of QCT molecules; and based on the set of QCT sequence read clusters, determining a sequencing-related parameter, such as a contamination parameter and/or molecule count parameter, associated with the at least one of sequencing library preparation and sequencing.

Embodiments of a method and/or system can include generating a set of quality control template (QCT) molecules; determining a set of QCT sequence read clusters based on the set of QCT molecules, such as based on variation regions of the set of QCT molecules; and based on the set of QCT sequence read clusters, determining a sequencing-related parameter, such as a contamination parameter and/or molecule count parameter, associated with the at least one of sequencing library preparation and sequencing.

Systems, methods, and apparatus are provided for external control testing of an assay system.