The present invention will provide a novel technique to evaluate the reliability of the signal indicating the presence of secondary contributor nucleic acids in the analytical data of nucleic acid mix samples containing a small ratio of secondary contributor nucleic acids, such as cffDNA, ctDNA, and ddcfDNA.

Regression analysis is performed on the composite variables and fidelity obtained from linear combination of a numerical group that includes at least the secondary contributor component signal intensity and the secondary contributor component mix rate in the analysis data, and a model function for calculating the fidelity is obtained.

The present invention will provide a novel technique to evaluate the reliability of the signal indicating the presence of secondary contributor nucleic acids in the analytical data of nucleic acid mix samples containing a small ratio of secondary contributor nucleic acids, such as cffDNA, ctDNA, and ddcfDNA.

Regression analysis is performed on the composite variables and fidelity obtained from linear combination of a numerical group that includes at least the secondary contributor component signal intensity and the secondary contributor component mix rate in the analysis data, and a model function for calculating the fidelity is obtained.

Provided herein is a method for sequence analysis that comprises analyzing PCR reactions that each contain different portions of the same sample, wherein at least some of the primer pairs are in more than one PCR reaction and at least one of the PCR reactions contains some but not all of the primer pairs of the other reaction(s).

The technology disclosed directly operates on sequencing data and derives its own feature filters. It processes a plurality of aligned reads that span a target base position. It combines elegant encoding of the reads with a lightweight analysis to produce good recall and precision using lightweight hardware. For instance, one million training examples of target base variant sites with 50 to 100 reads each can be trained on a single GPU card in less than 10 hours with good recall and precision. A single GPU card is desirable because it a computer with a single GPU is inexpensive, almost universally within reach for users looking at genetic data. It is readily available on could-based platforms.

The technology disclosed directly operates on sequencing data and derives its own feature filters. It processes a plurality of aligned reads that span a target base position. It combines elegant encoding of the reads with a lightweight analysis to produce good recall and precision using lightweight hardware. For instance, one million training examples of target base variant sites with 50 to 100 reads each can be trained on a single GPU card in less than 10 hours with good recall and precision. A single GPU card is desirable because it a computer with a single GPU is inexpensive, almost universally within reach for users looking at genetic data. It is readily available on could-based platforms.

This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

The technology relates in part to methods and compositions for analyzing nucleic acid. In some aspects, the technology relates to methods and compositions for generating one or more genotypes.

The technology relates in part to methods and compositions for analyzing nucleic acid. In some aspects, the technology relates to methods and compositions for generating one or more genotypes.

The present invention is directed to methods for detecting a colon cancer, methods for determining whether a colon cancer is stable or progressive, methods for determining a risk for disease relapse, and methods for determining a response by a subject having a colon cancer to a therapy.

Provided is a method for providing, on the basis of genetic marker matching of heterologous organisms, a genetic testing service by using genetic markers of a model organism as genetic markers of a target organism, the method comprising the steps of: selecting at least one genetic marker of a pre-stored model organism; comparing genomic information of the model organism to genomic information of a target organism to be subjected to a genetic testing service, when the selected at least one genetic marker is a previously known genetic marker through pre-analyzed information; and providing a genetic mutation-based genetic report about a target organism on the basis of the results of comparing genomic information of target and model organisms.