Method and system for DNA analysis

Abstract

The present invention pertains to a process for automatically analyzing nucleic acid samples. Specifically, the process comprises the steps of forming electrophoretic data of DNA samples with DNA ladders; comparing these data; transforming the coordinates of the DNA sample's data into DNA length coordinates; and analyzing the DNA sample in length coordinates. This analysis is useful for automating fragment analysis and quality assessment. The automation enables a business model based on usage, since it replaces (rather than assists) labor. This analysis also provides a mechanism whereby data generated on different instruments can be confidently compared. Genetic applications of this invention include gene discovery, genetic diagnosis, and drug discovery. Forensic applications include identifying people and their relatives, catching perpetrators, analyzing DNA mixtures, and exonerating innocent suspects.

Description

FIELD OF THE INVENTION The present invention pertains to a process for analyzing a DNA molecule. More specifically, the present invention is related to performing experiments that produce quantitative data, and then analyzing these data to characterize a DNA fragment. The invention also pertains to systems related to this DNA fragment information. BACKGROUND OF THE INVENTION With the advent of high-throughput DNA fragment analysis by electrophoretic separation, many useful genetic assays have been developed. These assays have application to genotyping, linkage analysis, genetic association, cancer progression, gene expression, pharmaceutical development, agricultural improvement, human identity, and forensic science. However, these assays inherently produce data that have signficant error with respect to the size and concentration of the characterized DNA fragments. Much calibration is currently done to help overcome these errors, including the use of in-lane molecular weight siz...

AI Technical Summary

Benefits of technology

"The present invention provides a method for analyzing nucleic acid samples by forming labeled DNA fragments, size separating and detecting them, and transforming the signals into length coordinates. This allows for the accurate analysis of genetic data and the generation of revenue from computer scoring of genetic data. The invention also provides a method for resolving DNA mixtures by obtaining DNA profile data, representing it in a linear equation, and deriving a solution to resolve the DNA mixture."

Problems solved by technology

However, these assays inherently produce data that have signficant error with respect to the size and concentration of the characterized DNA fragments.

In spite of these improvements, the variability of these properties (between different instruments, runs, or lanes) can exceed the desired tolerance of the assays.

One inexact peak area method simply records the area under the curve; this approach does not account for band overlap between different peaks.

However, even with such advanced scoring technology, artifacts can obscure the results.

More importantly, insufficient data calibration can preclude the achievement of very low (e.g., <1%) data error rates, regardless of the scoring methods.

This problem is worse when different instruments are used, or when size separation protocols are not entirely uniform.

The result is that fragments can be incorrectly assigned to allele bins in a way that cannot be corrected without recourse to additional information (e.g., pedigree data) completely outside the STR sizing assay.

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