Methods and Systems for Genetic Analysis

摘要

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.

主权项

1. A method for analyzing a nucleic acid sample, comprising:
a. producing two or more subsets of nucleic acid molecules from a nucleic acid sample, wherein:
i. the two or more subsets comprise a first subset of nucleic acid molecules and a second subset of nucleic acid molecules, andii. the first subset of nucleic acid molecules differs from the second subset of nucleic acid molecules by one or more features selected from genomic regions, mean GC content, mean molecular size, subset preparation method, or combination thereof; b. conducting one or more assays on at least two of the two or more subsets of nucleic acid molecules, wherein:
i. a first assay, comprising a first sequencing reaction, is conducted on the first subset of the two or more subsets to produce a first result, andii. a second assay is conducted on the second subset of the two or more subsets to produce a second result; and c. combining, with the aid of a computer processor, the first result and second result, thereby analyzing the nucleic acid sample.