Methods and systems for genomic analysis
Inventors
Harris, Jason • Pratt, Mark R. • West, John • Chen, Richard • Li, Ming
Assignees
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Publication Number
US-11456058-B2
Publication Date
2022-09-27
Expiration Date
Abstract
A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.
Core Innovation
The disclosure provides a method for genetic analysis of a subject that combines an untargeted sequencing reaction and a target-specific sequencing reaction to produce sequencing data sets that are analyzed together. A first nucleic acid sample of the subject is subjected to an untargeted sequencing reaction to generate a first set of sequencing data.
A second nucleic acid sample of the subject is subjected to a target-specific sequencing reaction to generate a second set of sequencing data, and the second nucleic acid sample comprises nucleic acid molecules enriched based on methylation status. The methylation-enriched, target-specific sequencing data is combined with the untargeted sequencing data.
A computer generates a biomedical report based on the first set of sequencing data and the second set of sequencing data. The biomedical report predicts, diagnoses, and/or prognoses one or more biomedical features.
Claims Coverage
The independent claim coverage presents 3 inventive features focused on combining untargeted sequencing data with methylation-status-enriched target-specific sequencing data and using a computer to generate a biomedical report that predicts, diagnoses, and/or prognoses biomedical features.
Untargeted sequencing to generate first sequencing data
Subjecting a first nucleic acid sample of the subject to an untargeted sequencing reaction to generate a first set of sequencing data.
Target-specific sequencing with methylation-enriched nucleic acid
Subjecting a second nucleic acid sample of the subject to a target-specific sequencing reaction to generate a second set of sequencing data, wherein the second nucleic acid sample comprises nucleic acid molecules enriched based on methylation status.
Computer-generated biomedical report predicting, diagnosing, and/or prognosing features
Using a computer to generate a biomedical report based on the first set of sequencing data and the second set of sequencing data, wherein the biomedical report predicts, diagnoses, and/or prognoses one or more biomedical features.
The claim coverage centers on combining untargeted sequencing data with methylation-enriched target-specific sequencing data and generating a computer-based biomedical report that predicts, diagnoses, and/or prognoses one or more biomedical features.
Stated Advantages
Not explicitly described in patent.
Documented Applications
Not explicitly described in patent.
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