INTEGRATED SYSTEMS AND METHODS FOR AUTOMATED PROCESSING AND ANALYSIS OF BIOLOGICAL SAMPLES, CLINICAL INFORMATION PROCESSING AND CLINICAL TRIAL MATCHING

The present disclosure provides a method for identifying a genomic aberration in one or more biological samples of a subject. The biological samples may be obtained and may comprise a nucleic acid sample that has or is suspected of having one or more genomic aberration(s) that appears at a frequency...

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Bibliographische Detailangaben
Hauptverfasser: Polkinghorn, William, Matsuguchi, Tetsuya, Pazarentzos, Evangelos, St. John, John Alden, Giannikopoulos, Petros
Format: Patent
Sprache:eng
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Zusammenfassung:The present disclosure provides a method for identifying a genomic aberration in one or more biological samples of a subject. The biological samples may be obtained and may comprise a nucleic acid sample that has or is suspected of having one or more genomic aberration(s) that appears at a frequency of less than about 5% in the nucleic acid sample. The nucleic acid sample may be enriched for a plurality of nucleic acid sequences to provide an enriched nucleic acid sample using a probe set comprising probes that have an on-target rate as a group of at least about 80%. Next, the enriched nucleic acid sample may be sequenced to generate sequencing reads. The sequencing reads can be processed to identify genomic aberration(s) in the one or more biological samples of the subject that appears at a frequency of less than about 5% in the nucleic acid sample.