METHODS AND SYSTEMS FOR DETECTING RESIDUAL DISEASE

    公开(公告)号:US20250101533A1

    公开(公告)日:2025-03-27

    申请号:US18910965

    申请日:2024-10-09

    Abstract: Described herein are methods, devices, and systems for measuring a level of a disease (such as cancer), for example a fraction of nucleic acid molecules (such as cell-free DNA) in a sample from an individual that relate to diseased tissue (such as cancer tissue). Also described are methods, devices, and systems for measuring a presence, recurrence, progression, or regression of the disease in the individual. Certain methods include comparing, using nucleic acid sequencing data associated with the individual, a signal indicative of a rate at which sequenced loci selected from a personalized disease-associated small nucleotide variant (SNV) locus panel are derived from a diseased tissue to a background factor indicative of a sequencing false positive error rate, or a noise factor indicative of a sampling variance, across the selected loci.

    METHODS FOR ACCURATE BASE CALLING USING MOLECULAR BARCODES

    公开(公告)号:US20220162590A1

    公开(公告)日:2022-05-26

    申请号:US17546978

    申请日:2021-12-09

    Abstract: The present disclosure provides methods for accurate base calling of sequences using molecular barcodes. A method for sequencing nucleic acid molecules may comprise: (a) using barcode molecules to barcode nucleic acid molecules from a sample, to generate barcoded nucleic acid molecules comprising barcode sequences; (b) sequencing the barcoded nucleic acid molecules to generate sequencing signals comprising signals corresponding to the barcode sequences, wherein the sequencing signals are not sequencing reads; (c) using the signals corresponding to the barcode sequences to group the sequencing signals into groups, wherein sequencing signals of a given group comprise signals corresponding to a barcode sequence that is (i) identical for the given group and (ii) different from barcode sequences of other groups; (d) processing the sequencing signals within the given group to generate sets of aggregated signals which are not sequencing reads; and (e) combining the sets of aggregated signals to generate a consensus sequence.

    METHODS AND SYSTEMS FOR SEQUENCE CALLING

    公开(公告)号:US20210142869A1

    公开(公告)日:2021-05-13

    申请号:US17090176

    申请日:2020-11-05

    Abstract: The present disclosure provides methods and systems for accurate and efficient context-aware base calling of sequences. In an aspect, disclosed herein is a method for sequencing a nucleic acid molecule, comprising: (a) sequencing the nucleic acid molecule to generate a plurality of sequence signals; and (b) determining base calls of the nucleic acid molecule based at least in part on (i) the plurality of sequence signals and (ii) quantified context dependency for at least a portion of the plurality of sequence signals.

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