METHODS, SYSTEMS, AND COMPUTER READABLE MEDIA FOR EVALUATING VARIANT LIKELIHOOD

    公开(公告)号:US20230360726A1

    公开(公告)日:2023-11-09

    申请号:US18130134

    申请日:2023-04-03

    CPC classification number: G16B20/20 C12Q1/6869 C12Q1/6874 G16B30/00 G16B40/00

    Abstract: A method comprises receiving an ensemble of sequencing reads based on measurements from a plurality of microwells of a sensor array; assigning measured values to the ensemble of sequencing reads; calculating model-predicted values utilizing a predictive model of nucleotide incorporations resulting from flows of nucleotide species according to a predetermined order; modifying at least some model-predicted values using a first bias for forward strands and a second bias for reverse strands, the modifying based on variations between model-predicted values for different hypothesized sequences obtained using the predictive model of nucleotide incorporations resulting from the flows of nucleotide species according to the predetermined order; calculating a measurement confidence value for each read in the ensemble of sequencing reads, the confidence value representing variations between the measured values and the modified model-predicted values; and identifying a plurality of reads in the ensemble as corresponding to a variant sequence.

    METHODS AND SYSTEMS FOR EVALUATING MICROSATELLITE INSTABILITY STATUS

    公开(公告)号:US20230340585A1

    公开(公告)日:2023-10-26

    申请号:US18152813

    申请日:2023-01-11

    Inventor: Sameh El-Difrawy

    Abstract: Methods for evaluating microsatellite instability (MSI) analyze nucleic acid sequence reads corresponding to a plurality of marker regions for MSI. The marker regions may include long homopolymers and/or short tandem repeats (STRs). For a target homopolymer, a histogram of homopolymer signal values is calculated based on flow space signal measurements for the homopolymer region in the sequence reads. A score per marker based on features of the histogram of homopolymer signal values is determined for each marker region corresponding to the target homopolymers. For a target STR, the method includes calculating a histogram of repeat lengths for sequence reads corresponding to the marker region of the target STR. A score per STR marker is calculated based on features of the histogram of repeat lengths. A plurality of per marker scores may be combined to form a total MSI score for the sample.

    HIGH DATA RATE INTEGRATED CIRCUIT WITH TRANSMITTER CONFIGURATION

    公开(公告)号:US20230204537A1

    公开(公告)日:2023-06-29

    申请号:US18056194

    申请日:2022-11-16

    CPC classification number: G01N27/4145 G06F30/392 G06F30/394 G01N27/4148

    Abstract: A high data rate integrated circuit, such as an integrated circuit including a large sensor array, may be implemented using clock multipliers in individual power domains, coupled to sets of transmitters, including a transmitter pair configuration. Reference clock distribution circuitry on the integrated circuit distributes a relatively low speed reference clock. In a transmitter pair configuration, each pair comprises a first transmitter and a second transmitter in a transmitter power domain. Also, each pair of transmitters includes a clock multiplier connected to the reference clock distribution circuitry, and disposed between the first and second transmitters, which produces a local transmit clock.

    CALIBRATION PANELS AND METHODS FOR DESIGNING THE SAME

    公开(公告)号:US20230193379A1

    公开(公告)日:2023-06-22

    申请号:US17811192

    申请日:2022-07-07

    CPC classification number: C12Q1/6874 C12Q1/6825 C12N15/1058

    Abstract: A method for preparing a homopolymer recalibration panel includes: extracting, from a set of amplicons used in sequencing-by-synthesis, a set of candidate amplicons satisfying a first set of criteria, wherein the first set of criteria includes amplicons known to belong to high-confidence regions of a reference genome with no variants; and selecting, from the set of candidate amplicons, a reduced set of amplicons satisfying a second set of criteria, wherein the second set of criteria includes amplicons that together comprise at least a minimal threshold number of homopolymers of each homopolymer length between a predetermined minimal homopolymer length and a predetermined maximal homopolymer length for one or more of homopolymer types A, T, C, and G.

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