METHODS AND SYSTEMS FOR REDUCING PHASING ERRORS WHEN SEQUENCING NUCLEIC ACIDS USING TERMINATION CHEMISTRY

    公开(公告)号:US20190218599A1

    公开(公告)日:2019-07-18

    申请号:US16362407

    申请日:2019-03-22

    Inventor: Earl HUBBELL

    Abstract: A method for nucleic acid sequencing may include disposing a plurality of template nucleic acid molecules in a plurality of defined spaces disposed on a sensor array, at least some of the plurality of template nucleic acid molecules having a sequencing primer and a polymerase operably bound therewith; advancing one or more nucleotide species over the plurality of template nucleic acid molecules with the sequencing primer and the polymerase operably bound therewith; measuring a signal generated by nucleotide incorporations resulting from advancing the one or more nucleotide species; and exposing the plurality of template nucleic acid molecules to a cleaving reagent subsequent to the advancing and measuring. The cleaving reagent can remove labeling reagents attached to the one or more nucleotide species. The advancing and measuring steps can be performed for different orders of the one or more nucleotide species prior to a subsequent exposing of the plurality of template nucleic acid molecules to the cleaving reagent.

    CHEMICALLY-ENHANCED PRIMER COMPOSITIONS, METHODS AND KITS

    公开(公告)号:US20190211373A1

    公开(公告)日:2019-07-11

    申请号:US16247267

    申请日:2019-01-14

    Abstract: A chemically-enhanced primer is provided comprising a negatively charged moiety (NCM), an oligonucleotide sequence having a) non-nuclease resistant inter-nucleotide linkages or b) at least one nuclease resistance inter-nucleotide linkage. The chemically-enhanced primer can be used for sequencing and fragment analysis. Methods for synthesizing the chemically-enhanced primer as well as a method of preparing DNA for sequencing, a method of sequencing DNA, and kits containing the chemically-enhanced primer are also provided. The method of sequencing DNA can comprise contacting amplification reaction products with the composition wherein excess amplification primer is degraded by the nuclease and the chemically-enhanced primer is essentially non-degraded.

    Methods and systems for nucleic acid sequencing validation, calibration and normalization

    公开(公告)号:US10337058B2

    公开(公告)日:2019-07-02

    申请号:US14856623

    申请日:2015-09-17

    Abstract: A system for performing quality control for nucleic acid sample sequencing is disclosed. The system comprises a set of solid supports, each solid support having attached thereto a plurality of nucleic acid sequences, wherein the set comprises plural groups of solid supports and each group contains solid supports having the same nucleic acid sequences attached thereto. The nucleic acid sequences of each group differ from each other. The nucleic acid sequences are synthetically derived, and the nucleic acids sequences are designed such that the nucleic acid sequences produce a predefined pattern of detectable signals during a sequencing run. A method of preparing a quality control for performing nucleic acid sample sequencing, a method of validating a nucleic acid sequencing instrument during a nucleic acid sequencing experiment, and a method of processing nucleic acid sequencing data during a nucleic acid sequencing experiment are also disclosed.

    METHODS, SYSTEMS, AND COMPUTER-READABLE MEDIA FOR TANDEM DUPLICATION DETECTION

    公开(公告)号:US20190172554A1

    公开(公告)日:2019-06-06

    申请号:US16206003

    申请日:2018-11-30

    Inventor: Denis Kaznadzey

    Abstract: A method for detecting a tandem duplication in an FLT3 gene of a sample, includes mapping reads corresponding to targeted regions of exons of the FLT3 gene to a reference sequence. A partially mapped read includes a mapped portion, a soft-clipped portion and a breakpoint. Analyzing the partially mapped reads intersecting a column of the pileup includes detecting a duplication in the soft-clipped portion by comparing the soft-clipped portion to the mapped portion adjacent to the breakpoint; determining an insert size of the duplication in the soft-clipped portion; and assigning the partially mapped read to a category based on the insert size. Categories correspond to insert sizes. The categories are filtered and converted into features corresponding to the column. The features corresponding to one or more columns representing a same insert are merged to determine a location and size of a tandem duplication.

    SYSTEMS AND METHODS FOR SAMPLE IMAGE CAPTURE USING INTEGRATED CONTROL

    公开(公告)号:US20190170996A1

    公开(公告)日:2019-06-06

    申请号:US16175550

    申请日:2018-10-30

    Abstract: Embodiments relate to systems and methods for sample image capture using integrated control. A digital microscope or other imaging device can be associated with a sample chamber containing cell, tissue, or other sample material. The chamber can be configured to operate using a variety of environmental variables, including gas concentration, temperature, humidity, and others. The imaging device can be configured to operate using a variety of imaging variables, including magnification, focal length, illumination, and others. A central system control module can be used to configure the settings of those hardware elements, as well as others, to set up and carry out an image capture event. The system control module can be operated to control the physical, optical, chemical, and/or other parameters of the overall imaging environment from one central control point. The variables used to produce the image capture can be configured to dynamically variable during the media capture event.

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