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.

Abstract: In some embodiments, the present inventions relates generally to compositions, methods and kits for use in discriminating sequence variation between different alleles. More specifically, in some embodiments, the present invention provides for compositions, methods and kits for quantitating rare (e.g., mutant) allelic variants, such as SNPs, or nucleotide (NT) insertions or deletions, in samples comprising abundant (e.g., wild type) allelic variants with high specificity and selectivity. In particular, in some embodiments, the invention relates to a highly selective method for mutation detection referred to as competitive allele-specific TaqMan PCR (“cast-PCR”).

Abstract: Provided are systems and methods for line volume calibration, and measurement of fluid samples delivered to an interrogation point. In various embodiments, a known fluid volume comprising a sample line fluid and a secondary fluid is delivered to a fluid boundary sensor. The fluid boundary sensor assists in determining the position of the boundaries between the various fluids, and the positions of these boundaries are used to determine the sample line fluid volume.

Abstract: A method of forming a particle includes, in a disperse phase within an aqueous suspension, polymerizing a plurality of mer units of a hydrophilic monomer having a hydrophobic protection group, thereby forming a polymeric particle including a plurality of the hydrophobic protection groups. The method further includes converting the polymeric particle to a hydrophilic particle.

Abstract: A system for biological analysis includes a housing, a block assembly within the housing having a sample block and a baseplate, a heated cover and a cover carrier. The sample block receives a sample holder comprising an RFID tag. A first drive mechanism generates relative movement between the sample block and the baseplate along a first axis. A second drive mechanism generates relative movement between the heated cover and the cover carrier along a second axis that is different from the first axis. Based on a first command the first drive mechanism releasably engages the sample block and operates the second drive mechanism to releasably engage the heated cover with the cover carrier. The system also includes first and second RFID antennas that receive RFID data from the sample holder RFID tag that is read by at least one RFID reader.

Abstract: Various cell analysis systems of the present teachings can measure the electrical and metabolic activity of single, living cells with subcellular addressability and simultaneous data acquisition for between about 10 cells to about 500,000 cells in a single analysis. Various sensor array devices of the present teachings can have sensor arrays with between 20 million to 660 million ChemFET sensors built into a massively paralleled array and can provide for simultaneous measurement of cells with data acquisition rates in the kilohertz (kHz) range. As various ChemFET sensor arrays of the present teachings can detect chemical analytes as well detect changes in cell membrane potential, various cell analysis systems of the present teachings also provide for the controlled chemical and electrical interrogation of cells.

Abstract: The invention is directed to apparatus and methods for delivering multiple reagents to, and monitoring, a plurality of analytical reactions carried out on a large-scale array of electronic sensors under minimal noise conditions. In one aspect, the invention provides method of improving signal-to-noise ratios of output signals from the electronic sensors sensing analytes or reaction byproducts by subtracting an average of output signals measured from neighboring sensors where analyte or reaction byproducts are absent. In other aspects, the invention provides an array of electronic sensors integrated with a microwell array for confining analytes and/or particles for analytical reactions and a method for identifying microwells containing analytes and/or particles by passing a sensor-active reagent over the array and correlating sensor response times to the presence or absence of analytes or particles.

Abstract: Systems and methods for analyzing overlapping sequence information can obtain first and second overlapping sequence information for a polynucleotide, align the first and second sequence information, determine a degree of agreement between the first and second sequence information for a location along the polynucleotide, and determine a base call and a quality value for the location.

Abstract: Embodiments herein provide methods of differentiating neural stem cells to neuronal cells while concomitantly retarding neural stem cell proliferation. Resultant cultures demonstrate reduced clumping of cells, increased purity of neuronal cells and accelerated electrophysiology as compared to control methods.

Abstract: The present disclosure provides apparatuses, systems, and methods for performing particle analysis through flow cytometry at comparatively high event rates and for gathering high resolution images of particles.

Abstract: A method comprises displaying, on a graphical user interface (GUI), a first data visualization comprising a positional representation of a plurality of reaction sites from at least a portion of a substrate, wherein the positional representation of the first data visualization simultaneously indicates relative data quality of the plurality of reaction sites; and altering the first data visualization displayed on the GUI to a second data visualization, the second data visualization comprising the positional representation of the plurality of reaction sites from the at least the portion of the substrate, wherein the positional representation of the second data visualization simultaneously indicates relative data quality of the plurality of reaction sites from at least the portion of the substrate based on a comparison of the data quality values of the plurality of reaction sites an adjusted quality value threshold.

Abstract: This invention relates to methods and compositions for coupling nucleic acid to a functionalized surface or support. In particular, the present invention provides an improved process for coupling aminated nucleic acid to a support functionalized with carboxylic acid groups, wherein the coupling reaction is conducted in the presence of an organic solvent. The invention further relates to compositions and kits for performing the coupling reaction and uses of nucleic acid-loaded supports for various applications.

Abstract: A method for filtering a gas includes passing a gas into a compartment of a casing that includes a polymeric film, the casing having: a first sleeve having a first outlet opening, a first filter being at least partially disposed within the first sleeve so that gas passing through the first sleeve must pass through the first filter; and a second sleeve having an second outlet opening, a second filter being at least partially disposed within the second sleeve so that gas passing through the second sleeve must pass through the second filter, the second sleeve being closed so that the gas passing into the compartment of the casing passes through the first sleeve and the first filter and directly contacts at least a portion of the first sleeve comprised of the polymeric film but does not pass through the second sleeve. Opening the second sleeve when a predetermined condition is met so that the gas passes through the second sleeve and the second filter.

Abstract: A thermal cycler system for use with a sample holder configured to receive a plurality of samples includes a sample block having an upstanding peripheral side wall and being configured to receive the sample holder and an adaptor having an upstanding peripheral side wall configured to be positioned about the peripheral side wall of the sample block. When the peripheral side wall of the adaptor is positioned about the peripheral side wall of the sample block and the sample holder is received in the sample block, the peripheral side wall of the adaptor extends in an upward direction toward the sample holder.

Abstract: In some embodiments, the present teachings provide compositions, systems, methods and kits for generating a population of nucleic acid fragments. In some embodiments, nucleic acids can be fragmented enzymatically. For example, methods for generating a population of nucleic acid fragments can include a nucleic acid nicking reaction. In one embodiment, the methods can include a nick translation reaction. A nicking reaction can introduce nicks at random positions on either strand of a double-stranded nucleic acid. A nick translation reaction can move the position of nicks to a new position so that the new positions of two of the nicks are aligned to create a double-stranded break. In some embodiments, methods for generating a population of nucleic acid fragments can include joining at least one end of a fragmented nucleic acid to one or more oligonucleotide adaptors.

Abstract: Disclosed herein are conjugates comprising a biomolecule linked to a label that have biological activity and are useful in a wide variety of biological applications. For example, provided herein are labeled polymerase conjugates including a polymerase linked to one or more labels, wherein the conjugate has polymerase activity. Such conjugates can exhibit enhanced biological activity and/or superior detectability as compared to conventional labeled polymerases. Also disclosed herein are improved methods for preparing such conjugates, and methods and systems for using such conjugates in biological applications such as nucleotide incorporation, primer extension and single molecule sequencing.

Abstract: Provided are methods, as well as compositions, kits, and systems for preparing optimized control nucleic acids (polynucleotides) having reduce nucleic acid damage. Provided nucleic acid compositions provide reduced artifacts as compared to nucleic acid compositions prepared by conventional methods. Provided compositions are useful control in a variety of applications, including, but not limited to sequencing workflows to effectively monitor sensitivity, accuracy and/or precision of data.

Abstract: An instrument for processing and/or measuring a biological process comprises a plurality of filter assemblies configured to be interchangeably located along at least one of the optical paths. The plurality of filter components includes a first filter assembly characterized by a first optical power and a first filter having a first filter function, the first filter function characterized by at least one of a first low-pass wavelength or a first high-pass wavelength. The second filter assembly is characterized by a second optical power and a second filter having a second filter function, the second filter function comprising at least one of a second low-pass wavelength that is different than the first low-pass wavelength or a second high-pass wavelength that is different than the first high-pass wavelength.

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.