Abstract: Presented herein are techniques for indexing of nucleic acid, e.g., for use in conjunction with sequencing. The techniques include generating indexed nucleic acid fragments from an individual sample, whereby the index sequence incorporated into each index site of the nucleic acid fragment is selected from a plurality of distinguishable of index sequences and such that the population of generated nucleic acid fragments represents each index sequence from the plurality. In this manner, the generated indexed nucleic acid fragments from a single sample are indexed with a diverse mix of index sequences that reduce misassignment due to index read errors associated with low sequence diversity.

Abstract: The present invention provides a novel approach for storing, analyzing, and/or accessing biological data in a cloud computing environment. Sequence data generated by a particular sequencing device may be uploaded to the cloud computing environment during a sequencing run, which reduces the on-site storage needs for the sequence data. Analysis of the data may also be performed in the cloud computing environment, and the instructions for such analysis may be set at the originating sequencing device. The sequence data in the cloud computing environment may be shared according to permissions. Further, the sequence data may be modified or annotated by authorized secondary users.

Abstract: A method is used to generate a report presenting parameter values corresponding to a structured illumination microscopy (SIM) optical system. The parameter values are based at least in part on the performed modulation calculation corresponding to an image set captured with the SIM optical system. A minimum FWHM slice is identified, based at least in part on an average FWHM value across the images in the first image set. Parameter estimation is performed on the identified minimum FWHM slice. Best in-focus parameters are identified based at least in part on the performed estimation. A phase estimate is performed for each image in the set. A modulation calculation is performed based at least in part on the identified best in-focus parameters. The report is based at least in part on the performed modulation calculation.

Abstract: An example of a resin composition includes a free radical curable resin matrix including an acrylate and a siloxane, and a free radical photoinitiator. When cured, the resin composition has low or no autofluorescence when exposed to blue excitation wavelengths ranging from about 380 nm to about 480 nm or green excitation wavelengths ranging from about 510 nm to about 560 nm.

Abstract: Linear peristaltic pumps for use with fluidic cartridges. An apparatus includes a reagent cartridge configured to be received within a cartridge receptacle of a system. The reagent cartridge includes a reagent reservoir and a body including a surface that forms depressions. Each depression has a fluid inlet and a fluid outlet and is fluidly coupled to at least one other depression. The reagent cartridge also includes a deformable material coupled to the surface of the body and includes portions. Each portion covers one of the depressions to define chambers. The portions of the deformable material are movable relative to the depressions between a first position outside of a dimensional envelope of the body and a second position within the dimensional envelope of the body.

Abstract: An imprinting apparatus includes a silicon master and an anti-stick layer coating the silicon master. The silicon master includes a plurality of features positioned at an average pitch of less than about 425 nm, each of the plurality of features comprises a depression having an opening with its largest opening dimension being less than about 300 nm. The anti-stick layer includes a crosslinked silane polymer network.

Abstract: Described herein are standards and methods of normalizing amplicon size bias. These standards may comprise unique molecular identifiers. In some embodiments, the standards and methods are for use with next generation sequencing (NGS) assays. Also described herein are methods for quantifying DNA damage in a sample comprising DNA using fluorescence or for determining the presence of DNA damage in a library.

Abstract: Materials and methods for preparing nucleic acid libraries for next-generation sequencing are described herein. A variety of approaches are described relating to the use of unique molecular identifiers with transposon-based technology in the preparation of sequencing libraries. Also described herein are sequencing materials and methods for identifying and correcting amplification and sequencing errors.

Abstract: Methods and compositions for characterizing a target polynucleotide, including, characterizing the sequence of the target polynucleotide, using the fractional translocation steps of the target polynucleotide's translocation through a pore.

Abstract: Imprinted substrates are often used to produce miniaturized devices for use in electrical, optic and biochemical applications. Imprinting techniques, such as nanoimprinting lithography, may leave residues in the surface of substrates that affect bonding and decrease the quality of the produced devices. An imprinted substrate with residue-free region, or regions with a reduced amount of residue for improved bonding quality is introduced. Methods to produce imprinted substrates without residues from the imprinting process are also introduced. Methods include physical exclusion methods, selective etching methods and energy application methods. These methods may produce residue-free regions in the surface of the substrate that can be used to produce higher strength bonding.

Abstract: A biosensor is provided including a detection device and a flow cell mounted to the detection device. The detection device has a detector surface with a plurality of reaction sites. The detection device also includes a filter layer. A method is providing including obtaining signal data from an array of light detectors; determining a crosstalk function for each of the light detectors of the array of light detectors; and determining characteristics of analytes of interest based on the signal data using the crosstalk functions.

Abstract: Systems, computer-implemented methods, and non-transitory computer readable media are provided for sharing medical data. The disclosed systems may be configured to create a first workgroup having a first knowledgebase. This first knowledgebase may be federated with a common knowledgebase, and with a second knowledgebase of a second workgroup. At least one of the first knowledgebase, common knowledgebase, and second knowledgebase may be configured to store data items comprising associations, signs, and evidence. The signs may comprise measurements and contexts, and the associations may describe the relationships between the measurements and contexts. The evidence may support these associations. The disclosed systems may be configured to receive a request from a user in the first workgroup, retrieve matching data items, and optionally then output to the user at least some of the retrieved matching data items. The request may comprise at least one of a first association and a first measurement.

Abstract: A system includes an image sensor structure and a flow cell. The image sensor structure includes an image layer disposed over a base substrate. A device stack is disposed over the image layer. A bond pad is disposed in the device stack. A passivation stack is disposed over the device stack and the bond pad. An array of nanowells is disposed in a top layer of the passivation stack. A through-silicon via (TSV) is in electrical contact with the bond pad. The TSV extends through the base substrate. A redistribution layer (RDL) is disposed on a bottom surface of the base substrate. The RDL is in electrical contact with the TSV. The flow cell is disposed upon the top layer of the passivation stack to form a flow channel therebetween. The flow channel is disposed over the array of nanowells and the bond pad.

Abstract: The technology disclosed relates to splice site prediction and aberrant splicing detection. In particular, it relates to a splice site predictor that includes a convolutional neural network trained on training examples of donor splice sites, acceptor splice sites, and non-splicing sites. An input stage of the convolutional neural network feeds an input sequence of nucleotides for evaluation of target nucleotides in the input sequence. An output stage of the convolutional neural network translates analysis by the convolutional neural network into classification scores for likelihoods that each of the target nucleotides is a donor splice site, an acceptor splice site, and a non-splicing site.

Abstract: A method may be implemented for in-tip flow-through magnetic bead processing. A biological solution may include a plurality of magnetic beads suspended therein. The biological solution may be introduced to a tube via an opening in a tip portion of the tube. The tip portion of the tube may include a magnetizable material arranged in a flow path of the biological solution. The magnetizable material may include a ferromagnetic matrix or a wire within the tip portion. A magnetic field may be applied proximate to the tip portion of the tube using an electromagnetic coil. The electromagnetic coil may be wound around the tip portion. The biological solution may be removed from the tube, for example, via the opening in the tip portion. The plurality of magnetic beads may be captured within the magnetizable material in the tip portion using the magnetic field.

Abstract: A composition for capturing target polynucleotides at a surface of a substrate is provided. The composition may include a plurality of capture primers coupled to the surface of the substrate and including modified nucleic acids; and a plurality of orthogonal capture primers coupled to the surface of the substrate and including modified nucleic acids. The modified nucleic acids of the capture primers may include locked nucleic acid (LNA), peptide nucleic acid (PNA), or super T. The modified nucleic acids of the orthogonal capture primers may include locked nucleic acid (LNA), peptide nucleic acid (PNA), or super T.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for determining sequences of interest using unique molecular index (UMI) sequences that are uniquely associable with individual polynucleotide fragments, including sequences with low allele frequencies and long sequence length. In some implementations, the UMIs include both physical UMIs and virtual UMIs. In some implementations, the unique molecular index sequences include non-random sequences. System, apparatus, and computer program products are also provided for determining a sequence of interest implementing the methods disclosed.

Abstract: An apparatus includes a flow cell body, a plurality of electrodes, an imaging assembly, and one or more barrier features. The flow cell body defines one or more flow channels and a plurality of wells defined as recesses in the floor of each flow channel. Each well is fluidically coupled with the corresponding flow channel. The flow cell body further defines interstitial surfaces between adjacent wells. Each well defines a corresponding depth. Each electrode is positioned in a corresponding well of the plurality of wells. The electrodes are to effect writing of polynucleotides in the wells. The imaging assembly is to capture images of polynucleotides written in the wells. The one or more barrier features are positioned in the wells, between the wells, or above the wells. The one or more barrier features contain reactions in each well, reduce diffusion between the wells, or reduce optical cross-talk between the wells.