Abstract: The present invention provides assays and assay systems for use in spatially encoded biological assays. The invention provides an assay system comprising an assay capable of high levels of multiplexing where reagents are provided to a biological sample in defined spatial patterns; instrumentation capable of controlled delivery of reagents according to the spatial patterns; and a decoding scheme providing a readout that is digital in nature.

Abstract: Exemplary methods for identifying progenies for use in plant breeding are disclosed. One exemplary computer-implemented method includes accessing a data structure including data representative of a pool of progenies and determining a prediction score for at least a portion of the pool of progenies based on the data included in the data structure. The prediction score indicates a probability of selection of the progeny based on historical data. The method further includes selecting a group of progenies from the pool of progenies based on the prediction score, identifying a set of progenies, from the group of progenies, based on at least one of an expected performance of the group of progenies and at least one factor associated with the set of progenies, the pool of progenies and/or the group of progenies, and directing the set of progenies into a validation phase of a breeding pipeline.

Abstract: Methods, systems, and apparatus are provided for determining whether a nucleic acid sequence imbalance exists within a biological sample. One or more cutoff values for determining an imbalance of, for example, the ratio of the two sequences (or sets of sequences) are chosen. The cutoff value may be determined based at least in part on the percentage of fetal DNA in a sample, such as maternal plasma, containing a background of maternal nucleic acid sequences. The percentage of fetal DNA can be calculated from the same or different data used to determine the cutoff value, and can use a locus where the mother is homozygous and the fetus is heterozygous. The cutoff value may be determined using many different types of methods, such as sequential probability ratio testing (SPRT).

Abstract: The disclosure provides methods and systems for designing and synthesizing probes to capture a representative sample of genomic variants of a target genome from a sample. The methods include providing a multiple sequence alignment (MSA), designing a plurality of representative subsequences, and optionally synthesizing a nucleic acid probe. The designing step can comprise designating a plurality of intervals in the MSA, shifting start positions for each MSA subset, clustering the aligned subsequences within each adjusted subset, and determining a representative sequence for each reduced MSA subset. The disclosure also encompasses methods of isolating a plurality of nucleic acid variants of a targeted genomic subregion from a sample using the disclosed probe design, as well as the probe compositions themselves.

Abstract: A technique for performing a function by utilizing chemical reactions is disclosed. In the technique, solution including an input chemical species having a concentration is provided. A chemical reaction network that includes at least a sequence of chemical reactions starting with the input chemical species to generate a plurality of output chemical species is also prepared. The solution is exposed to the chemical reaction network to present a pattern formed by the plurality of output chemical species depending on the concentration of the input chemical species.

Abstract: In an example method, a series of time-based clustering images is generated for a plurality of library fragments from a genome sample. Each time-based clustering image in the series is sequentially generated. To generate each time-based clustering image in the series: i) a respective sample is introduced to a flow cell, the respective sample including contiguity preserved library fragments of the plurality of library fragments, wherein the contiguity preserved library fragments are attached to a solid support or are attached to each other; ii) the contiguity preserved library fragments are released from the solid support or from each other; iii) the contiguity preserved library fragments are amplified to generate a plurality of respective template strands; iv) the respective template strands are stained; and v) the respective template strands are imaged.

Abstract: Provided are a method and device for assessing a feasibility of one or more biochemical reactions in an organism. The method includes receiving an input representing the organism and input representing one or more biochemical reactions that are to be assessed; computing a reaction feasibility score for each of the one or more input biochemical reactions a knowledgebase; and selecting the biochemical reaction that is likely to occur in the organism.

Abstract: A force and/or motion measurement system is disclosed herein. The force and/or motion measurement system includes a motion capture device comprising at least one camera configured to detect a motion of a person, the at least one camera being mounted in a floor of a room or in a top component of a force measurement assembly; and at least one data processing device operatively coupled to the at least one camera of the motion capture device, the at least one data processing device configured to determine a position and/or movement of one or more limbs of the person based upon output data from the at least one camera of the motion capture device.

Abstract: Techniques for generating therapy biomarker scores and visualizing same. The techniques include determining, using a patient's sequence data and distributions of biomarker values across one or more reference populations, a first set of normalized scores for a first set of biomarkers associated with a first therapy, and a second set of normalized scores for a second set of biomarkers associated with a second therapy, generating a graphical user interface (GUI) including a first portion associated with the first therapy and having at least one visual characteristic determined based on a normalized score of the respective biomarker in the first set of normalized scores; and a second portion associated with a second therapy and having at least one visual characteristic determined based on a normalized score of the respective biomarker in the second set of normalized scores; and displaying the generated GUI.

Abstract: The present invention belongs to the field of diagnosis of disease.

Abstract: The present system is configured to display distributions of predicted health outcome information for patient populations in geographical areas. The system is configured to obtain demographic, social (e.g., including environmental), and prior health outcome information for a patient population in a geographical area. The system is configured to train a prediction model based on the demographic, social, and prior health outcome information, which outputs weighted features of the demographic and social information that are predictive of health outcomes for the patient population. The system is configured to cause display of a distribution of predicted health outcome information for the patient population in the geographical area based on the weighted features.

Abstract: The present disclosure provides for generation of predictions for a compound based on input data corresponding to the compound. A cell digital twin receives the input data corresponding to the compound and generates predictions based on the input data. The cell digital twin comprises a prediction engine including a model generated using reduced representations of known cell response profiles corresponding to tested compounds. The model is updated by a feedback loop between a validation engine of the cell digital twin and the model.

Abstract: The present invention provides methods, systems, computer program products that use deep learning with neural networks to denoise ATAC-seq datasets. The methods, systems, and programs provide for increased efficiency, accuracy, and speed in identifying genomic sites of chromatin accessibility in a wide range of tissue and cell types.

Abstract: A bioinformatics process which provides an improved means to detect a JAK-STAT1/2 cellular signaling pathway in a subject, such as a human, based on the expression levels of at least three unique target genes of the JAK-STAT1/2 cellular signaling pathway measured in a sample. The invention includes an apparatus comprising a digital processor configured to perform such a method, a non-transitory storage medium storing instructions that are executable by a digital processing device to perform such a method, and a computer program comprising program code means for causing a digital processing device to perform such a method. Kits are also provided for measuring expression levels of unique sets of JAK-STAT1/2 cellular signaling pathway target genes.

Abstract: A method for quantifying the sensibility of a test microorganism to a concentration of an antimicrobial agent includes: preparing two liquid samples including the microorganism, one having the antimicrobial agent and one without; for each sample acquiring, by a flow cytometer, a digital set values including a fluorescence, forward, or side scatter distribution, and computing: a first coordinate value corresponding to the acquired distribution main mode and an acquired distribution first area for values greater than the first coordinate value, and a second coordinate value, greater than the first, for which an acquired distribution second area between the values equals a first area predefined percentage over 50%; computing a ratio according to: Q = QT ? ( ATB ) - Mode ? ( ATB ) QT ? ( no ? ? ATB ) - Mode ? ( no ? ? ATB ) where Mode(ATB) and QT(ATB) are the first and second coordinate values with the antimicrobial agent concentration, and Mode(no ATB) and QT(no ATB) are r

Abstract: Disclosed herein are systems and methods for performing secondary analyses of nucleotide sequencing data in a time-efficient manner. Some embodiments include performing a secondary analysis iteratively while sequence reads are generated by a sequencing system. Secondary analyses can encompass both alignment of sequence reads to a reference sequence (e.g., the human reference genome sequence) and utilization of this alignment to detect differences between a sample and the reference. Secondary analysis can enable detection of genetic differences, variant detection and genotyping, identification of single nucleotide polymorphisms (SNPs), small insertions and deletion (indels) and structural changes in the DNA, such as copy number variants (CNVs) and chromosomal rearrangements.

Abstract: A method for global mapping between a first sequence Xp and a second sequence Xg.

Abstract: A computer system and method for sequencing deoxyribonucleic acid (DNA), to determine the order of the different nucleotides in a genomic sequence or sequence fragment. An alignment system employs a direct “brute force” Hamming distance calculation between a read sequence and a reference genome. The alignment system is configured to compare directly a set of DNA fragments to a reference genome in a short period, and with the higher probability of accuracy than similar comparison systems given the same number of clock cycles. Each DNA fragment is compared with a reference genome for the entire length of the latter using arrangements of memory cells for storing read sequences and inverse complements of the read sequences, shift registers for streaming the reference genome, and circuitry for calculating and summing the distance between the reference, the read sequence, and the inverse complement in parallel. Both digital and analog implementations are described.

Abstract: Methods and computer systems are described herein for identifying small molecules that bind to selected RNA structural features (e.g., to RNA secondary structures). Also described are compounds and compositions that modulate RNA function and/or activity.

Abstract: A method for obtaining a cycle of a physiological signal includes: a collection device for collecting a vibration signal of body movements; a processor for obtaining a physiological signal by processing the vibration signal; receiving a physiological signal value and a register value, comparing the physiological signal value with the register value, and reserving one of the physiological signal value and the register value; determining the physiological signal value having a corresponding time duration, reaching a given set time to be an extreme value, wherein the time duration is a time duration of the physiological signal value received is not exceeded; restarting the procedure and determining a next extreme value; obtaining the cycle of the physiological signal by processing the at least one extreme value; and displaying the cycle of the physiological signal in a display device.