Abstract: Techniques for simulating networks using dynamics-based constraints are disclosed.

Abstract: This disclosure provides for a highly-efficient and scalable compression tool that compresses quality scores, preferably by capitalizing on sequence redundancy. In one embodiment, compression is achieved by smoothing a large fraction of quality score values based on k-mer neighborhood of their corresponding positions in read sequences. The approach exploits the intuition that any divergent base in a k-mer likely corresponds to either a single-nucleotide polymorphism (SNP) or sequencing error; thus, a preferred approach is to only preserve quality scores for probable variant locations and compress quality scores of concordant bases, preferably by resetting them to a default value. By viewing individual read datasets through the lens of k-mer frequencies in a corpus of reads, the approach herein ensures that compression “lossiness” does not affect accuracy in a deleterious way.

Abstract: Methods for detecting a short genetic variant in a test sample are described herein. In some exemplary methods, the short genetic variant is called using one or more match scores, which are determined using one or more sequencing data sets obtained from a test nucleic acid molecule, wherein the test sequencing data sets are determined by sequencing the test nucleic acid molecule using non-terminating nucleotides provided in separate nucleotide flows according to a flow-cycle order. Also described herein are methods of sequencing a test nucleic acid molecule using two or more different flow-cycle orders and/or extended flow cycle orders having five or more nucleotide flows per flow cycle.

Abstract: Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.

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