摘要:
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.
摘要:
A metabolized product ion spectrum is produced for a metabolized version of a known compound using tandem mass spectrometry. Metabolized structures are inferred from the metabolized product ion spectrum. An unmetabolized product ion spectrum is received for an unmetabolized version of the known compound and unmetabolized structures are inferred from the unmetabolized product ion spectrum. Each of the metabolized structures is compared to the unmetabolized structures, producing matched and unmatched structures. For each unmatched structure, a biotransformation repository is searched for modifications and each unmatched structure and the modifications found are again compared to the unmetabolized structures, producing modified matched structures. For each atomic index of the known compound, an unmodified specificity is calculated from the matched structures, a modified intensity specificity is calculated from the modified matched structures, and a score is calculated from the specificities. Atomic indices with the highest score are identified as sites of modification.
摘要:
A sample analysis system is provided with: a reference substance database including measurement results and component classification information of reference substances obtained by each analysis device on information of each reference substance; a reference substance designation unit; a measurement result collation unit to obtain the commonality of the components, the difference between the physical quantities of the respective components, and the degree of coincidence of the measurement results for each analysis device for the designated reference substance; an integration coincidence degree calculation unit to obtain an integration degree of coincidence; and a judgment unit to judge whether or not the difference between the contents of contained components is within an allowable range and classify the corresponding component based on the component classification information.
摘要:
Provided herein are systems and methods for sequencing, amplifying, detecting, analyzing, and/or performing sample preparation procedures for nucleic acids and other biomolecules.
摘要:
A computer implemented method for training a neural network to capture a structural feature specific to a set of chemical compounds is disclosed. In the method, the computer system reads an expression describing a structure of the chemical compound for each chemical compound in the set and enumerates one or more combinations of a position and a type of a structural element appearing in the expression for each chemical compound in the set. The computer system also generates training data based on the one or more enumerated combinations for each chemical compound in the set. The training data includes one or more values with a length, each of which indicates whether or not a corresponding type of the structural element appears at a corresponding position for each combination. Furthermore, the computer system trains the neural network based on the training data for the set of the chemical compounds.
摘要:
A method is provided for evaluating a set of measurement data from an oral glucose tolerance test. The method may include calculating a similarity measure that quantifies the similarity between a time profile of the series of measured data of the glucose concentration and a corresponding glucose reference profile. The method may include calculating a further similarity measure that quantifies the similarity between the profile of the series of measured values of the further analyte concentration and the corresponding analyte sample profile, wherein the data set is represented by a point in a vector space that comprises coordinate axes that are formed by the similarity measures, whereby the coordinates of said point contain the calculated values of the similarity measures. The method also may include evaluating the position of the point with respect to reference points, which each represent a defined state of health, in order to calculate a parameter that specifies the state of the glucose metabolism of the patient.
摘要:
Systems and methods for generating a model tree structure for a multiphysics modeling system include the acts of transmitting a plurality of selectable physics options for association with at least one of combined systems. An input associated with a selection of at least one of the plurality of selectable physics options is received. One or more selectable study options are transmitted for association with the combined systems. An input associated with a selection of at least one of the one or more selectable study options is received. In response to receiving the input associated with the selection at least one of the one or more selectable study options, a model tree structure is generated using the one or more processing units. The model tree structure includes a plurality of selectable nodes including one or more parent nodes and one or more child nodes. The selectable nodes include fields storing physical quantities and operations for modeling the combined systems.
摘要:
A system and method is provided for using a communications network coupling a plurality of computer systems, a database, and a at least one external data source together to facilitate communication therebetween. The plurality of computer systems is configured to extract at least one term from a medical order for the patient, identify at least one medical concept related to an extracted term, and identify at least one medical data element related to an identified medical concept. The plurality of computer system is further configured to query the database for the identified at least one medical data element, query the at least one external data source to retrieve at least one guideline for performing at least one intervention associated with the at least one medical data element, and generate a user interface that displays at least a portion of a result from the queries.
摘要:
A method is provided for determining whether a difference between a first reference sequence and first comparative sequences sharing homology with the first reference sequence is caused by a mutation of the first comparative sequence or a read error in sequencing. The method includes generating second comparative sequences and a second reference sequence by substituting for a sequence having the predetermined base number of the consecutive same bases in the first comparative sequences and the first reference sequence, calculating an edit distance of the second comparative sequence to the second reference sequence, and determining whether the difference is caused by the mutation or the read error based on the edit distance.
摘要:
The present invention is a method for assigning a qualitative importance of relevant genetic phenotypes to the use of specific drugs for individual patients based on genetic test results. The invention provides a drug-centric integration of pharmacogenetic test information across multiple genes relevant to an individual drug. The invention then assigns a color designation for each drug reported and groups the drugs together on a report according to drug class/therapeutic area, thus allowing the physician to easily and quickly identify a drug from a specific drug class that would be best for that patient according to their entire pharmacogenetic test results. The outputs of the method can be added to existing pharmacogenetic test reports as a quick guide for the physician. Such integration of pharmacogenetic information from multiple genes and drug-centric organization of the outputs should allow physicians to more easily utilize and incorporate pharmacogenetic testing into their practice.