Abstract: The present invention generally relates to storing sequence read data. The invention can involve obtaining a plurality of sequence reads from a sample, identifying one or more sets of duplicative sequence reads within the plurality of sequence reads, and storing only one of the sequence reads from each set of duplicative sequence reads in a text file using nucleotide characters.

Abstract: The present invention relates to a method of using nanopores to obtain sequence information of sample DNAs in ss test DNAs. The method comprises using speed bumps to stall the ss test DNAs in the nanopores at random positions of the ss test DNAs to obtain sequence information of each and every nucleotides of the sample DNAs, and to construct the whole sequences of the sample DNAs. The present invention also relates to identification and/or isolation of test DNAs having desired sequence(s) using nanopore detectors facilitated by speed bump.

Abstract: Provided are a sequence recombination method for NGS and an apparatus thereof. According to an embodiment of the present, a fragment sequence having a length of n is divided into six fragments of an equal sequence length, and then three fragments located in a preceding part of the fragment sequence among the six fragments of an equal sequence length are used as a seed to search for a mapping position candidate by searching for a hash table which is generated on the basis of a reference sequence.

Abstract: A method for confirming the association of a query QTL or a query gene in the genome of a second species with a clinical trait T exhibited by the second species. A first QTL or a first gene in a first species that is linked to a trait T? is found. The trait T? is indicative of trait T. A region of the genome of the first species that comprises the first QTL or the first gene is mapped to a particular region of the genome of the second species. A query QTL or a query gene in the second species that is potentially associated with the trait T is found. The potential association of the query QTL or the query gene with the clinical trait T is confirmed when the query QTL or the query gene is in the particular region of the genome of the second species.

Abstract: Disclosed herein are methods of determining the sequence and/or positions of modified bases in a nucleic acid sample present in a circular molecule with a nucleic acid insert of known sequence comprising obtaining sequence data of at least two insert-sample units. In some embodiments, the methods comprise obtaining sequence data using circular pair-locked molecules. In some embodiments, the methods comprise calculating scores of sequences of the nucleic acid inserts by comparing the sequences to the known sequence of the nucleic acid insert, and accepting or rejecting repeats of the sequence of the nucleic acid sample according to the scores of one or both of the sequences of the inserts immediately upstream or downstream of the repeats of the sequence of the nucleic acid sample.

Abstract: Provided herein are methods and systems for rapid identification and quantification of the taxonomic composition of a microbial metagenome in a sample, based on compositional spectra analysis. The methods and systems are useful in diagnostic and analytic methods in the clinic and in the field.

Abstract: A system and method for converting static/still medical images of a particular patient into dynamic and interactive images interacting with medical tools including medical devices by coupling a model of tissue dynamics and tool characteristics to the patient specific imagery for simulating a medical procedure in an accurate and dynamic manner.

Abstract: The present invention relates to a method for assembly of nucleic acid sequence data comprising nucleic acid fragment reads into (a) contiguous nucleotide sequence segment(s), comprising the steps of: (a) obtaining a plurality of nucleic acid sequence data from a plurality of nucleic acid fragment reads; (b) aligning said plurality of nucleic acid sequence data to a reference sequence; (c) detecting one or more gaps or regions of non-assembly, or non-matching with the reference sequence in the alignment output of step (b); (d) performing de novo sequence assembly of nucleic acid sequence data mapping to said gaps or regions of non-assembly; and (e) combining the alignment output of step (b) and the assembly output of step (d) in order to obtain (a) contiguous nucleotide sequence segment(s).

Abstract: Processes are described for provision of privacy-sensitive sample analysis results to a sample provider. The sample provider generates a cryptographic commitment encoding a secret value, r, and a sample identifier, s, associated with a sample container. The sample provider provides the commitment to an analysis provider in association with the sample container containing a sample for analysis. The analysis provider analyzes the sample to obtain a set of analysis results corresponding to the sample identifier, s, and generates a cryptographic pre-credential, ??, corresponding to the sample identifier, s. The pre-credential, ??, encodes the set of analysis results and the commitment. Completion of the pre-credential, ??, requires knowledge of the secret value, r, in the commitment.

Abstract: Methods for non-invasive prenatal ploidy calling are disclosed herein. Methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a sample of DNA from the mother of the fetus and from the fetus, and from genotypic data from the mother and optionally also from the father are disclosed herein. The ploidy state is determined by using a joint distribution model to create a set of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Processes and methods for creating a database of genomic samples from healthy human donors, methods that use the database to identify and correlate polymorphic genetic markers and other markers with diseases and conditions are provided.

Abstract: The present invention relates to methods of optimization of a protein coding sequences for expression in a given host cell. The methods apply genetic algorithms to optimise single codon fitness and/or codon pair fitness sequences coding for a predetermined amino acid sequence. In the algorithm generation of new sequence variants and subsequent selection of fitter variants is reiterated until the variant coding sequences reach a minimum value for single codon fitness and/or codon pair fitness. The invention also relates to a computer comprising a processor and memory, the processor being arranged to read from and write into the memory, the memory comprising data and instructions arranged to provide the processor with the capacity to perform the genetic algorithms for optimization of single codon fitness and/or codon pair fitness.

Abstract: Methods and systems for the analysis of genotyping data are presented. According to various embodiments of methods and systems, an angle configuration search may be performed. In various embodiments, an exhaustive search over the entirety of an angle configuration space may be performed to provide a fit to a plurality of angles determined for a plurality of points in a data set generated from a plurality of biological samples. For various embodiments, the angle configuration space may be defined to ensure that a global fit may be determined. According to various methods and systems, a data base of possible angle configurations may be searched, in which each angle configuration may include three angles. According to various methods and systems, a data base of possible angle configurations may include for each angle configuration a probability that the angle configuration may occur.

Abstract: Methods for determining the copy number of a genomic region at a detection position of a target sequence in a sample are disclosed. Genomic regions of a target sequence in a sample are sequenced and measurement data for sequence coverage is obtained. Sequence coverage bias is corrected and may be normalized against a baseline sample. Hidden Markov Model (HMM) segmentation, scoring, and output are performed, and in some embodiments population-based no-calling and identification of low-confidence regions may also be performed. A total copy number value and region-specific copy number value for a plurality of regions are then estimated.

Abstract: The invention relates to a method for optimizing a nucleotide sequence for expression of a protein on the basis of the amino acid sequence of the protein, in which for a particular region there is specification of a test sequence with m optimization positions on which the codon occupation is varied, a quality function being used to ascertain the optimal codon occupation on these optimization positions, and one or more codons of this optimal occupation being specified as codons of the optimized nucleotide sequence. These steps are iterated, with the codons of the optimized nucleotide sequence which are specified in the preceding steps remaining unchanged in subsequent iteration steps. The invention additionally relates to a device for carrying out this method.

Abstract: Methods and systems for assessing the probabilities of the expression of one or more traits in progeny are described.

Abstract: A method and apparatus for minimizing diagnostic errors due to transposition of biological specimens among subjects provides for independent biometric confirmation that a given specimen is from a given donor. In certain embodiments, a biological specimen confirmation kit comprises a portable and openable case housing components of the kit, at least one biological specimen container adapted to receive a biological testing specimen from a donor, and at least one reference sample device adapted to receive a biological reference specimen from the same donor, such that the testing and reference specimens can later be compared for donor match verification by a reference verification entity.

Abstract: A system, method, and computer program product.

Abstract: Disclosed are new and improved methods and systems for nucleic acid sequence analysis that can analyze data indicative of natural by-products of nucleotide incorporation events without the need for exogenous labels or dyes to identify nucleic acid sequences of interest. In particular, the methods and systems of the present teachings can process such data and various forms thereof to align fragments of the nucleic acid(s) of interest, particularly those analyzed using an addition sequencing technique, for example, as occurs with the use of nucleotide flows.

Abstract: In a genetic optimization method, the genes of a chromosome population are computationally genetically evolved. The evolving includes evolving a number of expressed genes in each chromosome and employing a fitness criterion evaluated without reference to unexpressed genes of each chromosome. An optimized chromosome produced by the genetic evolving is selected.

Abstract: Methods for identifying disease-related pathways that can be used to identify drug discovery targets, to identify new uses for known drugs, to identify markers for drug response, and related purposes.

Abstract: Provided are a method of aligning a read sequence relative to a reference sequence using a seed and a read-sequence aligning apparatus using the same. The apparatus may include a seed generating unit producing seeds from read sequences, a representative seed selecting unit grouping the seeds into a plurality of seed clusters and selecting representative seeds from the plurality of seed clusters, a seed aligning unit aligning the representative seeds relative to a reference sequence, and a read-sequence aligning unit aligning the read sequences relative to the reference sequence, with reference to the alignment result of the representative seeds. The read sequence alignment may be performed using relationship between seeds, and thus, the sequencing may be performed with improved efficiency.

Abstract: Disclosed is the use of artificially-generated nucleic acid coded markers to monitor nucleic acid amplification and sequencing reactions designed to detect or analyze biological samples. The markers generally include, along with a unique sequence preferably including coded section designed to represent one or more factors of interest, primer annealing sequences so that the marker may be amplified and sequenced in the same process and using the same amplification and sequencing primers as for the sample target. The invention also relates to the marker itself, and other uses, such as identifying the origin of various materials or products.

Abstract: The invention is a method and system for functional biomechanical analysis. The analysis assesses the biomechanical relationships of the spine and adjacent regions in a dynamic state based on a patient's chief complaint and clinical presentation. The analysis calculates a value of function or impact for a particular spinal region.

Abstract: Disclosed are a method of and system for detecting a consensus motif in a data sequence. The method comprises the steps of obtaining the data sequence, identifying potential signal (PS) segments of interest in the data sequence, and carrying out comparison and alignment processes amongst the PS segments to extract the consensus motif. Preferably, an unsupervised motif discovery process is used to identify the PS segments. More specifically, this may be done by extracting all common motifs across the sequence using the unsupervised motif discovery process; and for each of at least selected positions in the sequence, computing the weighted sum of the common motifs that cover said position. The PS segments that cover the positions where said number is above a given threshold may then be identified as the PS segments.

Abstract: An implementation of SVM functionality improves efficiency, time consumption, and data security, reduces the parameter tuning challenges presented to the inexperienced user, and reduces the computational costs of building SVM models. A system for support vector machine processing comprises data stored in the system, a client application programming interface operable to provide an interface to client software, a build unit operable to build a support vector machine model on at least a portion of the data stored in the system, the portion of the data selected using a stratified sampling method with respect to a target distribution, an apply unit operable to apply the support vector machine model using the data stored in the system.

Abstract: The present invention belongs to the field of genomics and nucleic acid sequencing. It involves a novel method of sequencing biological material and real-time probabilistic matching of short strings of sequencing information to identify all species present in said biological material. It is related to real-time probabilistic matching of sequence information, and more particular to comparing short strings of a plurality of sequences of single molecule nucleic acids, whether amplified or unamplied, whether chemically synthesized or physically interrogated, as fast as the sequence information is generated and in parallel with continuous sequence information generation or collection.

Abstract: The present invention relates to generation (e.g., synthesis) of proteins. In particular, the present invention provides methods to predict miRNA targets using sequence similarity and thermodynamic stability of miRNA-bridges across both 3? and 5? UTR. Such methods find use in research, diagnostic and therapeutic settings (e.g., to discover targets, drugs, diagnostic products, etc.).

Abstract: Nucleic acid microparticles are sequenced by performing a sequencing reaction on the microparticles using one or more selectively exciting the microparticles in an excitation pattern, optically imaging the microparticles at a resolution insufficient to resolve individual microparticles, and processing the optical images of the microparticles using information on the excitation pattern to determine the presence or absence of the optical signature, which indicates the sequence information of the nucleic acid. An apparatus for optical excitation of the microparticles comprises an optical fiber delivering a first laser beam, and an interference pattern generation module coupled to the optical fiber. The interference pattern generation module splits the first laser beam into second and third laser beams and generates the excitation pattern for selectively exciting the microparticles by interference between the second and third laser beams.

Abstract: A method, a system and an apparatus for predicting and/or recognizing and/or classifying biological sequences, specially sequence families with binding site recognition motifs poorly conserved, comprising, advantageously, the use of neural networks rules; providing enhanced and more accurate results; and is preferably used when the biological sequence is a promoter.

Abstract: Personalized, health and performance programs are generated for individuals based on various biomarkers and performance and lifestyle assessments. In one embodiment, a diagnostic test of blood or other biological specimen(s) is used to determine key biological marker levels. Information and assessments of the user's physical performance, life style and health and wellness goals is also collected and provided to an expert system that matches the biomarker levels and assessments to a knowledgebase of scientific knowledge about biomarker levels and health and fitness outcomes. Personal recommendations and advice on nutrition and exercise is then generated, which may be used to help individuals reach their diet, fitness, and wellness goals and improve their physical and mental performance and well being in measurable ways.

Abstract: Various embodiments perform stable gene analysis of transcriptome sequencing data. In one embodiment, a plurality of datasets each including transcriptome sequencing data are received by a processor. Each of the plurality of datasets includes a plurality of genes and a respective ranking value for each of the plurality of genes. A plurality of rank normalized input datasets is generated based on assigning, for each of the plurality of datasets, a rank to each of the plurality of genes. One or more longest increasing subsequence (LIS) of ranks are identified between each pair of the plurality of rank normalized input datasets. A set of stable genes from the plurality of genes is identified based on each of the one or more LIS of ranks across the plurality of rank normalized input datasets.

Abstract: Provided herein are methods and related compositions using short tandem repeat (STR) regions for genetic applications.

Abstract: The present invention provides an error correcting method of test sequence, which involves receiving test sequences, configuring high frequency short string list based on a preset high frequency threshold value, traversing each received test sequence, searching an area with the largest number of continuous high frequency short strings on each test sequence in combination with high frequency short string list, configuring whole left sequence and/or right sequence of high frequency short strings at left side and/or right side of searched area according to corresponding received test sequence and high frequency short string list, and constituting corresponding test sequence according to configured left and/or right sequence and searched area. The present invention also provides corresponding error correcting system of test sequence and gene assembly equipment.

Abstract: Disclosed herein are methods for determining the copy number of a chromosome in a fetus in the context of non-invasive prenatal diagnosis. In an embodiment, the measured genetic data from a sample of genetic material that contains both fetal DNA and maternal DNA is analyzed, along with the genetic data from the biological parents of the fetus, and the copy number of the chromosome of interest is determined. In an embodiment, the maternal serum is measured using a single-nucleotide polymorphism (SNP) microarray, along with parental genomic data, and the determination of the chromosome copy number is used to make clinical decisions pertaining to the fetus.

Abstract: In one aspect, the present invention provides methods of determining whether an agent is more like a partial agonist of a target molecule than a full agonist of the same target molecule. In another aspect, the present invention provides methods to select a candidate compound that may reduce blood plasma glucose concentration in a mammal. Populations of genes are provided that are useful in the practice of the present invention.

Abstract: Accurate and fast mapping of sequencing reads obtained from a targeted sequencing procedure can be provided. Once a target region is selected, alternate regions of the genome that are sufficiently similar to the target region can be identified. If a sequencing read is more similar to the target region than to an alternate region, then the read can be determined as aligning to the target region. The reads aligning to the target region can then be analyzed to determine whether a mutation exists in the target region. Accordingly, a sequencing read can be compared to the target region and the corresponding alternate regions, and not to the entire genome, thereby providing computational efficiency.

Abstract: A method for determining a replication timing footprint comprises the following steps: (a) selecting a set of chosen regions of the replication timing profile of a chromosome of an individual, (b) choosing a set of selected regions from the set of chosen regions to form a set of selected regions and a set of unused regions, (c) conducting a iterative algorithm on the set of selected regions until a domain number for the set of selected regions has decreased to a predetermined minimum, (d) determining a replication timing footprint based the set of selected regions after step (c) has been conducted, and (e) displaying the replication timing footprint to a user.

Abstract: The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are aligned to the contig. Mutations are identified based on the alignments to the reference and to the contig.

Abstract: A method and system for finding in a DNA sequence, a gene represented by an ordered set of marker strings is disclosed. Sub-strings in the DNA sequence matching each marker string are identified. In a set ordered via occurrence of the marker strings in the ordered set of marker strings, the score and position of each sub-string whose score satisfies a matching constraint is recorded. For each except the last marker string, directed links are created between each identified sub-string that matches the marker string and any identified sub-strings that match the subsequent marker string, subject to the directed links satisfying an inter-marker length constraint. Traced are all paths that connect each identified sub-string that matches the first marker string to an identified sub-string that matches the last marker string using the directed links. The paths satisfy a sequence length constraint and are stored in memory of a computer system.

Abstract: A genealogical research and record keeping system and method for identifying commonalities in haplotypes and other genetic characteristics of a biological sample of two or more individual members. Chromosomal fragments identical by descent identify family ties between siblings, parents and children and ancestors and progeny across many generations. It is particularly useful in corroborating and improving the accuracy of genealogical data and identifying previously unknown genetic relationships.

Abstract: A robust classification method for cancer detection from mass spectrometry data includes inputting the mass spectrometry data, preprocessing the spectrometry data, conducting robust feature selection, generating predictions for the test data sets using multiple data classifiers, the multiple data classifiers including artificial neural networks, support vector machines, weighted voting on data patterns, classification and regression trees, k-nearest neighbor classification, and logistic regression, and constructing and validating a meta-classifier by combining individual predictions of the multiple data classifiers to generate a robust prediction of a phenotype. The test data sets are used exclusively for validation of the meta-classifier.

Abstract: Techniques for allowing doctors and clinicians to upload genetic data associated with patients for comparison with previously-uploaded genetic data associated with other patients are described herein. These techniques may also allow doctors and clinicians to create notations associated with uploaded patient data. Both the previously-uploaded data as well as the created notations may be used by doctors and clinicians in attempting to diagnosis patients. That is, these techniques allow previously-acquired knowledge to be widely shared for the future benefit in attempting to detect genetic syndromes.

Abstract: Methods, systems, and computer readable media perform predictive modeling of gene activity. The methods may comprise obtaining the amino acid and/or nucleic acid sequence of a portion of the at least one gene from a biological sample obtained from a subject; comparing the amino acid and/or nucleic acid sequence of the portion of the at least one gene to a database of sequences for the portion of the at least one gene and for which the biological activity of the at least one gene has been evaluated; and applying a generalization of ridge regression analysis to estimate the effects of individual mutations in the at least one gene. A model is based on generalization of ridge regression (GRR) analysis to estimate the effects of individual mutations in at least one gene for the subject. At least one gene may comprise the reverse transcriptase and protease genes of an HIV vims.

Abstract: The present invention relates to systems and methods capable of characterizing populations of organisms within a sample. The characterization may utilize probabilistic matching of short strings of sequencing information to identify genomes from a reference genomic database to which the short strings belong. The characterization may include identification of the microbial community of the sample to the species and/or sub-species and/or strain level with their relative concentrations or abundance. In addition, the system and methods may enable rapid identification of organisms including both pathogens and commensals in clinical samples, and the identification may be achieved by a comparison of many (e.g., hundreds to millions) metagenomic fragments, which have been captured from a sample and sequenced, to many (e.g., millions or billions) of archived sequence information of genomes (i.e., reference genomic databases).

Abstract: The present invention relates to a method for optimizing the assembled result of sequencing data using a genetic map. In particular, provided in the present invention is a new method for assembling individual sequenced segments, which comprises the step of constructing the genetic map with a genetic marker. Furthermore, also provided in the present invention is a method for assembling the individual sequenced segments into a genome sequence, such as a chromosome sequence.

Abstract: Methods for determining the copy number of a genomic region at a detection position of a target sequence in a sample are disclosed. Genomic regions of a target sequence in a sample are sequenced and measurement data for sequence coverage is obtained. Sequence coverage bias is corrected and may be normalized against a baseline sample. Hidden Markov Model (HMM) segmentation, scoring, and output are performed, and in some embodiments population-based no-calling and identification of low-confidence regions may also be performed. A total copy number value and region-specific copy number value for a plurality of regions are then estimated.

Abstract: A technique is disclosed for performing sequencing of polymers such as DNA and RNA. A sample containing multiple sites to be sequenced is cyclically subjected to attachment of nucleotides, and imaging. A digital mask corresponding to sites of interest in the sample array is generated and image data for the sites is processed differently from image data not corresponding to sites of interest. The latter may be discarded during the sequencing operation. The use of the mask improves computational efficiency and reduces memory allocated for the image data during sequencing.

Abstract: The present invention provides algorithm-based molecular assays that involve measurement of expression levels of genes, or their co-expressed genes, from a biological sample obtained from a prostate cancer patient. The genes may be grouped into functional gene subsets for calculating a quantitative score useful to predict a likelihood of a clinical outcome for a prostate cancer patient.