Abstract: The present disclosure relates to the use of next generation technologies and analysis using a k-mer based approach which is depth-informed to classify microorganism and estimate abundance in single or mixed microorganismal populations in a rapid manner. The disclosure relates to methods for identifying taxa from environmentally or patient collected samples and processing these samples in a privacy-preserving manner.

Abstract: A computer-implemented method for the self-calibration of an inertial sensor. The method includes: establishing data that relate to the inertial sensor; subdividing the data into training data and test data; setting a first target accuracy value for a first artificial neural network that includes linear activation functions; training the first artificial neural network using the training data; inputting the test data into the trained first artificial neural network in order to obtain a first output value of the first artificial neural network; establishing a first output accuracy value based on a comparison result between the first output value and the test data; storing weightings and the linear activation functions of the first artificial neural network in a memory unit of the inertial sensor if the first output accuracy value is greater than the first target accuracy value, or otherwise, training the first artificial neural network again using the training data.

Abstract: Methods and systems described herein involve using long cell-free DNA fragments to analyze a biological sample from a pregnant subject. The status of methylated CpG sites and single nucleotide polymorphisms (SNPs) is often used to analyze DNA fragments of a biological sample. A CpG site and a SNP are typically separated from the nearest CpG site or SNP by hundreds or thousands of base pairs. Finding two or more consecutive CpG sites or SNPs on most cell-free DNA fragments is improbable or impossible. Cell-free DNA fragments longer than 600 bp may include multiple CpG sites and/or SNPs. The presence of multiple CpG sites and/or SNPs on long cell-free DNA fragments may allow for analysis than with short cell-free DNA fragments alone. The long cell-free DNA fragments can be used to identify a tissue of origin and/or to provide information on a fetus in a pregnant female.

Abstract: Systems, methods, and other embodiments associated with associated with unified pipeline flow with common and phase-specific paths are described. In one embodiment, a method includes accepting, through a graphical user interface, a setting of a phase-specific link type for a link between nodes of a pipeline, wherein the phase-specific link type indicates that the link is associated with a particular phase; accepting, through the graphical user interface, a selection to execute the pipeline for the phase; parsing the pipeline to determine an execution set of nodes for execution in the phase based on the nodes being connected with links having either the link type or a default link type common to all phases; and executing the pipeline for the phase by executing the execution set of nodes, and not executing nodes not included in the set of nodes.

Abstract: Aspects of the invention relates to methods and compositions that are useful to reduce bias and increase the reproducibility of multiplex analysis of genetic loci. In some configurations, predetermined preparative steps and/or nucleic acid sequence analysis techniques are used in multiplex analyses for a plurality of genetic loci in a plurality of samples.

Abstract: System and method for constructing a hierarchical index table usable for matching a search sequence to reference data. The index table may be constructed to contain entries associated with an exhaustive list of all subsequences of a given length, wherein each entry contains the number and locations of matches of each subsequence in the reference data. The hierarchical index table may be constructed in an iterative manner, wherein entries for each lengthened subsequence are selectively and iteratively constructed based on the number of matches being greater than each of a set of respective thresholds. The hierarchical index table may be used to search for matches between a search sequence and reference data, and to perform misfit identification and characterization upon each respective candidate match.

Abstract: The present invention relates to a method for compressing genomic data, whereby the genomic data are stored in at least one data file containing at least a plurality of reads built by a genome sequencing method, whereby each read includes a mapping position, a CIGAR string and an actual sequenced nucleotide sequence as a local part of the donor genome, comprising the steps: —unwind a nucleotide sequence of a current read of one of said data files by using the mapping position and the CIGAR string of said current read, whereby said current read has at least one previous read, —compute a difference between the unwound nucleotide sequence of said current read and an unwound nucleotide sequence of at least one of said previous reads, whereby said difference contains the differences of the mapping positions and the nucleotide sequences, —pass said computed difference to an entropy coder to compress said difference, —encode said current read by the compressed difference, and —repeat the forgoing steps with said cur

Abstract: An exemplary system, method and computer-accessible medium for multiplexing base-calling of a plurality of nucleic acid molecules in the same flow cell is provided. When multiplexing for just two nucleic acid molecules, it can operate by selecting a first base call for a first nucleic acid molecule and a second base call for a second nucleic acid molecule, after having placed them in the same flow cell and obtaining the combined raw intensity output. It can use as prior the appropriate reference genome sequences from which the nucleic acid molecules can be derived in order to create a score function, which can additionally be constrained by various penalty functions. It can derive accuracy and speed by using a branch and bound strategy as well as by performing alignment and base-calling in one step per cycle.

Abstract: A machine-learned model can be trained on and applied to oligonucleotide data. The machine-learned model can be, for example, a neural network, a random forest classifier, or a regression model, and can be trained in one or more stages. The machine-learned model can be applied in design settings, for instance by being configured to predict biophysical effects corresponding to oligonucleotides, by processing real-world experimental or laboratory data, and by retraining the machine-learned model in response to the processed data.

Abstract: Displaying an indication of ancestral data is disclosed. An indication that a genetic interval corresponds to a reference interval that has a likelihood of having one or more ancestral origins is received. One or more graphic display parameters are determined based at least in part on the indication. An indication of the one or more ancestral origins is visually displayed using the one or more graphic display parameters.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: Systems, apparatus, and methods are provided for determining aberrations in a biological sample from an organism. Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Imbalances can be used to diagnose a patient for cancer, prognosticate a patient with cancer, or to detect the presence or monitor progress of a premalignant condition. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).

Abstract: A method of identifying and quantifying copy number variations in a gene of interest for a genomic DNA sample includes (i) fragmenting a genomic DNA sample to produce a plurality of polynucleotide fragments, (ii) isolating a plurality of target polynucleotide fragments, (iii) sequencing the plurality of target polynucleotide fragments, (iv) aligning fragment sequences to a reference sequence, (v) calculating read depths for base positions of the plurality of target polynucleotide fragments, (vi) calculating copy number likelihoods for each base position of the reference sequence, (vii) performing a breakpoint analysis on a set of fragment sequences to identify at least one sequence variation located between selected breakpoint regions of the target gene and calculate modified copy number likelihoods for base positions of the reference sequence based on the at least one sequence variation, and (viii) determining whether the target gene includes at least one copy number variation.

Abstract: The present invention relates to genomic informatics and gene-expression profiling. Gene-expression profiles provide complex molecular fingerprints regarding the relative state of a cell or tissue. Similarities in gene-expression profiles between organic states provide molecular taxonomies, classification, and diagnostics. Similarities in gene-expression profiles resulting from various external perturbations reveal functional similarities between these perturbagens, of value in pathway and mechanism-of-action elucidation. Similarities in gene-expression profiles between organic and induced states may identify clinically-effective therapies. Systems and methods herein provide for the measurement of relative gene abundances, including unbiased selection of and construction of probes and targets designed and methods for using known properties of sparsity of measurements to reach gene abundances.

Abstract: The invention relates to a method for processing large multiplexed image data of a biological sample, the method comprising the steps of, recording a plurality of images of a biological sample, wherein the plurality of images comprises images having a different entity of the biological sample targeted with a predefined stain, determining spatially corresponding image pixels in the plurality of registered images, associating the spatially corresponding image pixels to a pixel profile, wherein each pixel profile comprises the pixel values of the spatially corresponding pixels and wherein the pixel profile is associated with the respective image coordinate of the spatially corresponding pixels, pooling the pixel profiles by means of a clustering method configured to determine pixel profiles with similar values, and thereby generating a plurality of clusters, each comprising pixel profiles with similar pixel values, for each cluster assigning a cluster value to the image coordinate of the pixel profiles comprised

Abstract: Exemplary systems and methods for selecting from population of candidate edits and predicting an aggregate effect of the candidate edits are disclosed. One exemplary method includes identifying a population of candidate edits to a genomic sequence of said organism and ranking each of the candidate edits based on a predicted ability of each candidate edit to affect a trait of interest in said organism. The exemplary method further includes selecting one or more of the candidate edits based on the ranking and predicting, by the computing device, an aggregate effect of the selected one or more of the candidate edits for the trait of interest when expressed by a specimen of the organism having a genomic sequence and edited according to the selected one or more of the candidate edits, as compared to an unedited specimen of the organism.

Abstract: A system is provided that considers allele fraction shifts as a function of copy number and clonal heterogeneity. The system leverages differences between allele frequencies to differentiate between somatic and normal variants in impure tumor samples. In solid tumors, stromal cells and infiltrating lymphocytes are typically interspersed among the tumor cells. The normal cell contamination in tumors can be leveraged to differentiate somatic from germline variants. We explicitly model allelic copy number and clonal sample fractions so that we can examine how these factors impact the power to detect somatic variants. The system models the copy number alterations, which can also affect the allele frequencies of both somatic and germline variants. The expected allele frequencies can be calculated. The expected allele frequencies for somatic and germline differ with tumor content for different copy number alterations.

Abstract: A machine learning system and method for somatic mutation discovery are provided that provides improved identification of tumor-specific mutations. The improved identification of tumor-specific mutations may affect discovery of alterations and therapeutic management of cancer patients.

Abstract: A processing system uses a Bayesian inference based model for targeted sequencing or variant calling. In an embodiment, the processing system generates candidate variants of a cell free nucleic acid sample. The processing system determines likelihoods of true alternate frequencies for each of the candidate variants in the cell free nucleic acid sample and in a corresponding genomic nucleic acid sample. The processing system filters or scores the candidate variants by the model using at least the likelihoods of true alternate frequencies. The processing system outputs the filtered candidate variants, which may be used to generate features for a predictive cancer or disease model.

Abstract: In an aspect, a method for detecting the presence or absence of cancer in a subject comprises: (a) obtaining samples from the subject from different time points, wherein a first sample obtained at first time point is a polynucleotide sample from a tumor tissue specimen and a second sample obtained at second time point is a cell-free polynucleotide sample from a blood sample; (b) processing polynucleotides from each of the samples, comprising: i) tagging at least a portion of the polynucleotides, thereby generating tagged parent polynucleotides; ii) amplifying at least a portion of the tagged parent polynucleotides to generate progeny polynucleotides; iii) enriching at least a portion of the progeny polynucleotides for target genomic regions; thereby generating enriched polynucleotides; and iv) sequencing at least a portion of the enriched polynucleotides to generate sequencing reads; and (c) analyzing genomic regions for at least one epigenetic feature from the sequencing reads.

Abstract: Introduced here is an approach to further refining an initial set of target locations that can serve as inputs to machine learning mechanisms. These target locations may refer to unique molecular positions in a reference human genome and/or mutations thereof that are diagnostically relevant for a given cancer type. The system can implement a refinement mechanism to account for unnecessary or problematic data, such as consecutive/overlapping patterns, non-uniform read counts, insufficient data quality, internal processing noises, and/or insufficient data counts.

Abstract: An apparatus for estimating a physical state of a movable object includes a processor receiving or determining a probability mass function including probabilities for each of a first group of at least two movement classes, wherein the movement models of the first group being determined using sensor data from the inertial measurement unit. The processor receives at least one additional probability mass function associated with a second group of at least two movement classes, wherein the additional probability mass function has been obtained using additional information different from the sensor data.

Abstract: Described herein is an unbiased method of identifying tumor rejection mediating neoepitopes (TRMNs). Putative neoepitopes from a cancer cell exome sequence from a cancer patient are putative neoepitopes are unbiased by MHC binding and/or CD8T* reactivity. By plotting the putative neoepitope IC50s on one axis, and the non-mutated amino acid sequence IC50s on a perpendicular axis to provide a bivariate scatter plot, novel TRMNs are identified TRMNs the neoepitopes in the bivariate scatter plot which are in the space greater than 501 nM on the x-axis and greater than 501 nM on the y-axis. Peptides and nucleic acids for expressing peptides including the TRMNs are also described.

Abstract: A genomic data analyzer system method to analyze next generation sequencing genomic data from a sourcing laboratory. The method includes receiving, with a processor, a next generation sequencing analysis request from a sourcing laboratory, the next generation sequencing request comprising at least a raw next generation sequencing data file and the sourcing laboratory identification; identifying, with a processor, a first set of characteristics associated with the next generation sequencing analysis request, the first set of characteristics comprising at least a target enrichment technology identifier, a sequencing technology identifier, and a genomic context identifier; configuring, with a processor, a data alignment module to align the input raw sequencing data file in accordance with at least one characteristic of said first set of characteristics; and aligning, with the data alignment module processor, the input sequencing data to a genomic sequence.

Abstract: The disclosed embodiments concern methods, systems and computer program products for determining sequences of interest using unique molecular indexes (UMIs) that are uniquely associable with individual polynucleotide fragments, including sequences with low allele frequencies or long sequence length. In some implementations, the UMIs include variable-length nonrandom UMIs (vNRUMIs). Methods and systems for making and using sequencing adapters comprising vNRUMIs are also provided.

Abstract: A registration apparatus is configured to access a network formed of a set of first nodes and first edges, the first nodes each representing a first feature vector including a plurality of elements, the first edges each coupling two first nodes representing two first feature vectors to each other based on two first feature vectors, a processor in the registration apparatus is configured to execute: obtaining processing of obtaining a second feature vector; and registration processing of registering a second node representing the second feature vector to the network based on a similarity relationship among third feature vectors in a set of third feature vectors included in the set of first feature vectors, and coupling the second node and a third node representing the third feature vector to each other with a second edge, the number of third feature vectors being smaller than the number of first feature vectors.

Abstract: Illustrative embodiments of systems and methods for the identification of traits associated with DNA samples using epigenetic-based patterns detected via massively parallel sequencing (MPS) are disclosed. Illustrative embodiments may involve digesting a DNA sample with a methylation-dependent endonuclease, amplifying loci of the digested DNA sample (including a positive control locus that does not contain a restriction site for the methylation-dependent endonuclease) using a multiplex PCR to produce amplicons, sequencing the amplicons using an MPS instrument to generate sequence reads, determining a sequence count for each of the loci by comparing each of the sequence reads to reference sequences, normalizing the sequence count for each of the loci to the sequence count of the positive control locus, and identifying a trait associated with the DNA sample by applying a classification algorithm to the normalized sequence counts.

Abstract: Systems and methods for variant calling in single molecule sequencing from a genomic dataset using a convolutional deep neural network. The method includes: transforming properties of each of the variants into a multi-dimensional tensor; passing the multi-dimensional tensors through a trained convolutional deep neural network to predict categorical output variables, the convolutional deep neural network minimizing a cost function iterated over each variant, the convolutional deep neural network trained using a training genomic dataset including previously identified variants, the convolutional neural network including: a plurality of pooled convolutional layers and at least two fully-connected layers connected sequentially after the last of the pooled convolutional layers, the at least two fully-connected layers comprising a second fully-connected layer connected sequentially after a first fully-connected layer; and outputting the predicted categorical output variables.

Abstract: The invention provides methods for identifying rare variants near a structural variation in a genetic sequence, for example, in a nucleic acid sample taken from a subject. The invention additionally includes methods for aligning reads (e.g., nucleic acid reads) to a reference sequence construct accounting for the structural variation, methods for building a reference sequence construct accounting for the structural variation or the structural variation and the rare variant, and systems that use the alignment methods to identify rare variants. The method is scalable, and can be used to align millions of reads to a construct thousands of bases long, or longer.

Abstract: Provided herein is technology relating to detecting neoplasia and particularly, but not exclusively, to methods, compositions, and related uses for detecting premalignant and malignant neoplasms such as pancreatic and colorectal cancer.

Abstract: Various techniques for accelerating Smith-Waterman sequence alignments are provided. For example, threads in a group of threads are employed to use an interleaved cell layout to store relevant data in registers while computing sub-alignment data for one or more local alignment problems. In another example, specialized instructions that reduce the number of cycles required to compute each sub-alignment score are utilized. In another example, threads are employed to compute sub-alignment data for a subset of columns of one or more local alignment problems while other threads begin computing sub-alignment data based on partial result data received from the preceding threads. After computing a maximum sub-alignment score, a thread stores the maximum sub-alignment score and the corresponding position in global memory.

Abstract: Technical solutions for mapping long nucleic acid sequence reads to a target sequence are provided. A directed graph, representing all or some of a genome and comprising one or more nonlinear topological components, is obtained for an organism having a heterozygous genome. Each nonlinear topological component has an initiating node and a terminal node connected by at least a first branch and a second branch. One of these branches corresponds to the target sequence. The directed graph uses a plurality of sequence reads from a biological sample of the organism. The sequence reads are overlapped by an unrestricted overhang amount, provided there is a minimum consensus region between each two sequence reads. A query sequence, encompassing at least the initiating node or the terminal node of a first nonlinear topological component, is obtained. The directed graph is used to form a mapping of the query sequence to the directed graph.

Abstract: The present disclosure provides a method for enriching for multiple genomic regions using a first bait set that selectively hybridizes to a first set of genomic regions of a nucleic acid sample and a second bait set that selectively hybridizes to a second set of genomic regions of the nucleic acid sample. These bait set panels can selectively enrich for one or more nucleosome-associated regions of a genome, said nucleosome-associated regions comprising genomic regions having one or more genomic base positions with differential nucleosomal occupancy, wherein the differential nucleosomal occupancy is characteristic of a cell or tissue type of origin or disease state.

Abstract: The present invention relates to a system and methods for displaying genomic and clinical information. More specifically, the invention is directed to a system for collecting, displaying, and modeling an individual's genomic makeup, physiological characteristics, healthcare history, and lifestyle to enable personalized medicine, better understand the transition from health to disease, and identify additional risk factors for disease. Certain embodiments of the system facilitate generating and displaying a patient record on a graphical user interface. Additionally, embodiments of the invention allow users through the use of user interface to annotate, augment, and overall interact with the clinically more accurate and detailed user interface.

Abstract: The present disclosure describes a method of foreground segmentation and nucleus ranking for scoring dual ISH images. The method has been developed to better identify those nuclei, within a selected field of view, that meet the criteria for dual ISH scoring.

Abstract: A graph display device includes: a display unit; and at least one processor, wherein the at least one processor is configured to convert a mathematical formula including two variables into a three-dimensional graph formula and display the three-dimensional graph formula on the display unit as a first three-dimensional graph.

Abstract: Displaying an indication of ancestral data is disclosed. An indication that a genetic interval corresponds to a reference interval that has a likelihood of having one or more ancestral origins is received. One or more graphic display parameters are determined based at least in part on the indication. An indication of the one or more ancestral origins is visually displayed using the one or more graphic display parameters.

Abstract: A method of detecting biomarkers using an artificial intelligence (AI) deep learning model for conversion data of nucleotide sequences and mutations of population genomes, the method including: collecting nucleotide sequences and mutations of population genomes; generating conversion data by reflecting mutations of diploid genomes in the collected nucleotide sequences; performing an artificial intelligence (AI) deep learning model with the generated conversion data; generating a fully connected network (FCN) by connecting the results obtained by the machine learning; and extracting biomarkers by the learned model.

Abstract: The present inventors have surprisingly found that a deoxyhypusine synthase (DHPS) gene, which was previously reported to correlate with prostate cancer and cervical cancer, is highly responsive to arteriosclerosis or digestive system cancer, whereby the gene can be used as a desired marker for arteriosclerosis or digestive system cancer. The present invention has been accomplished on the basis of this finding. Specifically, the present invention provides a method for determining arteriosclerosis or digestive system cancer, which method includes detecting expression of a deoxyhypusine synthase gene in a test sample (preferably a blood sample), and determining arteriosclerosis or digestive system cancer of a test subject from which the test sample has been obtained, on the basis of an increase in the gene expression as an index.

Abstract: An information processing apparatus includes an input, a blood-relative list generator, a similar image searcher, and a suspect information generator. The input receives DNA information of a suspect and facial image relating to a plurality of facial images. The blood relative list generator generates a list of blood relatives who are presumed to be blood relatives of the suspect from a plurality of pieces of DNA information. The similar image searcher calculates degree of similarity between facial images of persons on the blood-relative list and each of the plurality of facial images, and searches for and retrieves a facial image resembling the image of the person on the blood-relative list based on the calculated degree of similarity. The suspect information generation part generates suspect information by associating information relating to the retrieved facial image with information relating to the person on the blood-relative list who resembles the retrieved facial image.

Abstract: A system and related method exchange medical information with a medical management system. The method comprises receiving, using a processor of a code point resolver, from the medical management system, medical text via a network interface. A code point is a single standardized medical terminology code (SMTC) that corresponds to a medical concept contained within the medical text. The method further applies rule-based logic to process the medical text to form a localized mapping of a text portion of the medical text to a plurality of candidate SMTCs (CSMTCs) that are related to at least one metathesaurus concept entity (MCE) in a metathesaurus, and to determines the code point from the CSMTCs. The method transmits, via the network interface, to the medical management system, the code point.

Abstract: A method for identifying a pathogen contained in a metagenomic sample and for identifying pathogenic markers in the genome of the pathogen includes: processing the sample to extract DNA from pathogens, sequencing the extracted DNA, thereby producing a set of reads, comparing the reads to a database of genomes of known pathogens to assign reads to the pathogens; producing a pool of reads and assembling them to produce contigs, comparing the contigs to a second database of markers to check whether they contain a marker. The method further includes the step of comparing the reads to the second database to assign reads to the markers, a read being assigned to a marker if it falls entirely into or is astride the marker, and the pool also includes the reads assigned to the markers, the contigs thereby being assembled from reads assigned to a pathogen and reads assigned to markers.

Abstract: An example device includes processing circuitry and a memory. The memory includes instructions that cause the device to perform various functions. The functions include receiving datastreams from a plurality of sensors of a high performance computing system, classifying each datastream of the each sensor to one of a plurality of datastream models, selecting an anomaly detection algorithm from a plurality of anomaly detection algorithms for each datastream, determining parameters of the each anomaly detection algorithm, determining an anomaly threshold for each datastream, and generating an indication that the sensor associated with the datastream is acting anomalously.

Abstract: A method, software, database and system for attribute partner identification and social network based attribute analysis are presented in which attribute profiles associated with individuals can be compared and potential partners identified. Connections can be formed within social networks based on analysis of genetic and non-genetic data. Degrees of attribute separation (genetic and non-genetic) can be utilized to analyze relationships and to identify individuals who might benefit from being connected.

Abstract: Methods and systems for single molecule sequencing using concatemers of copies of sense and antisense strands. Concatemers are provided, for example, by carrying out rolling circle amplification on a circular molecule having sense and antisense regions to produce repeated copies of the sense and antisense regions connected by linking regions. The circular molecules can be produced by ligating hairpin adapters to each end of a double-stranded nucleic acid having a sense and antisense strand. The ligations can be carried out, for example using blunt end ligation. In some cases, a single molecule consensus sequence for a single template molecule is obtained. A single read from each template molecule can be obtained by comparing the sequence information of the sense and antisense regions.

Abstract: Methods and computer apparatuses are disclosed for processing genomic data in at least partially automated workflows of modules. A method comprises: specifying a source from which nucleic acid sequence(s) are to be obtained; selecting module(s) for processing data, including at least one module for processing the one or more nucleic acid sequences; presenting, in a graphical user interface, graphical components representing the source and the module(s) as nodes within a workspace; receiving, via the graphical user interface, inputs arranging the source and the module(s) as a workflow comprising a series of nodes, the series indicating, for each particular module, that output from one of the source or another particular module is to be input into the particular module; generating an output for the workflow based upon the nucleic acid sequence(s) by processing each module in an order indicated by the series.

Abstract: The present systems and methods are directed to de novo identification of peptide sequences from tandem mass spectrometry data. The systems and methods uses unconverted mass spectrometry data from which features are extracted. Using unconverted mass spectrometry data reduces the loss of information and provides more accurate sequencing of peptides. The systems and methods combine deep learning and neural networks to sequencing of peptides.

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

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 of measuring body fluid content, the method comprising computer executed steps, the steps comprising: receiving a value of a temperature of a body part of a subject, and generating corrective data based on the received measured temperature value and on previously gathered data, the corrective data being usable for correcting a measurement of content of a fluid sample taken from the body part.