Abstract: A system configured to characterize a ratio of contributors to a DNA mixture within a sample, the system including: a sample preparation module configured to generate initial data about the DNA mixture within the sample; a processor comprising a ratio of contributors determination module configured to: (i) receive the generated initial data; (ii) analyze the generated initial data to determine the ratio of contributors to the DNA mixture within the sample; and an output device configured to receive the determined ratio of contributors from the processor, and further configured to output information about the received determined ratio of contributors.

Abstract: The invention relates to methods and kits for determining and optimizing a personalized treatment regimen for a subject suffering from a pathologic disorder based on calculating the value of M, that indicates the ability of said subject to eliminate said disorder. The invention specifically relates to optimization of interferon treatment of viral disorders.

Abstract: The present invention relates to methods for evaluating and/or predicting the outcome of a clinical condition, such as cancer, metastasis, AIDS, autism, Alzheimer's, and/or Parkinson's disorder. The methods can also be used to monitor and track changes in a patient's DNA and/or RNA during and following a clinical treatment regime. The methods may also be used to evaluate protein and/or metabolite levels that correlate with such clinical conditions. The methods are also of use to ascertain the probability outcome for a patient's particular prognosis.

Abstract: The redundancy in genomic sequence data is exploited by compressing sequence data in such a way as to allow direct computation on the compressed data using methods that are referred to herein as “compressive” algorithms. This approach reduces the task of computing on many similar genomes to only slightly more than that of operating on just one. In this approach, the redundancy among genomes is translated into computational acceleration by storing genomes in a compressed format that respects the structure of similarities and differences important to analysis. Specifically, these differences are the nucleotide substitutions, insertions, deletions, and rearrangements introduced by evolution. Once such a compressed library has been created, analysis is performed on it in time proportional to its compressed size, rather than having to reconstruct the full data set every time one wishes to query it.

Abstract: Processing genetic information comprises: receiving an input that includes information pertaining to a specific genetic variant; and identifying, in a database comprising genotype information of a plurality of candidate individuals, a matching individual imputed to have the specific genetic variant. The genotype information of the matching individual corresponding to the specific genetic variant is not directly assayed.

Abstract: A differential sequence object is constructed on the basis of alignment of sub-strings via incremental synchronization of sequence strings using known positions of the sub-strings relative to a reference genome sequence. An output file is then generated that comprises only relevant changes with respect to the reference genome.

Abstract: System, computer program products, and methods are disclosed for estimating a degree of ancestral relatedness between two individuals. The haplotype data for a population of individuals is divided into segment windows based on genetic markers, and matched segments for the haplotype data are generated. Each matched segment having a first cM width that exceeds a threshold cM width is included in counting the matched segments in each segment window. A weight associated with each segment window is estimated based on the count of matched segments in the associated segment window. A weighted sum of per-window cM widths for each matched segment is calculated based on the first cM width and the weights associated with the segment windows of the matched segment. The weighted sum of per-window cM widths are used to estimate a degree of ancestral relatedness between two individuals.

Abstract: Accurate measurements of the presence or absence of an analyte (e.g., MRSA) in a sample are provided. For example, the sample can be subjected to an activation reagent (potentially after an initial reagent has already been added), which can cause a flash signal that increases and then decreases over time. Signal data points can be measured from the flash signal using a detector. A quadratic regression function that fits the signal data points can be determined. An accuracy of the quadratic fit can be determined, as well as a signal-to-background ratio. A difference between a signal-to-background term and an accuracy term can be used as a score that is compared to a threshold to determine whether the analyte is present in the sample.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for determining the presence or absence of repeat expansions of interest, including repeat expansions of repeat sequences that are medically significant. Some embodiments provide methods for identifying and calling medically relevant repeat expansions using anchored reads. An anchored read is a paired end read that is unaligned to a repeat sequence under consideration, but it is paired with an anchor read that is aligned to or near the repeat sequence. Some embodiments use both anchor and anchored reads to determine the presence or absence of the repeat expansions. System, apparatus, and computer program products are also provided for determining repeat expansion implementing the methods disclosed.

Abstract: Databases and data processing systems for use with a network-based personal genetics services platform may include member information pertaining to a plurality of members of the network-based personal genetics services platform. The member information may include genetic information, family history information, environmental information, and phenotype information of the plurality of members. A data processing system may determine, based at least in part on the member information, a model for predicting a phenotype from genetic information, family history information, and environmental information, wherein determining the model includes training the model using the member information pertaining to a set of the plurality of members.

Abstract: An input genotype is divided into a plurality of windows, each including a sequence of SNPs. For each window, a diploid HMM is computed based on genotypes and/or phased haplotypes to determine a probability of a haplotype sequence being associated with a particular label. For example, the diploid HMM for a window is used to determine the emission probability that the window corresponds to a set of labels. An inter-window HMM, with a set of states for each window, is computed. Labels are assigned to the input genotype based on the inter-window HMM. Upper and lower bounds are estimated to produce a range of likely percentage values an input can be assigned to a given label. Confidence values are determined indicating a likelihood that an individual inherits DNA from a certain population. Maps are generated with polygons representing regions where a measure of ethnicity of population falls within specific ranges.

Abstract: Cancer types (e.g., organ/tissue of origin and/or cancer subtype for an organ/tissue) can be distinguished by applying statistical methods to data samples consisting of counts of somatic single nucleotide variations (SNVs) across a tumor genome of a patient. For example, a factor loading matrix for each cancer type to be distinguished can be computed using a set of training data samples for which the cancer type is known. To determine the cancer type for a testing (or diagnostic) data sample, a regression analysis over the set of factor loading matrices yields statistical parameters that can be used to identify the cancer type.

Abstract: Novel haplotype cluster Markov models are used to phase genomic samples. After the models are built, they rapidly and accurately phase new samples without requiring that the new samples be used to re-build the models. The models set transition probabilities such that the probability for an appearance of any allele within any haplotype is a non-zero number. Furthermore, the most unlikely pairs of haplotypes are discarded from each model at each level until c of the likelihood mass at each level is discarded. The models are also constructed such that contributing windows of SNPs partially overlap so that phasing decisions near one of the extreme ends of any model is are not significantly determinative of the phase. Additionally, the models are configured such that two or more nodes can be merged during the building/updating procedure to consolidate haplotype clusters having similar distributions.

Abstract: Disclosed herein are system, method, and computer program product embodiments for aiding in the interpretation of variants observed in clinical sequencing data. An embodiment operates by receiving clinical trial enrollment criteria from a user, including but not limited to genetic targeting criteria; searching a knowledge base of patient test information received from a plurality of independent entities for patients that match the clinical trial enrollment criteria; and providing to the user search results for consented patients that match the clinical trial enrollment criteria.

Abstract: Disclosed herein are system, method, and computer program product embodiments for building a community database of allele counts. An embodiment operates by receiving human variant datasets derived from samples generated by distinct users, wherein the users consented to share pooled variant observations with other users; determining that a plurality of variant observations meet the inclusion criteria for a pool; and calculating one or more anonymized allele statistics from the pool.

Abstract: A system for providing structural variation or phasing information is provided. The system accesses a nucleic acid sequence dataset corresponding to a target nucleic acid in a sample. The dataset comprises a header, synopsis, and data section. The data section comprises a plurality of sequencing reads. Each sequencing read comprises a first portion corresponding to a subset of the target nucleic acid and a second portion that encodes an identifier for the sequencing read from a plurality of identifiers. One or more programs in the memory of the system use a microprocessor of the system to provide a haplotype visualization tool that receives a request for structural variation or phasing information from the dataset. The request is evaluated against the synopsis thereby identifying portions of the data section. Structural variation or phasing information is formatted for display in the haplotype visualization tool using the identified portions of the data section.

Abstract: Displaying a comparison of genetic data is disclosed, including receiving an indication of a first individual, receiving an indication of a second individual, retrieving the genotypic information for the first individual and the second individual, comparing the genotypic information of the first individual and the second individual, displaying an indication of the comparison of the genotypic information of the first individual and the second individual graphically. A first graphical symbol is used to display an indication of the genome regions for which the first individual and the second individual are identical. A second graphical symbol is used to display an indication of the genome regions for which the first individual and the second individual are half identical.

Abstract: A biosensor system determines analyte concentration from an output signal generated from a light-identifiable species or a redox reaction of the analyte. The biosensor system compensates at least 50% of the total error in the output signal with a primary function and compensates a portion of the remaining error with a residual function. The amount of error compensation provided by the primary and residual functions may be adjusted with a weighing coefficient. The compensation method including a primary function and a residual function may be used to determine analyte concentrations having improved accuracy from output signals including components attributable to error.

Abstract: A system and method for performing similarity searching is disclosed wherein programmable logic devices such as field programmable gate arrays (FPGAs) can be used to implement Bloom filters for identifying possible matches between a query and data. The Bloom filters can be implemented in a parallel architecture where the different parallel Bloom filters share access to the same memory units. Further, a hash table may be generated to map a set of strings to keys. In other examples, the hash table may be used to map a set of substrings to a position in a larger string.

Abstract: An input sample SNP genotype is divided into a plurality of windows, each including a sequence of SNPs. For each window, a diploid hidden Markov Model (HMM) is built and from a haplotype Markov Model (MM). The diploid HMM for a window is used to determine the probability that the window corresponds to a pair of labels (e.g., ethnicity labels). An inter-window HMM, with a set of states for each window, is built based on the diploid HMMs for each window. Labels are assigned to the input sample genotype based on the inter-window HMM.