Abstract:
The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality 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. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.
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:
The information management system disclosed enables caregivers to make better decisions by using aggregated data. The system enables the integration, validation and analysis of genetic, phenotypic and clinical data from multiple subjects. A standardized data model stores a range of patient data in standardized data classes comprising patient profile, genetic, symptomatic, treatment and diagnostic information. Data is converted into standardized data classes using a data parser specifically tailored to the source system. Relationships exist between standardized data classes, based on expert rules and statistical models, and are used to validate new data and predict phenotypic outcomes. The prediction may comprise a clinical outcome in response to a proposed intervention. The statistical models and methods for training those models may be input according to a standardized template. Methods are described for selecting, creating and training the statistical models to operate on genetic, phenotypic, clinical and undetermined data sets.
Abstract:
Disclosed herein are methods for determining which embryos from a group of embryos are most likely to implant and develop as desired. In an embodiment of the present disclosure, one or more cells are biopsied from each of the embryos, and the genetic condition of those cells are determined. Within a group of embryos that each test positive for aneuploidy, the likelihood that each embryo contains euploid cells may be determined from the type of aneuploidy observed in the biopsied cells. This knowledge may be used to make a decision as to which embryos to transfer to a uterus. In an embodiment of the present disclosure, these determinations are made for the purpose of embryo selection in the context of in vitro fertilization.
Abstract:
An apparatus, method, and computer-readable media comprise a receiver adapted to receive a plurality of broadcast signals; a signal processor adapted to determine a position based on the received plurality of broadcast signals; a signal generator adapted to generate a ranging signal comprising a known component of a television signal; and a transmitter adapted to broadcast a signal comprising the ranging signal and a position signal comprising a description of the position.
Abstract:
Described herein is a method and system for training nonlinear adaptive filters (or neural networks) which have embedded memory. Such memory can arise in a multi-layer finite impulse response (FIR) architecture, or an infinite impulse response (IIR) architecture. We focus on filter architectures with separate linear dynamic components and static nonlinear components. Such filters can be structured so as to restrict their degrees of computational freedom based on a priori knowledge about the dynamic operation to be emulated. The method is detailed for an FIR architecture which consists of linear FIR filters together with nonlinear generalized single layer subnets. For the IIR case, we extend the methodology to a general nonlinear architecture which uses feedback. For these dynamic architectures, we describe how one can apply optimization techniques which make updates closer to the Newton direction than those of a steepest descent method, such as backpropagation. We detail a novel adaptive modified Gauss-Newton optimization technique, which uses an adaptive learning rate to determine both the magnitude and direction of update steps. For a wide range of adaptive filtering applications, the new training algorithm converges faster and to a smaller value of cost than both steepest-descent methods such as backpropagation-through-time, and standard quasi-Newton methods. We apply the algorithm to modeling the inverse of a nonlinear dynamic tracking system 5, as well as a nonlinear amplifier 6.
Abstract:
A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available, are disclosed. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention incomplete genetic data is acquired from embryonic cells, fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals.
Abstract:
Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.
Abstract:
Apparatus having corresponding methods and computer-readable media comprise a first receiver to receive a wireless television signal; a first measurement unit to generate a measurement of the wireless television signal; wherein a position of the apparatus is determined based on the measurement of the wireless television signal; a second receiver to receive a wireless local area network (WLAN) signal; and a second measurement unit to generate a measurement of the WLAN signal; wherein a position of a transmitter of the WLAN signal is determined based on the position of the apparatus and the measurement of the WLAN signal.
Abstract:
Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.