Abstract: In accordance with an embodiment of the invention, a system and method is provided for determining a probability of a progeny having one or more phenotypes Phj each associated with a single gene Qj. A score sip may be assigned to each allele hip at a plurality of genetic loci (i) in a haploid genome profile Hp of a parent (p). A plurality (Nj) of the alleles hkp (k=1, . . . , Nj) associated with the gene Qj may be identified. The scores sip may be mapped or indexed to gene-specific scores ?j,kp associated with gene Qj for the plurality of (Nj) alleles hkp. A probability may be computed for altering the gene product from gene Qj in a progeny of the parent (p) to be a function of the gene-specific scores ?j,kp.

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

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

Abstract: A method may include generating multiple virtual progenies from multiple first virtual gametes and multiple second virtual gametes. Each virtual progeny may combine one of the first virtual gametes and one of the second virtual gametes. A computing server may input, for each virtual progeny, data associated with the first virtual gamete of the virtual progeny to a machine learning model to determine a first variant-specific gene dysfunction score corresponding to a target allele site. The computing server may also input, for each virtual progeny, data associated with the second virtual gamete of the virtual progeny to the machine learning model to determine a second variant-specific gene dysfunction score corresponding to the target allele site. The computing server may derive, for each virtual progeny, a dysfunction likelihood score of the target allele site from the first variant-specific gene dysfunction score and the second variant-specific gene dysfunction score.

Abstract: Systems and methods of improved genetic mutation carrier screening may include, for a plurality of genetically similar genes in a reference genome, the plurality of genetically similar genes comprising a functional gene and a non-functional gene, masking the non-functional gene from the reference genome; aligning a plurality of functional gene reads and a plurality of non-functional gene reads of a patient's genetic sequence to the functional gene in the reference genome; tallying, at a first polymorphic locus-of-interest on each aligned read, a respective nucleotide type, wherein functional gene reads comprise a different nucleotide type than non-functional gene reads at the first polymorphic locus-of-interest; and calculating, based at least in part on a result of the tallying, a first gene ratio, wherein the first gene ratio indicates a first ratio of functional gene reads to non-functional gene reads.

Abstract: A device, system and method for predicting gene-dysfunction caused by a genetic mutation in the genome of an organism. A neural network may comprise multiple nodes respectively associated with multiple different gene-dysfunction metrics and multiple different confidence weights. The neural network may combine the multiple gene-dysfunction metrics according to the respective associated confidence weights to generate one or more likelihoods that a genetic mutation causes gene-dysfunction in organisms. In a training-phase, the neural network may be trained using an input data set including genetic mutations to generate new gene-dysfunction metrics and new associated confidence weights that optimize the neural network based on a cost factor.

Abstract: In accordance with an embodiment of the invention, a system and method is provided for determining a probability of a progeny having one or more phenotypes Phj each associated with a single gene Qj. A score sip may be assigned to each allele hip at a plurality of genetic loci (i) in a haploid genome profile Hp of a parent (p). A plurality (Nj) of the alleles hkp (k=1, . . . , Nj) associated with the gene Qj may be identified. The scores sip may be mapped or indexed to gene-specific scores ?j,kp associated with gene Qj for the plurality of (Nj) alleles hkp. A probability may be computed for altering the gene product from gene Qj in a progeny of the parent (p) to be a function of the gene-specific scores ?j,kp.

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

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

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

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

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