Abstract: Methods and systems are provided for improved detection of a relatively large predefined deletion using short read exome sequencing. Short read exome sequences of continuous exomes segments of a genome may be obtained each having a length of base pairs that is less than or equal to a threshold value. A target sequence of a reference genome may be stored that has a predefined deletion of a reference sequence having a length of base pairs that is relatively larger than the threshold value, such that a segment positioned after the deletion is shifted to abut a segment positioned prior to the deletion. Instances of short read exome sequences may be detected that straddle both the segment positioned after the deletion and the segment positioned prior to the deletion, wherein both segments falling within the relatively shorter length of the short read exome sequences indicates that the deletion has occurred.

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: A system, device and method for receiving multiple aligned genetic sequences obtained from genetic samples of multiple organisms of one or more different species. A measure of evolutionary variation may be computed for one or more alleles at each of one or more aligned genetic loci. The aligned genetic loci in the multiple organisms may be derived from one or more common ancestral genetic loci or may be otherwise related. The measure of evolutionary variation may be a function of variation in alleles at corresponding aligned genetic loci in the multiple aligned genetic sequences. One or more likelihoods may be computed that an allele mutation at each of the one or more genetic loci in a simulated virtual progeny will be deleterious based on the measure of evolutionary variation of alleles at the corresponding aligned genetic loci for the multiple organisms.

Abstract: A system, device and method for receiving multiple aligned genetic sequences obtained from genetic samples of multiple organisms of one or more different species. A measure of evolutionary variation may be computed for one or more alleles at each of one or more aligned genetic loci. The aligned genetic loci in the multiple organisms may be derived from one or more common ancestral genetic loci or may be otherwise related. The measure of evolutionary variation may be a function of variation in alleles at corresponding aligned genetic loci in the multiple aligned genetic sequences. One or more likelihoods may be computed that an allele mutation at each of the one or more genetic loci in a simulated virtual progeny will be deleterious based on the measure of evolutionary variation of alleles at the corresponding aligned genetic loci for the multiple organisms.