Abstract: The present disclosure relates to systems, non-transitory computer-readable media, and methods for generating a target-variant-reference panel comprising a target-variant position with target-variant indicators or using the target-variant-reference panel to impute a genotype call for the corresponding target variant. In particular, in one or more embodiments, the disclosed systems generate an initial reference panel including a variety of phased genomic samples of different haplotypes. The disclosed systems further add a target-variant position to the initial reference panel to indicate a presence or absence of a target variant, thereby creating a target-variant-reference panel comprising a target-variant position with target-variant indicators.

Abstract: Disclosed herein include systems, devices, and methods for calling overlapping copy number variants (CNVs) of a gene. The gene can comprise a plurality of regions. The gene can have a plurality of CNVs. Two alleles of the gene of a subject can be determined based on a number of copies of each region of the plurality of regions and all CNVs of the plurality of CNVs of the gene comprising the region.

Abstract: Disclosed herein include systems, devices, and methods for determining the total copy number of kringle IV type 2 (KIV-2) domain of LPA gene, and/or the copy number of KIV-2 domain of each allele of LPA gene, a subject from sequence reads (e.g., short reads) generated from a sample obtained from the subject.

Abstract: This disclosure describes methods, non-transitory computer readable media, and systems that can use a machine-learning to determine factors or scores indicating an error level with which a given methylation assay detects methylation of cytosine bases. For instance, the disclosed systems use a machine-learning model to generate a bias score indicating a degree to which a given methylation assay errs in detecting cytosine methylation when specific sequence contexts surround such cytosines compared to other sequence contexts. The machine-learning model may take various forms of models, including a decision-tree model, a neural network, or a combination of a decision-tree model and a neural network. In some cases, the disclosed system combines or uses bias scores from multiple machine-learning models to generate a consensus bias score.

Abstract: Disclosed herein include systems, devices, and methods for determining repeat expansion status (e.g., pathogenic, carrier, and benign) of a locus of a gene of interest (e.g., at, or at about, chr4:39348424 of hg38 for RFC1). After aligning sequence reads to a sequence graph, the number of occurrences of repeat sequences satisfying predetermined criteria and the frequency of a pathogenic repeat sequence can be determined, which are in turn used to determine a repeat expansion status.

Abstract: The present disclosure relates to systems, non-transitory computer-readable media, and methods for generating a graph reference genome customized for a particular sample genome and utilizing the customized graph reference genome to determine final nucleotide-base calls for the sample genome. To illustrate, the disclosed systems can generate a customized graph reference genome including various paths representing imputed haplotypes corresponding to a particular genomic region. Additionally, or alternatively, the disclosed system can determine and compare direct and imputed nucleotide-base calls for a sample genome as a basis for generating final nucleotide-base calls. In some such cases, the disclosed system weights (and selects between) direct nucleotide-base calls and imputed nucleotide-base calls for genomic coordinates based on sequencing metrics corresponding to the direct nucleotide-base calls or based on the variability of the genomic regions comprising the genomic coordinates.

Abstract: A method and system for charging an electronic golf ball are described herein. The system is made up of a charging apparatus and an electronic golf ball. The charging apparatus includes a holder for holding the electronic golf ball, a power transmitting apparatus mounted within the holder, the power transmitting apparatus encircling an area where the electronic golf ball is located when the electronic golf ball is to be charged, and a power supply electrically connected to the power transmitting device. The electronic golf ball includes an outer shell, a ball core covered by the outer shell, a power receiving apparatus within the ball core, wherein the power receiving apparatus receives power wirelessly from the power transmitting apparatus, a printed circuit board electrically connected to the power receiving apparatus, and a battery connected to the printed circuit board.

Abstract: Disclosed herein include systems, devices, and methods for identifying recombinant variants (e.g., gene conversion variants) of genes such as GBA gene and CYP21A2 gene, the copy numbers of recombinant variants, and gene variant status (e.g., carrier, compound heterozygous, or homozygous).

Abstract: Disclosed herein include systems, devices, and methods for determining a variable number tandem repeat (VNTR) status. Haplotypes of a VNTR can be determined using long sequence reads of reference samples aligned to the VNTR in a reference. Short reads of a test sample of a test subject can be aligned to the haplotypes determined using the long sequence reads to determine a VNTR status (e.g., one or more haplotypes or a genotype of the test subject) of the test subject based on the probability indications of the haplotypes.

Abstract: A golf ball with embedded electronics to allow proximity to be tracked and to monitor golfer performance is disclosed. The golf ball comprises a processor connected to an accelerometer, communications circuitry, a spin detector, and memory, wherein the processor stores accelerometer data from the accelerometer and rotation data regarding rotation of the spin detector in the memory. The processor converts the data regarding the rotation of the spin detector into a rotation speed and a rotation direction, said rotation speed determined by a frequency of the data, and said rotation direction determined by a magnitude of the data. The communications circuitry is configured to communicate the accelerometer data, the rotation direction, and the rotation speed to a central interrogator for analysis of a golfer's performance.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for genotyping and visualizing repeat sequences such as medically significant short tandem repeats (STRs). Some implementations can be used to genotype and visualize repeat sequences each including two or more repeat sub-sequences. Some implementations provides a computer tool to generate sequence read pileups for visualizing repeat sequences for samples that have different genotypes of the repeat sequence, each sequence pileup including reads aligned to two or more different haplotypes.

Abstract: Disclosed herein include systems, devices, computer readable media, and methods for paralog genotyping, such as determining a copy number of survival of motor neuron 1 gene and genotyping cytochrome P450 family 2 subfamily D member 6 gene using a Gaussian mixture model comprising a plurality of Gaussians each representing a different integer copy number.

Abstract: A golf ball with embedded electronics to allow proximity to be tracked and to monitor golfer performance is disclosed. The golf ball comprises a processor connected to an accelerometer, communications circuitry, a spin detector, and memory, wherein the processor stores accelerometer data from the accelerometer and rotation data regarding rotation of the spin detector in the memory. The processor converts the data regarding the rotation of the spin detector into a rotation speed and a rotation direction, said rotation speed determined by a frequency of the data, and said rotation direction determined by a magnitude of the data. The communications circuitry is configured to communicate the accelerometer data, the rotation direction, and the rotation speed to a central interrogator for analysis of a golfer's performance.

Abstract: A Bluetooth chip designed to track proximity and play a sound, along with an accelerometer, that is embedded inside of a golf ball is disclosed. The technology inside the balls allows it to be found quickly through proximity and sound, and the app gives a golfer helpful analytical data.

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: A Bluetooth chip designed to track proximity and play a sound, along with an accelerometer, that is embedded inside of a golf ball is disclosed. The technology inside the balls allows it to be found quickly through proximity and sound, and the app gives a golfer helpful analytical data.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for genotyping repeat sequences such as medically significant short tandem repeats (STRs). The methods involve aligning reads to a repeat sequence represented by a sequence graph, and using the aligned reads to genotype the repeat sequence. The sequence graph is a directed graph each including at least one self-loop representing a repeat sub-sequence. In some implementations, the reads are paired end reads, and both mates of each read pair may be used to genotype the repeat sequences. Some implementations can be used to determine degenerate codon repeats. Some implementations can be used to genotype repeat sequences each including two or more repeat sub-sequences. Some implementations can be used to genotype nucleic acid sequences each including at least one repeat sub-sequence and another genetic variant such as an insertion, deletion, or substitution.

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: An induction hob has a hob plate, a plurality of induction heating coils arranged under the hob plate and a plurality of sensor coils arranged under the hob plate. The induction heating coils are rectangular, wherein at least two induction heating coils are arranged one behind the other and at least three induction heating coils are arranged one next to the other. Two adjacent induction heating coils form an adjacent region with one another in which the two induction heating coils lie with their adjacent sides. At least one sensor coil is arranged in each adjacent region, wherein precisely a single sensor coil is provided in a spacing direction from the one induction heating coil to the adjacent induction heating coil.