74 results about "Structural variant" patented technology

An optical system for lighting fixtures uses light emitting diodes arranged in a 2-D array. In one embodiment, a lighting system comprises a framework carrying a plurality of diodes, where each diode has an associated optic that projects the light with a “high,”“medium” or “low” vertical throw, as provided by prismatic “teeth” that refract and reflect light rays in a predetermined manner so that the combined illumination patterns of each diode can blend to generally uniformly illuminate a target surface without dark spots or regions. Each optic has a common primary portion and a selected secondary portion whose tooth / teeth have a “swept” geometry for better angular (vertical and / or horizontal) control of light rays. Structural variations between different secondary portions reside in various factors, including plurality of teeth, length of the tooth along the longitudinal axis A, curvature(s) in the vertical and / or horizontal directions, and angularity or tightness of curvature of the swept geometry.

The specification describes matched capacitor pairs that employ interconnect metal in an interdigitated form, and are made with an area efficient configuration. In addition, structural variations between capacitors in the capacitor pair are minimized to provide optimum matching. According to the invention, the capacitor pairs are interdigitated in a manner that ensures that the plates of each pair occupy common area on the substrate. Structural anomalies due to process conditions are compensated in that a given anomaly affects both capacitors in the same way. Two of the capacitor plates, one in each pair, are formed of comb structures, with the fingers of the combs interdigitated. The other plates are formed using one or more plates interleaved between the interdigitated plates.

The invention relates to a method for detecting multiple mutation types of a genome. A BAM file is used as an input file, a tumor tissue sample is detected, multiple mutation information of differentsample types is detected, and detection of the tumor tissue sample comprises the steps as follows: 1) detection of mononucleotide mutation; 2) detection of insertion and deletion; 3) detection of structural variants; 4) detection of complex variants. According to the method for detecting multiple mutation types of the genome, insertion and deletion are detected with a GeneReader algorithm obtainedthrough combination of a supervised method and an unsupervised method, the local comparison precision is optimized, linear growth with increase of the sequencing depth is realized in the aspect of speed, the detection effect is good, the detection result is accurate, and actual application demands can be well met.

Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.

Fiducial calibration systems and methods for precisely and accurately manufacturing a part from a workpiece, inspecting or measuring a part, and / or assembling a plurality of manufactured parts including providing a workpiece, wherein the workpiece and the associated processes are subject to environmental and structural variations, and disposing a plurality of datums on a surface of or within the workpiece. The systems and methods also including calibrating the separation distance between each of the plurality of datums to workpiece distance units and disposing the workpiece in a machine, wherein the machine is subject to environmental and structural variations. The systems and methods further including calibrating a coordinate system of the machine to the workpiece distance units, manufacturing the part from the workpiece, inspecting or measuring the part, and / or assembling the plurality of manufactured parts utilizing the calibrated machine, and intermittently recalibrating the machine to the workpiece distance units.

The invention discloses a method for detecting structural variation. The method supports structural variation recognition of RNA and DNA at the same time, and is high in sensitivity, specificity and speed and small in resource consumption. The invention further provides a complete system or device established based on the method, a computer readable storage medium and equipment.

The present invention provides for methods, reagents, apparatuses, and systems for the replication or amplification of nucleic acid molecules from biological samples. In one embodiment of the invention, the nucleic molecules are isolated from the sample, and subjected to fragmenting and joining using ligating agents of one or more hairpin structures to each end of the fragmented nucleic molecules to form one or more dumbbell templates. The one or more dumbbell templates are contacted with at least one substantially complementary primer attached to a substrate, and subjected to rolling circle replication or rolling circle amplification. The resulting replicated dumbbell templates or amplified dumbbell templates are used in numerous genomic applications, including whole genome de novo sequencing; sequence variant detection, structural variant detection, determining the phase of molecular haplotypes, molecular counting for aneuploidy detection; targeted sequencing of gene panels, whole exome, or chromosomal regions for sequence variant detection, structural variant detection, determining the phase of molecular haplotypes and / or molecular counting for aneuploidy detection; study of nucleic acid - nucleic acid binding interactions, nucleic acid - protein binding interactions, and nucleic acid molecule expression arrays; and testing of the effects of small molecule inhibitors or activators or nucleic acid therapeutics.

Methods and apparatus for providing closed-loop control over an electrochemical etching process during porous semiconductor fabrication enhance the quality of the porous semiconductor materials, especially those contained structural variations (such as porosity or morphology variations) along the thickness of said porous semiconductors. Such enhancement of the control over the electrochemical etching process is highly desired for many applications of porous semiconductor materials.

The disclosure relates to methods and systems for identifying chromosomal structural variants in a subject using chromosomal conformational capture data, relating the chromosomal structural variants to diseases or disorders, and methods of treating same.

The invention relates to a method for identifying chromosome structure variation centered on breakpoints. In particular, the present invention relates to a computer-implementable breakpoint-centric method for identifying structural variations in chromosomes. The invention also relates to a computer system or apparatus for implementing the method, and a computer-readable medium storing a computer program capable of implementing the method.

Systems and method for identifying gene fusions can obtain sequencing information for a plurality of amplicons from a nucleic acid sample. The sequencing information can include a plurality of reads that are initially partially mapped to a reference sequence. Fragments may be generated by splitting the partially mapped reads into mapped and unmapped fragments, and the fragments may be remapped to the reference sequence. Gene fusions can be identified based on reads where the first fragment maps to a first gene and the second fragment maps to a second gene.