Abstract: Disclosed are methods for detecting and/or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

Abstract: The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

Abstract: Disclosed are methods for detecting and/or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

Abstract: A dynamic imaging system of an endoscope that adjusts path length differences or focal points to expand a usable depth of field. The imaging system utilizes a variable lens to adjust the focal plane of the beam or an actuated sensor to adjust the detected focal plane. The imaging system is thus capable of capturing and adjusting the focal plane of separate images captured on separate sensors. The separate light beams may be differently polarized by a variable wave plate or a polarized beam splitter to allow separate manipulation of the beams for addition of more frames. These differently focused frames are then combined using image fusion techniques.

Abstract: Disclosed herein are analytical methods to predict or determine a subject's phenotype burden and/or genomic load from the subject's genome sequence variants. The disclosed methods may report a dynamically ordered list of genes or genomic regions responsible for each of one or more phenotypes. Also disclosed herein are analytical methods to convert the phenotype burden and/or genomic load into a probability or risk profile or percentile for a certain phenotype or one or more phenotypes among a plurality of phenotypes, which may be compared to a reference population.

Abstract: The present disclosure provides methods and systems for reprioritizing a first set of strings based on at least a node annotation to generate a second set of strings. One or more graphical representations comprising machine readable data in annotated nodes may be used to score a first set of strings. To score a first set of strings based on one or more node annotations, a seed node may be selected based on a node annotation corresponding to the first set of strings and a first value may be assigned to the seed node. Information may be propagated from a seed node to neighboring nodes and second values may be assigned to neighboring nodes. A score may be generated from at least a first value and a second value.

Abstract: A dynamic imaging system of an endoscope that adjusts path length differences or focal points to expand a usable depth of field. The imaging system utilizes a variable lens to adjust the focal plane of the beam or an actuated sensor to adjust the detected focal plane. The imaging system is thus capable of capturing and adjusting the focal plane of separate images captured on separate sensors. The separate light beams may be differently polarized by a variable wave plate or a polarized beam splitter to allow separate manipulation of the beams for addition of more frames. These differently focused frames are then combined using image fusion techniques.

Abstract: The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

Abstract: Disclosed are a method for determining whether an individual has an enhanced, diminished, or average probability of exhibiting one or more phenotypic attributes and related methods of selecting a set of genetic markers; for providing relevant genetic information to an individual; of evaluating the probability that progeny of two individuals of the opposite sex will exhibit one or more phenotypic attributes; and for determining the genomic ethnicity of an individual.