Abstract: The present invention relates compositions and methods for microRNA (miRNA) expression profiling of colorectal cancer. In particular, the invention relates to a diagnostic kit of molecular markers for identifying one or more mammalian target cells exhibiting or having a predisposition to develop colorectal cancer, the kit comprising a plurality of nucleic acid molecules, each nucleic acid molecule encoding a miRNA sequence, wherein one or more of the plurality of nucleic acid molecules are differentially expressed in the target cells and in one or more control cells, and wherein the one or more differentially expressed nucleic acid molecules together represent a nucleic acid expression signature that is indicative for the presence of or the predisposition to develop colorectal cancer.

Abstract: An imaging visualization workstation (30) includes a graphical display device (32) and an electronic data processor, and is configured to perform a method including: spatially registering a biopsy sample extracted from a medical subject with a medical image (12) of the medical subject; combining the medical image with a graphical representation of information (20, 22) generated from the biopsy sample to generate a combined image in which the graphical representation is spatially delineated based on the spatial registration of the biopsy sample; and displaying the combined image on the graphical display device of the imaging visualization workstation. A method comprises extracting a biopsy sample spatial sample from a medical subject, processing the biopsy sample to generate biopsy information, acquiring a medical image of the subject, spatially registering the biopsy sample with the medical image, and displaying the medical image modified to include an annotation generated from the biopsy information.

Abstract: When generating visual representations of gene activity pathways for clinical decision support, a validated pathway database that stores a plurality of validated pathways is accessed, wherein each pathway describes at least one interaction between a plurality of genes. A processor (18) is configured to execute computer-executable instructions stored in a memory (16), the instructions comprising visually representing gene activity level (28) for at least one gene across a plurality of populations, retrieving a pathway (32) from the validated pathway database, wherein the pathway includes the at least one gene, and visually representing gene activity levels for all genes in the pathway.

Abstract: A parental control system provides the ability to automatically filter a multimedia program content in real time based on stock and user specified criteria. The criteria are used to teach a learning module in the system what types of video program segments are to be considered sensitive or objectionable so that the module's understanding of what is sensitive and what is not can be applied to other video programs to provide real-time filtering. The multimedia program is broken down into audio, video, and transcript components so that sound effects, visual components and objects, and language can all be analyzed collectively to make a determination of whether offending material is being passed along in the multimedia program. The user has the option of training the system for any type of objectionable material, not just sex and violence.

Abstract: In a clinical decision support method, outputs of computer-implemented analytical modules are computed for a patient. Information is displayed for the patient pertaining to a clinical question comprising outputs computed for the patient of analytical modules associated with the clinical question. The analytical modules may include modules configured to perform in silico genetic/genomic tests using genetic/genome sequencing (whole genome, whole exome, whole transcriptome, targeted gene panels, etc) or microarray data. A clinical question-module matrix (CQ-M matrix) may be generated for the patient associating clinical questions with analytical modules, and the method may further include populating the clinical questions with outputs computed for the patient of the analytical modules associated with the clinical questions by the CQ-M matrix.

Abstract: A catalog (34) of molecular marker tests specifies molecular marker tests annotated with clinical applicability annotations. An electronic patient medical record (22) stores genetic sequencing data (20) of a patient. A clinical decision support (CDS) system (30) is configured to track the clinical context of the patient wherein the clinical context includes at least a disease diagnosis and a current patient care stage. A catalog search module (32) is configured to search the catalog of molecular marker tests to identify a molecular marker test having clinical applicability to the patient in the clinical context tracked by the CDS system. The search is automatically triggered by occurrence of a trigger event defined by a set of triggering rules. A testing module (44) is configured to perform a molecular marker test identified by the identification module in silico using the genetic sequencing data of the patient stored in the electronic patient medical record.

Abstract: A method for compression and/or decompression of bio-medical images such as DNA sequencing images is provided. The method comprises regeneration of a complete image using multiple distribution functions generated on the fly. The compression ratio achieved is in the order of 10 to 20 times, and is near lossless with respect to the clinically relevant information; which makes it well suited for these DNA sequencing images.

Abstract: The present invention relates to a method for assembly of nucleic acid sequence data comprising nucleic acid fragment reads into (a) contiguous nucleotide sequence segment(s), comprising the steps of: (a) obtaining a plurality of nucleic acid sequence data from a plurality of nucleic acid fragment reads; (b) aligning said plurality of nucleic acid sequence data to a reference sequence; (c) detecting one or more gaps or regions of non-assembly, or non-matching with the reference sequence in the alignment output of step (b); (d) performing de novo sequence assembly of nucleic acid sequence data mapping to said gaps or regions of non-assembly; and (e) combining the alignment output of step (b) and the assembly output of step (d) in order to obtain (a) contiguous nucleotide sequence segment(s).

Abstract: The present invention relates to a method for processing a subject's genomic data comprising (a) obtaining a subject's genomic sequence; (b) reducing the complexity and/or amount of the genomic sequence information; and (c) storing the genomic sequence information of step (b) in a rapidly retrievable form. The present invention further relates to a method wherein the step of reducing the complexity and/or amount of the genomic sequence information is carried out by cropping said genomic sequence information except for signature data pertaining to a disease or disorder, or by aligning a subject's genomic sequence with a reference sequence comprising signature data pertaining to a disease or disorder. Furthermore, the invention relates to a method wherein the use of a subject's functional genetic information, in particular gene expression data is included, as well as to a method, wherein the information is encoded in matrices and decoded and represented based on Markov chain processes.

Abstract: The present invention relates to isolated nucleic acid molecules of SEQ ID NO: 1 to SEQ ID NO: 14 which show a single polymorphic change at position 501, where the wildtype nucleotide is replaced by an indicator nucleotide, respectively. The present invention further relates to the mentioned nucleic acid molecules wherein a panel of 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 or 14 of the polymorphic, changed sequences comprising the mentioned indicator nucleotides constitutes a marker for beta thalassemia, in particular of beta thalassemia minor. Further envisaged are specific panels comprising SEQ ID NO: 1; or SEQ ID NO 1 and 2; or SEQ ID NO: 1, 2 and 3, or SEQ ID NO: 1, 2, 3 and 4; or SEQ ID NO: 1 to 5; or SEQ ID NO: 1 to 6; or SEQ ID NO: 1 to 7; or SEQ ID NO: 1 to 14; or SEQ ID NO: 8 and 14; or SEQ ID NO: 8 and 9; or SEQ ID NO: 2, 4 and 13.

Abstract: The invention relates to selecting a set of candidate genes from a pool of genes. The method comprising receiving a set of gene data; arranging the set of gene data into a set of clusters with similar profiles by use of a clustering algorithm; and inputting the set of clusters into a genetic algorithm to select a set of candidate genes from the set of clusters. The method thus relates to hybrid between selection by clustering computation and selection by evolutionary computation. This hybrid is also referred to as an evolutionary clustering algorithm (ECA).

Abstract: The present invention relates to a method of adapting a composite signature of a phenotype. The method comprises the steps of providing for a composite signature of a phenotype with at least two different data types, which were respectively generated by two different modalities of measuring a specimen. Due to an adaption of one part of the signature of the phenotype the resulting adapted phenotype signature can be used as an input for a signature evaluation tool that was derived from data measured by a third modality of measurement.

Abstract: The present invention relates to a method for stratifying a patient into a clinically relevant group comprising the identification of the probability of an alteration within one or more sets of molecular data from a patient sample in comparison to a database of molecular data of known phenotypes, the inference of the activity of a biological network on the basis of the probabilities, the identification of a network information flow probability for the patient via the probability of interactions in the network, the creation of multiple instances of network information flow for the patient sample and the calculation of the distance of the patient from other subjects in a patient database using multiple instances of the network information flow.

Abstract: A method for compression and/or decompression of bio-medical images such as DNA sequencing images is provided. The method comprises regeneration of a complete image using multiple distribution functions generated on the fly. The compression ratio achieved is in the order of 10 to 20 times, and is near lossless with respect to the clinically relevant information; which makes it well suited for these DNA sequencing images.

Abstract: A state machine (22) stores a current state (30) comprising a clinical context defined by available patient-related information relating to a medical patient, and identifies one or more available analytical tools of a set of analytical tools (24) that are applicable to the current state. A graphical user interface module (16) receives a user selection of an available analytical tool. The state machine loads patient-related information (40) to the user-selected available analytical tool (24sel) and invokes the user-selected available analytical tool to operate on the loaded patient-related information to generate additional patient-related information relating to the medical patient and/or graphical patient-related content relating to the medical patient. The state machine transitions from the current state (30) to a next state (30?) and/or invokes the graphical user interface module to display the graphical patient related content.

Abstract: A system and method for collecting, analyzing, and using sensory reactions and involuntary or spontaneous movements by members of a television viewing (or listening) audience. While known programming is displayed on a television receiver, a plurality of sensors monitor the viewer or viewers for recognizable evidence of an emotional response that can be associated with a discrete program segment. Where positive (or negative) responses can be associated with a certain type of program content, the system monitors subsequent programs for the opportunity to notify the viewer or simply present (or avoid presenting) the program automatically.

Abstract: A method of selecting, storing and delivering desired audio/data/visual information includes the steps of determining viewing preferences of a viewer and receiving a first group of audio/data/visual signals, for example, broadcast and cable television signals or internet-based signals. Based on the first group of audio/data/visual signals, a second group of audio/data/visual signals, which is a subset of the first group of audio/data/visual signals, is identified. The second group of audio/data/visual signals is selected based on the association of EPG data for each signal with the viewing preferences of the viewer. Content data is then extracted from the second group of audio/data/visual signals and compared with the viewing preferences. The content data may include, for example, closed-captioned text, EPG data, audio information, visual information and transcript information.

Abstract: A method comprises: recording an electronic record of diagnostic events including the performing of in-vitro diagnostic tests; during the recording, identifying the performing of a licensed in-vitro diagnostic test for which license information is stored in a licenses database; and computing license compensation due to a licensor for the performing of the licensed in-vitro diagnostic test based on royalty calculation information stored in the licenses database. The recording, identifying, and computing operations are performed by one or more computers. The method may further include remitting the computed license compensation to the licensor, the remitting also being performed by one or more computers.

Abstract: A method for compression and/or decompression of bio-medical images such as DNA sequencing images is provided. The method comprises regeneration of a complete image using multiple distribution functions generated on the fly. The compression ratio achieved is in the order of 10 to 20 times, and is near lossless with respect to the clinically relevant information; which makes it well suited for these DNA sequencing images.

Abstract: The present invention relates to a method for identifying multi-modal associations between biomedical markers which allows for the determination of network nodes and/or high ranking network members or combinations thereof, indicative of having a diagnostic, prognostic or predictive value for a medical condition, in particular ovarian cancer. The present invention further relates to a biomedical marker or group of biomedical markers associated with a high likelihood of responsiveness of a subject to a cancer therapy, preferably a platinum based cancer therapy, wherein said bio-medical marker or group of biomedical markers comprises at least 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 8, 19, 20 or all markers selected from PKMYT1, SKIL, RAB8A, HIRIP3, CTNNB1, NGFR, ZCCHC11, LSP1, CD200, PAX8, CYBRD1, HOXC11, TCEAL1, FZD10,FZD1, BBS4, IRS2, TLX3, TSPAN2, TXN, and CFLAR.