Abstract: Decapping system and methods of performing a decapping process for screw cap test tubes. In an embodiment, a method comprises loading a test tube rack in a rack holder that holds the test tube rack stationary, where the test tube rack holds the screw cap test tubes aligned in a row. The method further comprises clamping the row of the screw cap test tubes between a pair of jaw members of a row clamp, where clamp surfaces of the jaw members apply a force to opposing sides of the row of the screw cap test tubes. The method further comprises successively contacting screw caps of the screw cap test tubes in the row with a rotating bit of a decapper tool to spin the screw caps in a loosening direction.

Abstract: Systems and methods herein provide for access control to information in electronic patient records. One method includes receiving a request from an entity for access to one or more of a plurality of electronic patient records, the records having been machine learned to identify patient information in the electronic patient records including personally identifiable information and protected health information. The method also includes determining a level of access of the entity, retrieving, from a database, the one or more electronic patient records requested by the entity, applying a rule to the retrieved one or more electronic patient records based on the determined level of access of the entity to mask, encrypt, show, etc. one or more elements in the one or more electronic patient records. In response to applying the rule to the retrieved one or more electronic patient records, the electronic patient records are transferred to the entity.

Abstract: Systems and methods are provided for trait prediction coordination. One embodiment is a method that includes launching a genomics application at a user device, receiving a command to present a partner application within the genomics application, selecting characteristics to predict for an individual, based on an identifier that distinguishes the partner application from other partner applications, operating polygenic models that generate predictions for the characteristics based on genetic records for the individual, acquiring media for the partner application, based on the predictions, and operating the partner application to update a display at the user device with the media, thereby providing the predictions in a format specific to the partner application.

Abstract: Systems and methods herein provide for rapid patient information to healthcare providers such that the healthcare providers can make more informed diagnoses. One method includes storing gene sequencing data and called genetic variants of a patient in a data structure. The method also includes receiving a request from a healthcare provider for results of a test that reports at least a portion of the called genetic variants in relation to a diagnosis of the patient by the healthcare provider, and delivering the results of the test to the healthcare provider if a quality control value of said at least a portion of the called genetic variants meets or exceeds a predetermined threshold of quality for assisting the healthcare provider.

Abstract: Apparatus and method of managing genomic sequencing data. In an embodiment, a data management controller is communicatively coupled to an external data repository over a communication network. The data management controller is configured to detect a first event triggering initial analysis on raw sequence data encoded in a standard file format and stored in the external data repository. The data management controller is configured to launch one or more analysis tools to perform the initial analysis on the raw sequence data stored in the external data repository, and to output initial analysis results. The data management controller is configured to determine whether the initial analysis results pass quality control, and control electronic storage of the raw sequence data when the initial analysis results pass quality control by storing the raw sequence data in archive storage, and deleting the raw sequence data from the external data repository.

Abstract: Various embodiments disclosed relate to a method of preventive care for breast cancer. A method may include analyzing sequenced genetic data originating from the patient to determine whether the patient has a qualifying variant in any of genes BRCA1, BRCA2, PALB2, ATM, and CHEK2, wherein the qualifying variant can include one or more pathogenic variants, variants of uncertain significance (VUS), or combinations thereof. In an event that the patient does not have a qualifying variant in any of genes BRCA1, BRCA2, PALB2, ATM, and CHEK2, the method can include calculating a polygenic risk score (PRS) of the patient. If the patient has a PRS lower than a predetermined threshold, the method can include classifying the patient as low risk for breast cancer.

Abstract: Apparatus and method of managing genomic sequencing data. In an embodiment, a data management controller is communicatively coupled to an external data repository over a communication network. The data management controller is configured to detect a first event triggering initial analysis on raw sequence data encoded in a standard file format and stored in the external data repository. The data management controller is configured to launch one or more analysis tools to perform the initial analysis on the raw sequence data stored in the external data repository, and to output initial analysis results. The data management controller is configured to determine whether the initial analysis results pass quality control, and control electronic storage of the raw sequence data when the initial analysis results pass quality control by storing the raw sequence data in archive storage, and deleting the raw sequence data from the external data repository.

Abstract: A genomic update system can generate a user interface from network pages based on user variant data and network services associated with the network pages. A trait data structure tracks network services for different trait categories. A given network page of a given category can be used to identify a different category and different network services and content for display to a user. Content in the trait data structure can be included in a user interface with additional contextual visualizations that allow the user to interact with the links and content via a user device, such as a handheld mobile device.

Abstract: Systems and methods are provided for controlling dissemination of genomic data. One embodiment is a system that stores genomic data. The genomic data for each individual lists genetic variants determined to exist within that individual. The system receives an access request for a segment of genomic data for an individual, analyzes an authentication token within the request, authenticates the request as belonging to an account for a user based on the authentication token, and reviews authorization directives for the individual that indicate how predefined portions of genomic data are shared. The system also transmits the segment of genomic data in response to determining that the authorization directives permit the account to access the segment of genomic data, and prevents transmission of the segment of genomic data in response to determining that the authorization directives do not permit the account to access the segment of genomic data.

Abstract: Systems and methods are provided for quality control for biological testing. One embodiment is a system that includes a liquid handler that applies samples of genetic material to a test plate comprising an array of wells, a Polymerase Chain Reaction (PCR) device that amplifies the genetic material, and an analysis device that determines, based on a change in visual appearance of each well, a numerical value indicating whether a corresponding sample is representative of a disease state. The system also includes a quality assurance server that identifies a pattern of the numerical values, and determines a likelihood of the pattern. In an event that the likelihood is less than a threshold value, the quality assurance server flags the test plate as potentially contaminated, and in an event that the likelihood exceeds the threshold value, the quality assurance server refrains from flagging the test plate as potentially contaminated.

Abstract: Systems and methods are provided for performing predictive assignments pertaining to genetic information. One embodiment is a system that includes a genetic prediction server. The genetic prediction server includes an interface that acquires records that each indicate one or more genetic variants determined to exist within an individual, and a controller. The controller selects one or more machine learning models that utilize the genetic variants as input, and loads the machine learning models. For each individual in the records: the controller predictively assigns at least one characteristic to that individual by operating the machine learning models based on at least one genetic variant indicated in the records for that individual. The controller also generates a report indicating at least one predictively assigned characteristic for at least one individual, and transmits a command via the interface for presenting the report at a display.