Abstract: Computer based methods, systems, and computer readable media for providing genomic services are provided. A request is received from a user. The request is applied to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines. Data from the applied request is integrated with results from service modules performing one or more from a group of content search, variation interpretation, and report generation to produce results for the request. The personalized data repository and supporting knowledge bases are updated based on the results of the request. Surveillance services are triggered based on one or more events.

Abstract: Computer-based methods, systems, and computer readable media for managing documents within a content repository or documents within the document subsets are provided. Documents within the content repository may be classified into one of a functional category and a clinical category. Documents are applied to a machine learning annotation and analysis module to automatically annotate the documents to indicate relationships between entities. A request is processed for the documents including one or more search terms, wherein the search terms pertain to one or more entities from a group of gene, gene variant, drug, cancer and a biomedical/clinical term. Documents satisfying the request are identified by comparing the one or more search terms to the annotations and specific sections of the documents, and determining a relevance of a document based on the comparison and a frequency of the one or more search terms in each of the specific sections. The identified documents are ranked according to custom techniques.

Abstract: A computer system processes documents in a content repository. Each document of a plurality of documents is classified into one of a functional category and a clinical category. Each document is annotated using one or more corpora to generate document annotations. Documents satisfying one or more query terms are identified by comparing each query term to the document annotations. The identified documents are ranked based on a determined relevance. Guidelines are produced based on the ranking of the identified documents. Embodiments of the present invention further include a method and program product for processing documents in a content repository in substantially the same manner described above.

Abstract: Computer-based methods, systems, and computer readable media for managing documents within a content repository or documents within the document subsets are provided. Variant annotations within the documents may be normalized to a standard nomenclature. A request is processed for the documents including one or more search terms, where the search terms pertain to one or more from a group of genes/gene variants, drugs, and cancer terms. Documents are identified that satisfy the request by comparing the one or more search terms to the normalized annotations and specific sections of the documents, and determining a relevance of a document based on the comparison and a frequency of the one or more search terms in each of the specific sections. The identified documents are ranked in accordance with a priority based on the determined relevance.

Abstract: Statistical artificial intelligence for advanced deep learning and probabilistic programming in the biosciences is provided. In various embodiments, biological data of a population is read. The biological data include molecular features of the population. A plurality of features of the population is extracted from the biological data. The plurality of features is provided to a first trained classifier to determine a subset of the plurality of features distinguishing the population. A plurality of genes associated with the subset of the plurality of features is determined. The plurality of genes is provided to a second trained classifier to determine a subset of the plurality of genes distinguishing the population. A dependence model is applied to the subset of the plurality of genes to determine one or more drug target.

Abstract: Computer based methods, systems, and computer readable media for providing genomic services are provided. A request is received from a user. The request is applied to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines. Data from the applied request is integrated with results from service modules performing one or more from a group of content search, variation interpretation, and report generation to produce results for the request. The personalized data repository and supporting knowledge bases are updated based on the results of the request. Surveillance services are triggered based on one or more events.

Abstract: A computer system processes documents in a content repository. Each document of a plurality of documents is classified into one of a functional category and a clinical category. Each document is annotated using one or more corpora to generate document annotations. Documents satisfying one or more query terms are identified by comparing each query term to the document annotations. The identified documents are ranked based on a determined relevance. Guidelines are produced based on the ranking of the identified documents. Embodiments of the present invention further include a method and program product for processing documents in a content repository in substantially the same manner described above.

Abstract: Computer-based methods, systems, and computer readable media for managing documents within a content repository or documents within the document subsets are provided. Documents within the content repository may be classified into one of a functional category and a clinical category. Documents are applied to a machine learning annotation and analysis module to automatically annotate the documents to indicate relationships between entities. A request is processed for the documents including one or more search terms, wherein the search terms pertain to one or more entities from a group of gene, gene variant, drug, cancer and a biomedical/clinical term. Documents satisfying the request are identified by comparing the one or more search terms to the annotations and specific sections of the documents, and determining a relevance of a document based on the comparison and a frequency of the one or more search terms in each of the specific sections. The identified documents are ranked according to custom techniques.

Abstract: Computer-based methods, systems, and computer readable media for managing documents within a content repository or documents within the document subsets are provided. Variant annotations within the documents may be normalized to a standard nomenclature. A request is processed for the documents including one or more search terms, where the search terms pertain to one or more from a group of genes/gene variants, drugs, and cancer terms. Documents are identified that satisfy the request by comparing the one or more search terms to the normalized annotations and specific sections of the documents, and determining a relevance of a document based on the comparison and a frequency of the one or more search terms in each of the specific sections. The identified documents are ranked in accordance with a priority based on the determined relevance.