Provided is a deep learning algorithm that analyzes fragments of biological sequences. The input for the deep learning algorithm is a biological sequence fragment of unknown origin and the output is the closest known biological genome that could share phenotypic properties with the biological species of unknown origin. The workflow thus has application for genomic classification, identification of mutations within known genomes, and the identification of the closest class for unknown species.

Provided is a deep learning algorithm that analyzes fragments of biological sequences. The input for the deep learning algorithm is a biological sequence fragment of unknown origin and the output is the closest known biological genome that could share phenotypic properties with the biological species of unknown origin. The workflow thus has application for genomic classification, identification of mutations within known genomes, and the identification of the closest class for unknown species.

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.

A system and method for optimizing the latent space in generative machine learning models, and applications of the optimizations for use in the de novo generation of molecules for both ligand-based and pocket-based generation. The ligand-based optimizations comprise a tunable reward system based on a multi-property model and further define new measurable metrics: molecular novelty and uniqueness. The pocket-based optimizations comprise an initial multi-property optimization followed up by either a seed-based optimization or a relaxed-based optimization.

A system and method for optimizing the latent space in generative machine learning models, and applications of the optimizations for use in the de novo generation of molecules for both ligand-based and pocket-based generation. The ligand-based optimizations comprise a tunable reward system based on a multi-property model and further define new measurable metrics: molecular novelty and uniqueness. The pocket-based optimizations comprise an initial multi-property optimization followed up by either a seed-based optimization or a relaxed-based optimization.

The present invention is in the technical field of bioinformatics, and the implementation of bioinformatics. Advances in technology have led to a large increase in the rate at which data, in particular in the medical domain, can be generated (from patient sources, clinical trials, and research campaigns). The researcher is thus confronted with a large amount of information, and it is difficult to discover connections in the data, and thus to improve medical knowledge, even in spite of the amount of data available. The present application proposes to process and to structure medical data using a computer-implemented semantic network, enabling undiscovered connections between experiments and data sources to be made, and to continually add new data to the semantic network. In summary, it is proposed to provide a computer-implemented method and associated system which are able to automatically provide neurological knowledge model data by annotating neural connectivity data with further data sources.

The present invention is in the technical field of bioinformatics, and the implementation of bioinformatics. Advances in technology have led to a large increase in the rate at which data, in particular in the medical domain, can be generated (from patient sources, clinical trials, and research campaigns). The researcher is thus confronted with a large amount of information, and it is difficult to discover connections in the data, and thus to improve medical knowledge, even in spite of the amount of data available. The present application proposes to process and to structure medical data using a computer-implemented semantic network, enabling undiscovered connections between experiments and data sources to be made, and to continually add new data to the semantic network. In summary, it is proposed to provide a computer-implemented method and associated system which are able to automatically provide neurological knowledge model data by annotating neural connectivity data with further data sources.

The present systems and methods introduce deep learning to de novo peptide sequencing from tandem mass spectrometry data. The systems and methods achieve improvements in sequencing accuracy over existing systems and methods and enables complete assembly of novel protein sequences without assisting databases. The present systems and methods are re-trainable to adapt to new sources of data and provides a complete end-to-end training and prediction solution, which is advantageous given the growing massive amount of data. The systems and methods combine deep learning and dynamic programming to solve optimization problems.

The present systems and methods introduce deep learning to de novo peptide sequencing from tandem mass spectrometry data. The systems and methods achieve improvements in sequencing accuracy over existing systems and methods and enables complete assembly of novel protein sequences without assisting databases. The present systems and methods are re-trainable to adapt to new sources of data and provides a complete end-to-end training and prediction solution, which is advantageous given the growing massive amount of data. The systems and methods combine deep learning and dynamic programming to solve optimization problems.

The present disclosure describes methods for determining the functional consequences of mutations. The methods include the use of machine learning to identify and quantify features of all atom molecular dynamics simulations to obtain the disruptive severity of genetic variants on molecular function.