Disclosed herein are system, method, and computer program product embodiments for optimizing the determination of a phenotypic impact of a molecular variant identified in molecular tests, samples, or reports of subjects by way of regularly incorporating, updating, monitoring, validating, selecting, and auditing the best-performing evidence models for the interpretation of molecular variants across a plurality of evidence classes.

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.

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.

A computer-implemented method for learning novel relationships among various entities, including biological entities such as chemicals, proteins, and diseases, includes establishing a knowledge graph wherein each of the entities is represented as a node and each relationship between the entities is represented as an edge between the respective nodes, and annotating entities in the knowledge graph with objects of one or more data modalities. A neural network system is trained with the knowledge graph, wherein the neural network system treats the knowledge graph and the objects of a respective one of the data modalities in a unified manner by jointly learning embeddings of the nodes from the knowledge graph and embeddings of the objects of the respective one of the data modalities. The learned embeddings are used for identifying novel relationships among the entities.

There is provided an operation method for an information processing apparatus, the operation method being performed by a processor, the operation method including: an acquisition process for acquiring pieces of annotation information added to each of a plurality of biomarkers related to biological samples; a deriving process for deriving an evaluation value of each of the plurality of biomarkers on the basis of the pieces of annotation information; and a selection process for selecting on the basis of the evaluation value, measurement target biomarkers from among the plurality of biomarkers.

There is provided an operation method for an information processing apparatus, the operation method being performed by a processor, the operation method including: an acquisition process for acquiring pieces of annotation information added to each of a plurality of biomarkers related to biological samples; a deriving process for deriving an evaluation value of each of the plurality of biomarkers on the basis of the pieces of annotation information; and a selection process for selecting on the basis of the evaluation value, measurement target biomarkers from among the plurality of biomarkers.

A method for genome analysis is provided. The method includes receiving a nucleotide string comprising a plurality of nucleotides from at least a portion of one or more individual patients' genome. The method also includes identifying a plurality of variants in said nucleotide string, assigning each identified variant a score based on a location of a variant and a predicted functional consequence, and determining a strength of a variation responsible for a trait or phenotypic manifestation of the variants. The method also includes identifying at least one phenotype, and displaying, in a graphic unit interface of a client device, said nucleotide string, the identified variants, and the at least one phenotype, in one or more genetic elements for one or more individual patients. A system and a non-transitory, computer-readable medium storing instructions to perform the above method are also provided.

Material in a supply chain is tracked by a method of applying a DNA taggant set to a first batch of the material produced by a first supplier of the material. The DNA taggant set corresponds to a tag string corresponding to the first supplier. The first batch is aggregated with a second batch to create an aggregated lot. A sample is selected from the aggregated lot and tested to determine a DNA taggant set of the sample. After selecting a sample from the aggregated lot, the sample may be labeled with a grade and then placed in a receptacle corresponding to the grade.

Material in a supply chain is tracked by a method of applying a DNA taggant set to a first batch of the material produced by a first supplier of the material. The DNA taggant set corresponds to a tag string corresponding to the first supplier. The first batch is aggregated with a second batch to create an aggregated lot. A sample is selected from the aggregated lot and tested to determine a DNA taggant set of the sample. After selecting a sample from the aggregated lot, the sample may be labeled with a grade and then placed in a receptacle corresponding to the grade.

A method and system for annotation and classification of biomedical text having bacterial associations have been provided. The method is microbiome specific method for extraction of information from biomedical text which provides an improvement in accuracy of the reported bacterial associations. The present disclosure uses a unique set of domain features to accurately identify bacterial associations from the biomedical text. The disclosure further provides a method to use the set of domain features to improve a microbiome crowd sourcing setup and create a refined microbial association network. The refined bacterial association network can also be made corresponding to a disease or healthy state, which can be used for an improved understanding of the bacterial community structure and design therapeutic interventions. This refined bacterial association networks for a disease can then be used for clinical, therapeutic and diagnostic applications for treatment of the disease.