Embodiments of a method and system for characterizing a skin-related condition in relation to a user can include one or more of: a handling network operable to collect containers comprising material from a set of users, the handling network comprising a sequencing system operable to determine microorganism sequences from sequencing the material; a microbiome characterization system operable to: determine at least one of microbiome composition data and microbiome functional diversity data based on the microorganism sequences, collect supplementary data associated with the skin-related condition for the set of users, and transform the supplementary data and the at least one of the microbiome composition data and the microbiome functional diversity data into a characterization model; and a therapy system operable to promote a treatment to the user for the skin-related condition based on characterizing the user with the characterization model in relation to the skin-related condition.

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.

Methods and systems for ordering assays which detect SNPs or gene expression are provided. The methods use PCR and RT-PCR procedures. Collections of stock assays are assembled using pre- and post-manufacturing quality control procedures and made available to consumers via the Internet. In addition, custom assays are prepared upon order from the consumer and these assays are also prepared using pre- and post-manufacturing quality control procedures. The assays are then delivered to the consumer.

A method and system is provided for visualization and pictorial presentation to a user of possible interactions between a prospective drug that is being considered for prescribing to a person and that person's genotype. Genetic information of the person that can affect the manner in which a drug acts on a molecular, physiological or biological function of the body or a tissue, or a manner in which a drug is being metabolized, absorbed, excreted or otherwise eliminated from the body or a tissue by the body or tissue systems, is entered into a computerized device. The computerized device conducts a search of a drug database for drugs that have known interactions with the entered genetic information, and assigns a numeric value to each of a plurality of drugs, either in aggregate, as a class, or individually, in order to quantify the nature, strength and direction of each interaction. The computer sends the assigned numeric values to the computer's output module for their visual presentation to a user as a graph including a panel of columns, or other geometrical structures, whose geometrical characteristics correspond to the assigned numeric values of each drug, in order to facilitate the prospective drug selection by a prescriber on the basis of the totality of drug-gene and/or drug-drug interactions presented to the user as a visual graph.

Disclosed are systems, media, and methods for providing a genomic search engine application comprising: a plurality of indices, recorded in the computer storage, the indices comprising tokenized genomic data; a software module providing an indexing pipeline, the indexing pipeline ingesting genomic data and annotation associated with the genomic data, tokenizing the data while preserving gene names and gene variant names, and updating the indices with the tokenized data; and a software module presenting a user interface allowing a user to enter a user query; a software module providing a query engine, the query engine accepting the user query, selecting one or more relevant indices, and applying a ranking formula to the selected indices to return ranked results.

A method for at least one of characterizing, diagnosing, and treating an endocrine system condition in at least a subject, the method comprising: receiving an aggregate set of biological samples from a population of subjects; generating at least one of a microbiome composition dataset and a microbiome functional diversity dataset for the population of subjects; generating a characterization of the endocrine system condition based upon features extracted from at least one of the microbiome composition dataset and the microbiome functional diversity dataset; based upon the characterization, generating a therapy model configured to correct the endocrine system condition; and at an output device associated with the subject, promoting a therapy to the subject based upon the characterization and the therapy model.

A computer-based genomic annotation system, including a database configured to store genomic data, non-transitory memory configured to store instructions, and at least one processor coupled with the memory, the processor configured to implement the instructions in order to implement an annotation pipeline and at least one module filtering or analysis of the genomic data.

The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

Methods and compositions are provided for determining TMB in a tumor sample using transcriptome profiling data. Also provided herein are methods and compositions for determining the response of an individual with a specific TMB to a therapy such as immunotherapy.