Systems and Methods for Annotating Biomolecule Data

Abstract

Systems, methods, software and computer-usable media for annotating biomolecule-related data are disclosed. In certain exemplified embodiments, the biomolecules can be nucleic acids and the data can be sequence-related data. In various embodiments, systems can include one or more public or private biological attributes (e.g., annotation information databases, data storage devices and systems, etc.) sources, one or more genomic features data sources (e.g., genomic variant tools, genomic variant databases, genomic variant data storage devices and systems, etc.), a computing device (e.g., workstation, server, personal computer, mobile device, etc.) hosting an annotations module and/or a reporting module, and a client terminal.

1 . A system for annotating genomic features, comprising:
 a client device;   a first data source configured to store genomic features data associated with one or more genomic sequence positions;   a second data source configured to store biological attributes data;   an annotations module communicatively connected with the client device, the first data source and the second data source, comprising:
 an annotation component configured to:
 receive genomic features data from the first data source, 
 search the second data source to identify relevant biological attributes associated with the genomic features data, and 
 annotate the genomic features data with the identified biological attributes, and 
 
 an analytics component configured to parse the annotated genomic features data to ascertain statistical trends within the annotated genomic features data; and 
   a reporting module communicatively connected to the client device and the annotations module, the reporting module configured to generate a report summarizing the annotated genomic features data and the ascertained statistical trends.   
     
     
         2 . The system, as recited in  claim 1 , wherein the annotations module further includes a filtering component configured to filter the annotated genomic features based on one or more conditions. 
     
     
         3 . The system, as recited in  claim 2 , wherein the condition relates to whether the genomic feature overlaps an exon, whether the genomic feature overlaps a gene, whether the genomic feature is found on a designated data source, or any combination thereof. 
     
     
         4 . The system, as recited in  claim 3 , wherein the designated data source is a dbSNP database. 
     
     
         5 . The system, as recited in  claim 1 , wherein relevance is based on whether the genomic feature is a marker for the biological attribute, an effect that the genomic feature has on the biological attribute, interrelationships between different genomic features, the biological attribute providing a characterization of the genomic feature, a correlation between the genomic feature and its position on a particular locus/chromosome, or any combination thereof. 
     
     
         6 . The system, as recited in  claim 5 , wherein the biological attribute is a disease state, a therapeutic outcome, a biological function, or any combination thereof. 
     
     
         7 . The system, as recited in  claim 6 , wherein the biological function is a metabolic pathway, a biological signaling pathway, a biological regulation pathway, or any combination thereof. 
     
     
         8 . The system, as recited in  claim 5 , wherein the effect is an initiating response, a blocking response, a stimulatory response, an inhibitory response, or any combination thereof. 
     
     
         9 . The system, as recited in  claim 1 , wherein the genomic feature is a genetic mutation. 
     
     
         10 . An annotations module for annotating genomic features, comprising:
 an annotation component configured to:
 receive genomic features data from a first data source, 
 search a second data source to identify relevant biological attributes associated with the genomic features data, and 
 annotate the genomic features data with the identified biological attributes; and 
   an analytics component configured to parse the annotated genomic features data to ascertain statistical trends within the annotated genomic features data.   
     
     
         11 . (canceled) 
     
     
         12 . (canceled) 
     
     
         13 . A computer implemented method for annotating genomic features, comprising:
 receiving genomic features data associated with one or more genomic sequence positions;   searching one or more data sources to identify biological attributes associated with each of the genomic features based on a set of criteria; and   annotating the genomic features data with the identified biological attributes.   
     
     
         14 . The computer implemented method for annotating genomic features, as recited in  claim 13 , further including:
 analyzing the annotated genomic features data to ascertain statistical trends within the annotated genomic features data; and   generating a report summarizing the annotated genomic features data and the ascertained statistical trends.   
     
     
         15 . The computer implemented method for annotating genomic features, as recited in  claim 13 , wherein relevance is based on whether the genomic feature is a marker for the biological attribute, an effect that the genomic feature has on the biological attribute, interrelationships between different genomic features, the biological attribute providing a characterization of the genomic feature, a correlation between the genomic feature and its position on a particular locus/chromosome, or any combination thereof. 
     
     
         16 . The computer implemented method for annotating genomic features, as recited in  claim 15 , wherein the biological attribute is a disease state, a therapeutic outcome, a biological function, or any combination thereof. 
     
     
         17 . The computer implemented method for annotating genomic features, as recited in  claim 16 , wherein the biological function is a metabolic pathway, a biological signaling pathway, a biological regulation pathway, or any combination thereof. 
     
     
         18 . The computer implemented method for annotating genomic features, as recited in  claim 15 , wherein the effect is an initiating response, a blocking response, a stimulatory response, an inhibitory response, or any combination thereof. 
     
     
         19 . The computer implemented method for annotating genomic features, as recited in  claim 13 , wherein the genomic feature is a genetic mutation. 
     
     
         20 . The computer implemented method for annotating genomic features, as recited in  claim 13 , further including:
 filtering the annotated genomic features based on one or more conditions.   
     
     
         21 . The computer implemented method for annotating genomic features, as recited in  claim 20 , wherein the condition relates to whether the genomic feature overlaps an exon, whether the genomic feature overlaps a gene, whether the genomic feature is found on a designated data source, or any combination thereof. 
     
     
         22 . The computer implemented method for annotating genomic features, as recited in  claim 21 , wherein the designated data source is a dbSNP database. 
     
     
         23 . (canceled) 
     
     
         24 . (canceled)