Systems and methods for smart tools in sequence pipelines

• US 9,558,321 B2
• Filed: 10/07/2015
• Issued: 01/31/2017
• Est. Priority Date: 10/14/2014
• Status: Active Grant

• Current Assignee: Seven Bridges Genomics, Inc.
• Original Assignee: Seven Bridges Genomics, Inc.
• Inventors: Tijanic, Nebojsa, Stojanovic, Luka, Cohadarevic, Damir, Ivkovic, Sinisa
• Primary Examiner(s): Zhen, Wei
• Assistant Examiner(s): DUNCAN, TIMOTHY P
• Application Number:
  US14/877,378
• Publication Number:
  US 20160103659A1
• Time in Patent Office: 482 Days
• Field of Search: None
• US Class Current: 1/1
• CPC Class Codes: G06F 8/34 Graphical or visual programming
• CPC Class Codes: G06F 9/4881 Scheduling strategies for dispatcher, e.g. round robin, multi-level priority queues
• CPC Class Codes: G06F 9/5005 to service a request
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 20/20 Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• CPC Class Codes: G16B 50/00 ICT programming tools or database systems specially adapted for bioinformatics

Abstract

A tool in a bioinformatics pipeline can include a smart wrapper and an executable. The smart wrapper can cause the executable to analyze the sequence data it receives and can also selectively change to the pipeline when circumstances warrant. In certain aspects, a system for genomic analysis includes a processor coupled to a non-transitory memory. The system is operable to present to a user a plurality of genomic tools organized into a pipeline. At least a first one of the tools comprises an executable and a wrapper script. The system can receive instructions from the user and sequence data—instructions that call for the sequence data to be analyzed by the pipeline—and select, using the wrapper script, a change to the pipeline.

Claims

1. A system for genomic analysis, the system comprising:

a processor coupled to a memory operable to cause the system to;

present to a user a plurality of genomic tools organized into a bioinformatics pipeline, wherein at least a first one of the genomic tools comprises an executable and a wrapper script;

receive instructions from the user and sequence data, wherein the instructions call for the sequence data to be analyzed by the bioinformatics pipeline;

initiate the executable of the first genomic tool of the bioinformatics pipeline; and

modify, using the wrapper script, the bioinformatics pipeline to replace the first genomic tool of the bioinformatics pipeline with an alternative genomic tool, wherein the wrapper script modifies the bioinformatics pipeline by;

receiving an error from the executable of the first genomic tool;

identifying the alternative genomic tool that is consistent with the user instructions and the data being passed; and

initiating an executable of the alternative genomic tool, wherein the alternative genomic tool avoids the error.

2. The system of claim 1, wherein the wrapper script selects modifies the bioinformatics pipeline in response to the received error.

3. The system of claim 1, wherein the wrapper script recommends the modification to the user and allows the user to accept the recommendation.

4. The system of claim 1, wherein the executable comprises a sequence alignment program and the modification to the bioinformatics pipeline includes an alternative sequence alignment program.

5. The system of claim 1, wherein the selected modification includes a request for additional resources and the wrapper script makes the request.

6. The system of claim 5, wherein the request for additional resources comprises one selected from the list consisting of:

retrieving a data file not provided by the user and not included in the sequence data;

retrieving data from a URL;

retrieving a matrix of probabilities;

calling for a first tool in the bioinformatics pipeline to generate ancillary data from the sequence data to be used by a subsequent tool in the bioinformatics pipeline when the subsequent tool analyzes the sequence data;

requesting additional computing power;

requesting additional computer processors;

requesting one or more virtual machines; and

requesting additional storage space.

7. The system of claim 1, wherein the instructions include at least one flag that establishes a value for a parameter, and the wrapper script selects the modification by changing the flag to establish a different value for the parameter.

8. The system of claim 1, wherein the wrapper script selects a modification that comprises not analyzing the sequence data with the executable.

9. The system of claim 1, wherein the wrapper script detects an inconsistency between the instructions and the executable.

10. The system of claim 1, wherein the wrapper script detects an inconsistency between the instructions and the sequence data.

11. The system of claim 1, wherein the wrapper script detects an inconsistency between the sequence data and the executable.

12. The system of claim 1, wherein modifying the bioinformatics pipeline comprises recommending that the user use the alternative genomic tool instead of the first genomic tool.

13. The system of claim 1, wherein the wrapper script adds a flag to the instructions that sends a parameter to the executable, wherein the parameter controls how the executable analyzes the sequence data.

14. The system of claim 1, wherein the wrapper script causes the system to prompt the user for additional data.

15. The system of claim 1, wherein the wrapper script causes the system to prompt the user to accept the selected change.

16. The system of claim 1, wherein the wrapper script causes the system to inform the user of the selected change.

17. The system of claim 1, wherein the wrapper script analyzes the sequence data and selects the change based on a feature of the sequence data.

18. The system of claim 4, wherein the wrapper script includes a series of statements that assign input data to specific sequence alignment programs based on qualities of the input data.

19. The method of claim 18, wherein the qualities are at least one of the following:

file size, extension, file format, number of input files, and metadata.

20. A system for genomic analysis, the system comprising:

a processor coupled to a memory operable to cause the system to;

present to a user one or more bioinformatics pipelines for genomic analysis, the bioinformatics pipelines comprising a plurality of genomic tools each comprising an executable and a wrapper script;

receive instructions from the user to process sequence data using a selected bioinformatics pipeline of genomic tools;

initiate the executable of a first genomic tool of the selected bioinformatics pipeline; and

modify, using the wrapper script, the bioinformatics pipeline to replace the first genomic tool of the bioinformatics pipeline with an alternative genomic tool, wherein the wrapper script modifies the bioinformatics pipeline by;

receiving an error from the executable of the first genomic tool;

identifying the alternative genomic tool that is consistent with the user instructions and the data being passed; and

running an executable of the alternative genomic tool, wherein the alternative tool avoids the error.