Commit Graph

44 Commits (b8709d8c674be5f83eac696a5a20f6528e2bec4d)

Author SHA1 Message Date
Mark DePristo e1bba91836 Ready for full-scale evaluation adaptive BQSR contexts
-- VisualizeContextTree now can write out an equivalent BQSR table determined after adaptive context merging of all RG x QUAL x CONTEXT trees
-- Docs, algorithm descriptions, etc so that it makes sense what's going on
-- VisualizeContextTree should really be simplified when into a single tool that just visualize the trees when / if we decide to make adaptive contexts standard part of BQSR
 -- Misc. cleaning, organization of the code (recalibation tests were in private but corresponding actual files were public)
2012-08-03 16:02:53 -04:00
Mark DePristo 0c4e729e13 Working version of adaptive context calculations
-- Uses chi2 test for independences to determine if subcontext is worth representing.   Give excellent visual results
-- Writes out analysis output file producing excellent results in R
-- Trivial reformatting of MathUtils
2012-07-31 08:11:04 -04:00
Mark DePristo 93640b382e Preliminary version of adaptive context covariate algorithm
-- Works according to visual inspection of output tree
2012-07-31 08:11:04 -04:00
Mark DePristo 315d25409f Improvement to RecalDatum and VisualizeContextTree
-- Reorganize functions in RecalDatum so that error rate can be computed indepentently.  Added unit tests.  Removed equals() method, which is a buggy without it's associated implementation for hashcode
-- New class RecalDatumTree based on QualIntervals that inherits from RecalDatum but includes the concept of sub data
-- VisualizeContextTree now uses RecalDatumTree and can trivially compute the penalty function for merging nodes, which it displays in the graph
2012-07-31 08:11:04 -04:00
Mark DePristo 57b45bfb1e Extensive unit tests, contacts, and documentation for RecalDatum 2012-07-31 08:11:03 -04:00
Mark DePristo e00ed8bc5e Cleanup BQSR classes
-- Moved most of BQSR classes (which are used throughout the codebase) to utils.recalibration.  It's better in my opinion to keep commonly used code in utils, and only specialized code in walkers.  As code becomes embedded throughout GATK its should be refactored to live in utils
-- Removed unncessary imports of BQSR in VQSR v3
-- Now ready to refactor QualQuantizer and unit test into a subclass of RecalDatum, refactor unit tests into RecalDatum unit tests, and generalize into hierarchical recal datum that can be used in QualQuantizer and the analysis of adaptive context covariate
-- Update PluginManager to sort the plugins and interfaces.  This allows us to have a deterministic order in which the plugin classes come back, which caused BQSR integration tests to temporarily change because I moved my classes around a bit.
2012-07-31 08:11:03 -04:00
Eric Banks 8dbc9cb29c Add the ability to emit the original quals in the OQ tag 2012-07-17 15:52:56 -04:00
Eric Banks 305db8c0d1 Total rewrite of the isGATKLite() functionality with help of Khalid/David. PluginManager was not working for us. 2012-07-17 15:11:03 -04:00
Eric Banks 62c5228048 1) Revert previous change - indel recalibration is turned on by default and users of the Lite version will need to turn it off to avoid a User Error. 2) Implemented the engine.isGATKLite() method. 2012-07-17 12:23:40 -04:00
Eric Banks 40618ac471 A bunch of BQSR changes: 1) by default we do not emit indel quals, but they can be turned on with --enable_indel_quals. 2) We check whether or not we are running in Lite mode (not done yet) and if so and the user is trying to recalibrate indels, we throw a User Error (not supported). 3) Like v1 we now allow the user to set the qual value below which we don't recalibrate (this was the remaining source of differences in the v1 vs. v2 plots). 2012-07-17 10:52:43 -04:00
Eric Banks dd571d9aa0 Added a --no_indel_quals argument that when used with -BQSR inhibits the writing of base insertion and base deletion quality tags. 2012-07-04 01:22:20 -04:00
Eric Banks a4670113bd Refactored/renamed the nested integer array; cleaned up code a bit. 2012-07-03 00:12:33 -04:00
Eric Banks cac72bce91 Initial version of int indexed mapping for BQSR. Will be cleaned up in a bit. 2012-07-02 14:33:33 -04:00
Eric Banks 96ea334bf2 Disable caching in BQSR for now since it significantly slows down computation; will look into this in a bit. 2012-06-28 15:27:44 -04:00
Eric Banks 1fafd9f6c8 NestedHashMap-based implementation of BQSRv2 along with a few minor optimizations. Not a huge runtime upgrade over the long bitset approach, but it allows us to implement further optimizations going forward. Integration test change because the original version had a bug in the quantized qual table creation. 2012-06-27 16:55:49 -04:00
Eric Banks 783b7f6899 Misc cleanup 2012-06-15 10:39:19 -04:00
Eric Banks 0c218e4822 Refactoring mostly for readability (and small performance improvement) 2012-06-15 10:36:41 -04:00
Eric Banks 4895fe2289 No more extraneous array creation in BQSR covariate classes; now covariates push their data directly to the ReadCovariates class as it's calculated (no more going through CovariateValues.java) 2012-06-15 02:32:00 -04:00
Eric Banks 5c3c6cbc40 Long -> long conversions in BQSR 2012-06-14 09:07:02 -04:00
Eric Banks 29a74908bb The next round of BQSR optimizations: no more Long[] array creation 2012-06-14 00:05:42 -04:00
Eric Banks 37f56ce8fd A couple of minor updates to BQSR 2012-06-12 16:12:13 -04:00
Eric Banks 0f79adb2aa Changing more Java Lists to native arrays in BQSR for performance optimization. 2012-06-12 15:41:01 -04:00
Eric Banks 1da3e43679 Wow, apparently it's way, way less efficient to iterate over Java Lists than native arrays. With this change and the bit fiddling, Ryan's 10-day test case now runs in 1 day. More to come. 2012-06-12 13:32:56 -04:00
Eric Banks 891ce51908 Refactoring of BQSRv2 to use longs (and standard bit fiddling techniques) instead of Java BitSets for performance improvements. 2012-06-12 09:19:36 -04:00
Eric Banks fea625632f Don't use asList because it maintains an iterator to the original list and then the result can't be used to create a new one 2012-06-11 15:45:58 -04:00
Eric Banks 0fb9179f76 BQSR optimization: don't clone the original quals for each read, we can just overwrite the original array 2012-06-07 19:41:03 -04:00
Eric Banks 03d40272c8 Removed old GATKReport code and moved the new stuff in its place. 2012-05-18 01:44:31 -04:00
Eric Banks a26b04ba17 Extensive refactoring of the GATKReports. This was a beast.
The practical differences between version 1.0 and this one (v1.1) are:

* the underlying data structure now uses arrays instead of hashes, which should drastically reduce the memory overhead required to create large tables.
* no more primary keys; you can still create arbitrary IDs to index into rows, but there is no special cased primary key column in the table.
* no more dangerous/ugly table operations supported except to increment a cell's value (if an int) or to concatenate 2 tables.

Integration tests change because table headers are different.
Old classes are still lying around.  Will clean those up in a subsequent commit.
2012-05-18 01:11:26 -04:00
Mauricio Carneiro 0f8c77391d BQSR bug triage #3
* fixed context covariate famous "off by one" error
   * reduced maximum quality score to Q50 (following Eric/Ryan's suggestion)
   * remove context downsampling in BQSR R script
2012-04-19 17:31:04 -04:00
Mauricio Carneiro eb22cd7222 Unit test to guarantee BQSR sequential calculation accuracy
This test brings together the old and the new BQSR, building a recalibration table using the two separate frameworks and performing the recalibration calculation using the two different frameworks for 10,000+ bases and asserting that the calculations match in every case.
2012-04-19 09:33:40 -04:00
Mauricio Carneiro f0c81b59b0 Implementation of the new BQSR plotting infrastructure
* removed low quality bases from the recalibration report.
   * refactored the Datum (Recal and Accuracy) class structure
   * created a new plotting csv table for optimized performance with the R script
   * added a datum object that carries the accuracy information (AccuracyDatum) for plotting
   * added mean reported quality score to all covariates
   * added QualityScore as a covariate for plotting purposes
   * added unit test to the key manager to operate with one required covariate and multiple optional covariates
   * integrated the plotting into BQSR (automatically generates the pdf with the recalibration tearsheet)
2012-04-17 19:23:55 -04:00
Mauricio Carneiro 87e6bea6c1 Adding engine capability to quantize qualities.
* Added parameter -qq to quantize qualities using a recalibration report
   * Added options to quantize using the recalibration report quantization levels, new nLevels and no quantization.
   * Updated BQSR scripts to make use of the new parameters
2012-04-08 21:07:51 -04:00
Mauricio Carneiro 1b75663178 BQSR Gatherer implementation and integration tests
* restructured the hash tables into one class (RecalibrationReport) that has all the functionality for the different tables and key managers
   * optmized empirical qual calculation when merging recalibration reports
   * centralized the quality score quantization functionalities
   * unified the creating/loading of all the key manager/hash table structures.
   * added unit tests for the gatherer (disabled because gatk report needs to be sorted for automated testing)
   * added integration tests for BQSR and on-the-fly recalibration
2012-03-27 13:50:22 -05:00
Mauricio Carneiro 0509d316d9 More information in the recalibration report
* added empirical quality counts to allow quantization during on-the-fly recalibration to any level
   * added number of observations and errors to all tables to enable plotting of all covariates
2012-03-23 16:15:19 -04:00
Mauricio Carneiro 9f74969e3a BQSR with GATKReport implementation
* restructured BQSR to report recalibrated tables.
   * implemented empirical quality calculation to the BQSR stage (instead of on-the-fly recalibration)
   * linked quality score quantization to the BQSR stage, outputting a quantization histogram
   * included the arguments used in BQSR to the GATK Report
   * included all three tables (RG, QUAL and COVARIATES) to the GATK Report with empirical qualities

On-the-fly recalibration with GATK Report

   * loads all tables from the GATKReport using existing infrastructure (with minor updates)
   * implemented initialiazation of the covariates using BQSR's argument list
   * reduced memory usage significantly by loading only the empirical quality and estimated quality reported for each bit set key
   * applied quality quantization to the base recalibration
   * excluded low quality bases from on-the-fly recalibration for mismatches, insertions or deletions
2012-03-23 15:42:32 -04:00
Mauricio Carneiro 3bfca0ccfd BitSet implementation of the on-the-fly recalibration using the CSV format file.
Infrastructure:
   * Added static interface to all different clipping algorithms of low quality tail clipping
   * Added reverse direction pileup element event lookup (indels) to the PileupElement and LocusIteratorByState
   * Complete refactor of the KeyManager. Much cleaner implementation that handles keys with no optional covariates (necessary for on-the-fly recalibration)
   * EventType is now an independent enum with added capabilities. All functionality is now centralized.

 BQSR and RecalibrateBases:
   * On-the-fly recalibration is now generic and uses the same bit set structure as BQSR for a reduced memory footprint
   * Refactored the object creation to take advantage of the compact key structure
   * Replaced nested hash maps with single hash maps indexed by bitsets
   * Eliminated low quality tails from the context covariate (using ReadClipper's write N's algorithm).
   * Excluded contexts with N's from the output file.
   * Fixed cycle covariate for discrete platforms (need to check flow cycle platforms now!)
   * Redfined error for indels to look at the previous base in negative strand reads (using new PE functionality)
   * Added the covariate ID (for optional covariates) to the output for disambiguation purposes
   * Refactored CovariateKeySet -- eventType functionality is now handled by the EventType enum.
   * Reduced memory usage of the BQSR script to 4

 Tests:
   * Refactored BQSRKeyManagerUnitTest to handle the new implementation of the key manager
   * Added tests for keys without optional covariates
   * Added tests for on-the-fly recalibration (but more tests are necessary)
2012-03-16 13:02:15 -04:00
Mauricio Carneiro ca11ab39e7 BitSets keys to lower BQSR's memory footprint
Infrastructure:
	* Generic BitSet implementation with any precision (up to long)
	* Two's complement implementation of the bit set handles negative numbers (cycle covariate)
	* Memoized implementation of the BitSet utils for better performance.
	* All exponents are now calculated with bit shifts, fixing numerical precision issues with the double Math.pow.
	* Replace log/sqrt with bitwise logic to get rid of numerical issues

 BQSR:
	* All covariates output BitSets and have the functionality to decode them back into Object values.
	* Covariates are responsible for determining the size of the key they will use (number of bits).
	* Generalized KeyManager implementation combines any arbitrary number of covariates into one bitset key with event type
	* No more NestedHashMaps. Single key system now fits in one hash to reduce hash table objects overhead

 Tests:
	* Unit tests added to every method of BitSetUtils
	* Unit tests added to the generalized key system infrastructure of BQSRv2 (KeyManager)
	* Unit tests added to the cycle and context covariates (will add unit tests to all covariates)
2012-03-16 13:01:48 -04:00
Ryan Poplin a8be96f63d This caching in the BQSR seems to be too slow now that there are so many keys 2012-02-18 10:54:39 -05:00
Ryan Poplin ae5b42c884 Put base insertion and base deletions in the SAMRecord as a string of quality scores instead of an array of bytes. Start of a proper genotype given alleles mode in HaplotypeCaller 2012-02-14 14:01:04 -05:00
Ryan Poplin 41ffd08d53 On the fly base quality score recalibration now happens up front in a SAMIterator on input instead of in a lazy-loading fashion if the BQSR table is provided as an engine argument. On the fly recalibration is now completely hooked up and live. 2012-02-13 12:35:09 -05:00
Ryan Poplin 9b8fd4c2ff Updating the half of the code that makes use of the recalibration information to work with the new refactoring of the bqsr. Reverting the covariate interface change in the original bqsr because the error model enum was moved to a different class and didn't make sense any more. 2012-02-11 10:57:20 -05:00
Mauricio Carneiro 5961868a7f fixup for BQSR (HC integration tests)
In the new BQSR implementation, covariates do depend on the RecalibrationArgumentCollection.
2012-02-06 22:47:27 -05:00
Ryan Poplin dc05b71e39 Updating Covariate interface with Mauricio to include an errorModel parameter. On the fly recalibration of base insertion and base deletion quals is live for the HaplotypeCaller 2012-02-06 11:10:24 -05:00
Ryan Poplin 5343f8ba67 Initial version of on-the-fly, lazy loading base quality score recalibration. It isn't completely hooked up yet but I'm committing so Mauricio and Mark can see how I envision it will fit together. Look it over and give any feedback. With the exception of the Solid specific code we are very very close to being able to remove TableRecalibrationWalker from the code base and just replace it with PrintReads -BQSR recal.csv 2012-02-05 13:09:03 -05:00