Generate recalibration table for Base Quality Score Recalibration (BQSR) on Spark
Category Read Data Manipulation
OverviewSpark version of the first pass of the base quality score recalibration. Generates a recalibration table based on various covariates. The default covariates are read group, reported quality score, machine cycle, and nucleotide context.
This walker generates tables based on specified covariates. It does a by-locus traversal operating only at sites that are not in the known-sites resource. ExAc, gnomAD, or dbSNP resources can be used as known sites of variation. We assume that all reference mismatches we see are therefore errors and indicative of poor base quality. Since there is a large amount of data one can then calculate an empirical probability of error given the particular covariates seen at this site, where p(error) = num mismatches / num observations. The output file is a table (of the several covariate values, num observations, num mismatches, empirical quality score).
- The input read data whose base quality scores need to be assessed.
- A database of known polymorphic sites to skip over.
A GATK Report file with many tables:
- The list of arguments
- The quantized qualities table
- The recalibration table by read group
- The recalibration table by quality score
- The recalibration table for all the optional covariates
gatk BaseRecalibratorSpark \ -I gs://my-gcs-bucket/my_reads.bam \ -R gs://my-gcs-bucket/reference.fasta \ --known-sites gs://my-gcs-bucket/sites_of_variation.vcf \ --known-sites gs://my-gcs-bucket/another/optional/setOfSitesToMask.vcf \ -O gs://my-gcs-bucket/recal_data.table \ -- \ --sparkRunner GCS \ --cluster my-dataproc-cluster
BaseRecalibratorSpark specific arguments
This table summarizes the command-line arguments that are specific to this tool. For more details on each argument, see the list further down below the table or click on an argument name to jump directly to that entry in the list.
|Argument name(s)||Default value||Summary|
|||BAM/SAM/CRAM file containing reads|
||||the known variants|
|null||Path to save the final recalibration tables to.|
|null||Reference sequence file|
|Optional Tool Arguments|
||||read one or more arguments files and add them to the command line|
||0||maximum number of bytes to read from a file into each partition of reads. Setting this higher will result in fewer partitions. Note that this will not be equal to the size of the partition in memory. Defaults to 0, which uses the default split size (determined by the Hadoop input format, typically the size of one HDFS block).|
||null||the binary tag covariate name if using it|
||40.0||BQSR BAQ gap open penalty (Phred Scaled). Default value is 40. 30 is perhaps better for whole genome call sets|
||||spark properties to set on the spark context in the format
||-1||Assign a default base quality|
||45||default quality for the base deletions covariate|
||false||If specified, do not check the sequence dictionaries from our inputs for compatibility. Use at your own risk!|
|20||If the GCS bucket channel errors out, how many times it will attempt to re-initiate the connection|
|false||display the help message|
|3||Size of the k-mer context to be used for base insertions and deletions|
||45||default quality for the base insertions covariate|
|ALL||Interval merging rule for abutting intervals|
|||One or more genomic intervals over which to operate|
||BROADCAST||the join strategy for reference bases and known variants|
||2||minimum quality for the bases in the tail of the reads to be considered|
|500||The maximum cycle value permitted for the Cycle covariate|
|2||Size of the k-mer context to be used for base mismatches|
||-1||default quality for the base mismatches covariate|
||0||For tools that shuffle data or write an output, sets the number of reducers. Defaults to 0, which gives one partition per 10MB of input.|
||6||Don't recalibrate bases with quality scores less than this threshold (with -bqsr)|
||null||Name of the program running|
||16||number of distinct quality scores in the quantized output|
||1000||Each read shard has this many bases of extra context on each side. Only applies when using the OVERLAPS_PARTITIONER join strategy.|
||10000||Maximum size of each read shard, in bases. Only applies when using the OVERLAPS_PARTITIONER join strategy.|
||false||For tools that write an output, write the output in multiple pieces (shards)|
||local[*]||URL of the Spark Master to submit jobs to when using the Spark pipeline runner.|
|false||Use the base quality scores from the OQ tag|
||false||display the version number for this tool|
|Optional Common Arguments|
|||Read filters to be disabled before analysis|
||false||Disable all tool default read filters|
|||One or more genomic intervals to exclude from processing|
||null||A configuration file to use with the GATK.|
|0||Amount of padding (in bp) to add to each interval you are excluding.|
|0||Amount of padding (in bp) to add to each interval you are including.|
|UNION||Set merging approach to use for combining interval inputs|
||false||Whether to suppress job-summary info on System.err.|
|||Read filters to be applied before analysis|
||||Indices to use for the read inputs. If specified, an index must be provided for every read input and in the same order as the read inputs. If this argument is not specified, the path to the index for each input will be inferred automatically.|
|SILENT||Validation stringency for all SAM/BAM/CRAM/SRA files read by this program. The default stringency value SILENT can improve performance when processing a BAM file in which variable-length data (read, qualities, tags) do not otherwise need to be decoded.|
|false||Whether to use the JdkDeflater (as opposed to IntelDeflater)|
|false||Whether to use the JdkInflater (as opposed to IntelInflater)|
||INFO||Control verbosity of logging.|
||false||display hidden arguments|
Arguments in this list are specific to this tool. Keep in mind that other arguments are available that are shared with other tools (e.g. command-line GATK arguments); see Inherited arguments above.
--arguments_file / NA
read one or more arguments files and add them to the command line
--bam-partition-size / NA
long 0 [ [ -∞ ∞ ] ]
--binary-tag-name / NA
the binary tag covariate name if using it
The tag name for the binary tag covariate (if using it)
BQSR BAQ gap open penalty (Phred Scaled). Default value is 40. 30 is perhaps better for whole genome call sets
double 40.0 [ [ -∞ ∞ ] ]
--conf / -conf
spark properties to set on the spark context in the format
Assign a default base quality
If reads are missing some or all base quality scores, this value will be used for all base quality scores. By default this is set to -1 to disable default base quality assignment.
byte -1 [ [ -∞ ∞ ] ]
default quality for the base deletions covariate
A default base qualities to use as a prior (reported quality) in the mismatch covariate model. This value will replace all base qualities in the read for this default value. Negative value turns it off. [default is on]
byte 45 [ [ -∞ ∞ ] ]
--disable-read-filter / -DF
Read filters to be disabled before analysis
--disable-sequence-dictionary-validation / -disable-sequence-dictionary-validation
--disable-tool-default-read-filters / -disable-tool-default-read-filters
Disable all tool default read filters
--exclude-intervals / -XL
One or more genomic intervals to exclude from processing
Use this argument to exclude certain parts of the genome from the analysis (like -L, but the opposite). This argument can be specified multiple times. You can use samtools-style intervals either explicitly on the command line (e.g. -XL 1 or -XL 1:100-200) or by loading in a file containing a list of intervals (e.g. -XL myFile.intervals).
--gatk-config-file / NA
A configuration file to use with the GATK.
--gcs-max-retries / -gcs-retries
If the GCS bucket channel errors out, how many times it will attempt to re-initiate the connection
int 20 [ [ -∞ ∞ ] ]
--help / -h
display the help message
--indels-context-size / -ics
Size of the k-mer context to be used for base insertions and deletions
The context covariate will use a context of this size to calculate its covariate value for base insertions and deletions. Must be between 1 and 13 (inclusive). Note that higher values will increase runtime and required java heap size.
int 3 [ [ -∞ ∞ ] ]
--input / -I
BAM/SAM/CRAM file containing reads
R List[String] 
default quality for the base insertions covariate
A default base qualities to use as a prior (reported quality) in the insertion covariate model. This parameter is used for all reads without insertion quality scores for each base. [default is on]
byte 45 [ [ -∞ ∞ ] ]
--interval-exclusion-padding / -ixp
Amount of padding (in bp) to add to each interval you are excluding.
Use this to add padding to the intervals specified using -XL. For example, '-XL 1:100' with a padding value of 20 would turn into '-XL 1:80-120'. This is typically used to add padding around targets when analyzing exomes.
int 0 [ [ -∞ ∞ ] ]
--interval-merging-rule / -imr
Interval merging rule for abutting intervals
By default, the program merges abutting intervals (i.e. intervals that are directly side-by-side but do not actually overlap) into a single continuous interval. However you can change this behavior if you want them to be treated as separate intervals instead.
The --interval-merging-rule argument is an enumerated type (IntervalMergingRule), which can have one of the following values:
--interval-padding / -ip
Amount of padding (in bp) to add to each interval you are including.
Use this to add padding to the intervals specified using -L. For example, '-L 1:100' with a padding value of 20 would turn into '-L 1:80-120'. This is typically used to add padding around targets when analyzing exomes.
int 0 [ [ -∞ ∞ ] ]
--interval-set-rule / -isr
Set merging approach to use for combining interval inputs
By default, the program will take the UNION of all intervals specified using -L and/or -XL. However, you can change this setting for -L, for example if you want to take the INTERSECTION of the sets instead. E.g. to perform the analysis only on chromosome 1 exomes, you could specify -L exomes.intervals -L 1 --interval-set-rule INTERSECTION. However, it is not possible to modify the merging approach for intervals passed using -XL (they will always be merged using UNION). Note that if you specify both -L and -XL, the -XL interval set will be subtracted from the -L interval set.
The --interval-set-rule argument is an enumerated type (IntervalSetRule), which can have one of the following values:
- Take the union of all intervals
- Take the intersection of intervals (the subset that overlaps all intervals specified)
--intervals / -L
One or more genomic intervals over which to operate
--join-strategy / NA
the join strategy for reference bases and known variants
The --join-strategy argument is an enumerated type (JoinStrategy), which can have one of the following values:
- Use a broadcast join strategy, where one side of the join is collected into memory and broadcast to all workers.
- Use an overlaps partitioner strategy, where one side of the join is sharded in partitions and the other side is broadcast.
- Use a shuffle join strategy, where both sides of join are shuffled across the workers.
--known-sites / NA
the known variants
R List[String] 
--low-quality-tail / NA
minimum quality for the bases in the tail of the reads to be considered
Reads with low quality bases on either tail (beginning or end) will not be considered in the context. This parameter defines the quality below which (inclusive) a tail is considered low quality
byte 2 [ [ -∞ ∞ ] ]
--maximum-cycle-value / -max-cycle
The maximum cycle value permitted for the Cycle covariate
The cycle covariate will generate an error if it encounters a cycle greater than this value. This argument is ignored if the Cycle covariate is not used.
int 500 [ [ -∞ ∞ ] ]
--mismatches-context-size / -mcs
Size of the k-mer context to be used for base mismatches
The context covariate will use a context of this size to calculate its covariate value for base mismatches. Must be between 1 and 13 (inclusive). Note that higher values will increase runtime and required java heap size.
int 2 [ [ -∞ ∞ ] ]
default quality for the base mismatches covariate
A default base qualities to use as a prior (reported quality) in the mismatch covariate model. This value will replace all base qualities in the read for this default value. Negative value turns it off. [default is off]
byte -1 [ [ -∞ ∞ ] ]
--num-reducers / NA
int 0 [ [ -∞ ∞ ] ]
--output / -O
Path to save the final recalibration tables to.
R String null
Don't recalibrate bases with quality scores less than this threshold (with -bqsr)
This flag tells GATK not to modify quality scores less than this value. Instead they will be written out unmodified in the recalibrated BAM file. In general it's unsafe to change qualities scores below < 6, since base callers use these values to indicate random or bad bases. For example, Illumina writes Q2 bases when the machine has really gone wrong. This would be fine in and of itself, but when you select a subset of these reads based on their ability to align to the reference and their dinucleotide effect, your Q2 bin can be elevated to Q8 or Q10, leading to issues downstream.
int 6 [ [ -∞ ∞ ] ]
--program-name / NA
Name of the program running
--quantizing-levels / NA
number of distinct quality scores in the quantized output
BQSR generates a quantization table for quick quantization later by subsequent tools. BQSR does not quantize the base qualities, this is done by the engine with the -qq or -bqsr options. This parameter tells BQSR the number of levels of quantization to use to build the quantization table.
int 16 [ [ -∞ ∞ ] ]
--QUIET / NA
Whether to suppress job-summary info on System.err.
--read-filter / -RF
Read filters to be applied before analysis
--read-index / -read-index
--read-shard-padding / NA
Each read shard has this many bases of extra context on each side. Only applies when using the OVERLAPS_PARTITIONER join strategy.
int 1000 [ [ -∞ ∞ ] ]
--read-shard-size / NA
Maximum size of each read shard, in bases. Only applies when using the OVERLAPS_PARTITIONER join strategy.
int 10000 [ [ -∞ ∞ ] ]
The --read-validation-stringency argument is an enumerated type (ValidationStringency), which can have one of the following values:
--reference / -R
Reference sequence file
R String null
--sharded-output / NA
For tools that write an output, write the output in multiple pieces (shards)
--showHidden / -showHidden
display hidden arguments
--spark-master / NA
URL of the Spark Master to submit jobs to when using the Spark pipeline runner.
--TMP_DIR / NA
--use-jdk-deflater / -jdk-deflater
Whether to use the JdkDeflater (as opposed to IntelDeflater)
--use-jdk-inflater / -jdk-inflater
Whether to use the JdkInflater (as opposed to IntelInflater)
--use-original-qualities / -OQ
Use the base quality scores from the OQ tag
This flag tells GATK to use the original base qualities (that were in the data before BQSR/recalibration) which are stored in the OQ tag, if they are present, rather than use the post-recalibration quality scores. If no OQ tag is present for a read, the standard qual score will be used.
--verbosity / -verbosity
Control verbosity of logging.
The --verbosity argument is an enumerated type (LogLevel), which can have one of the following values:
--version / NA
display the version number for this tool
GATK version 220.127.116.11 built at 02-13-2019 02:13:49.