Once you have identified variant sites in your data and assigned genotypes for each sample at those sites, it can be useful to further refine the genotypes, e.g. by phasing, by imputation, and by identifying Mendelian violations. The GATK includes tools for phasing and identifying Mendelian violations, but does not include imputation tools. However, we do provide conversion tools to interface with BEAGLE, a popular imputation tool developed at Washington University.
I'm trying to phase GATK genotype and to impute some SNP calls. Before I could do that, I must convert GATK results to an acceptable BEAGLE input format. What's the difference between VariantsToBeagleUnphased and ProduceBeagleInput? I know the latter outputs a file with genotype likelihoods. Incidentally, using that file didn't work in BEAGLE and produced the following log and error files. Can anyone give any pointers? Thanks in advance!
[stechen@node24 ~]$ more beagle_run_410.o720239 Beagle version 3.3.2 (31 Oct 2011) Enter "java -jar beagle.jar" for summary of command line arguments. Start time: 11:59 AM EDT on 07 Aug 2013
Command line: java -Xmx7281m -jar beagle.jar like=beagle_input_410_impute phased=~/stechen/phase_ref/ALL.chr1.phase1_release_v3.20101123.filt.bgl markers=~stechen/phase_ref/ALL.chr1.phase1_release_v3.20101123.filt.markers missing=? out=beagle_output_410_chr1
[stechen@node24 ~]$ more beagle_run_410.e720239
bash: module: line 1: syntax error: unexpected end of file
bash: error importing function definition for `module'
Picked up _JAVA_OPTIONS: -Djava.io.tmpdir=~stechen/tmp -Xms256m -Xmx8G
Exception in thread "main" java.lang.NullPointerException
at phaser.y.a(Unknown Source)
Dear GATK team and community members,
I used ProduceBeagleInput to create a genotype likelihoods file, and ran beagle.jar according to the example in http://gatkforums.broadinstitute.org/discussion/43/interface-with-beagle-software. Beagle gave a warning that it is better to use a reference panel for imputing genotypes and phasing. So I downloaded the recommended reference panel (http://bochet.gcc.biostat.washington.edu/beagle/1000_Genomes.phase1_release_v3/), but Beagle requires that the alleles be in the same order on both reference and sample files. The tool to do this is check_strands.py (http://faculty.washington.edu/sguy/beagle/strand_switching/README), but it requires both sample and reference files be in .bgl format. This is a little disappointing since not being able to use the reference panel means Beagle's calculations won't be as accurate, although I'm not sure by how much.
I understand that this might be out of the scope of responsibility for the GATK team, but I will greatly appreciate if someone can provide suggestions to allow GATK's input to Beagle be phased using a reference panel. Or hopefully, the GATK team will write a tool to produce .bgl files?
I used Beagle to phase my data but for some indels, I have some probleme :
Input vcf :
2 68599872 . ATG A 14.40 PASS AC=1;AC1=1;AF=0.028
Input for beagle created by ProduceBeagleInput:
2:68599872 TG - 1.0000 0.0000 0.0000 ......
Output vcf created by BeagleOutputToVCF:
2 68599872 . ATG . 14.40 BGL_RM_WAS_- AC1=1;AF1=0.02965.....
error message by CombineVariants:
MESSAGE: Badly formed variant context at location 68599872 in contig 2. Reference length must be at most one base shorter than location size
Can you help me?