The hap-ibd program detects identity-by-descent (IBD) segments and homozygosity-by-descent (HBD) segments in phased genotype data. The hap-ibd program can analyze data sets with hundreds of thousands of samples.
If you use hap-ibd in a published analysis, please report the program version printed in the first line of the output log file and please cite the article that describes the hap-ibd method:
Y Zhou, S R Browning, B L Browning. A fast and simple method for detecting identity by descent segments in large-scale data. The American Journal of Human Genetics 106(4):426-437. doi: https://doi.org/10.1016/j.ajhg.2020.02.010
Last updated May 20, 2022
You can download the latest executable file, hap-ibd.jar, with the command:
wget https://faculty.washington.edu/browning/hap-ibd.jar
or you can download the source files and create the executable file with the commands:
git clone https://github.com/browning-lab/hap-ibd.git
javac -cp hap-ibd/src/ hap-ibd/src/hapibd/HapIbdMain.java
jar cfe hap-ibd.jar hapibd/HapIbdMain -C hap-ibd/src/ ./
jar -i hap-ibd.jar
The hap-ibd program requires Java version 1.8 (or a later version). Use of an earlier Java version will produce an "Unsupported Class Version" error.
The command:
java -jar hap-ibd.jar
prints a summary of the command line arguments.
To run hap-ibd, enter the following command:
java -Xmx[GB]g -jar hap-ibd.jar [arguments]
where [GB] is the maximum number of gigabytes of memory to use, and [arguments] is a space-separated list of parameter values, each expressed as parameter=value.
The shell script run.hap-ibd.test will run a test hap-ibd analysis.
The hap-ibd program has three required parameters.
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gt=[file] where [file] is a Variant Call Format (VCF) file. All VCF records must include a GT FORMAT subfield, all genotypes must be phased, and there can be no missing alleles. If your data is unphased, you can phase your data using the Beagle program. A VCF record may have multiple ALT alleles. A VCF file with a name ending in ".gz" is assumed to be gzip-compressed.
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map=[file] where [file] is a PLINK format genetic map with cM units. The hap-ibd program will use linear interpolation to estimate genetic positions between map positions. Chromosome identifiers in the genetic map and input VCF file must match. HapMap genetic maps in cM units are available for GRCh36, GRCh37, and GRCh38.
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out=[string] where [string] is the output filename prefix.
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min-seed=[number > 0.0] specifies the minimum cM length of a seed identity-by-state (IBS) segment that is eligible to be extended (default: min-seed=2.0). See the max-gap and min-extend parameters for more information.
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max-gap=[integer ≥ -1] specifies the maximum base-pair gap between a seed segment and another IBS segment in order for the the seed segment to be extended (default: max-gap=1000). The base-pair gap is the absolute value of the difference between the VCF POS field of the first and last marker in the non-IBS region between the two segments. The max-gap parameter allows output IBD segments to include very short non-IBS regions that can result from genotype error, mutation, and gene conversion. If max-gap=-1 no seed IBS segments will be extended. See the min-seed and min-extend parameters for more information.
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min-extend=[number ≤ min-seed] specifies the minimum cM length of an IBS segment that can extend a seed segment. The default value is the minimum of 1.0 and the min-seed parameter. See the min-seed and max-gap parameters for more details.
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min-output=[number > 0.0] specifies the minimum cM length of output IBD/HBD segments. (default: min-output=2.0). Each output HBD/IBD segment is composed of a seed IBS segment and any neighboring extension IBS segments. See the min-seed, max-gap, and min-extend parameters for more details.
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min-markers=[number ≥ 1] specifies the minimum number of markers in each seed and extension IBS segment (default: min-markers=100). An IBS seed segment is required to contain at least min-markers markers. An IBS extension segment is required to contain at least ((min-extend/min_seed) × min-markers) markers. Increasing the min-markers parameter can reduce inflation in the number of output IBD segments in regions with sparse marker coverage. See the min-seed and min-extend parameters for more information.
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min-mac=[integer ≥ 1] specifies the minimum number of copies of the minor allele. If a marker has fewer than the minimum number of minor allele carriers, the marker will be excluded from the analysis (default: min-mac=2). For multi-allelic markers, the minor allele count is the number of copies of the allele with the second-largest allele frequency.
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nthreads=[integer ≥ 1] specifies the number of computational threads to use. The default nthreads parameter is the number of CPU cores.
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excludesamples=[file] where [file] is a text file containing samples (one sample per line) to be excluded from the analysis.
The hap-ibd program produces three output files: a log file, an ibd file, and an hbd file.
The log file (.log) contains a summary of the analysis, which includes the analysis parameters, the number of markers, the number of samples, the number of output HBD and IBD segments, and the mean number of HBD and IBD segments per sample.
The gzip-compressed ibd file (.ibd.gz) contains IBD segments shared between individuals. The gzip-compressed hbd file (.hbd.gz) contains HBD segments within within individuals. Each line of the ibd and hbd output files represents one IBD or HBD segment and contains 8 tab-delimited fields:
- First sample identifier
- First sample haplotype index (1 or 2)
- Second sample identifier
- Second sample haplotype index (1 or 2)
- Chromosome
- Base coordinate of first marker in segment
- Base coordinate of last marker in segment
- cM length of IBD segment
The hap-ibd program is licensed under the Apache License, Version 2.0 (the License). You may obtain a copy of the License from http://www.apache.org/licenses/LICENSE-2.0