bio-eagle1
Haplotype phasing within a genotyped cohort or using a phased reference panel
Usage
eagle [options]
Overview
Eagle estimates haplotype phase either within a genotyped cohort or using a phased reference panel. The basic idea of the Eagle1 algorithm is to harness identity-by-descent among distant relatives—which is pervasive at very large sample sizes but rare among smaller numbers of samples—to rapidly call phase using a fast scoring approach. In contrast, the Eagle2 algorithm analyzes a full probabilistic model similar to the diploid Li-Stephens model used by previous HMM-based methods.
Options
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-h, --help -
Print this help
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--geneticMapFile arg -
HapMap genetic map provided with download: tables/genetic_map_hg##.txt.gz
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--outPrefix arg -
prefix for output files
--numThreadsarg (=1)-
number of computational threads
Input options for phasing without a reference:
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--bfile arg -
prefix of PLINK .fam, .bim, .bed files
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--bfilegz arg -
prefix of PLINK .fam.gz, .bim.gz, .bed.gz files
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--fam arg -
PLINK .fam file (note: file names ending in .gz are auto-decompressed)
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--bim arg -
PLINK .bim file
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--bed arg -
PLINK .bed file
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--vcf arg -
[compressed] VCF/BCF file containing input genotypes
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--remove arg -
file(s) listing individuals to ignore (no header; FID IID must be first two columns)
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--exclude arg -
file(s) listing SNPs to ignore (no header; SNP ID must be first column)
|
QC filter: max missing rate per SNP |
|---|---|
|
QC filter: max missing rate per person |
Input/output options for phasing using a reference panel:
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--vcfRef arg -
tabix-indexed [compressed] VCF/BCF file for reference haplotypes
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--vcfTarget arg -
tabix-indexed [compressed] VCF/BCF file for target genotypes
--vcfOutFormatarg (=z)-
b|u|z|v: compressed BCF (b), uncomp BCF (u), compressed VCF (z), uncomp VCF (v)
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--noImpMissing -
disable imputation of missing ./. target genotypes
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--allowRefAltSwap -
allow swapping of REF/ALT in target vs. ref VCF
Region selection options:
|
chromosome to analyze (if input has many) |
|---|---|
|
minimum base pair position to analyze |
|
maximum base pair position to analyze |
|
(ref-mode only) flanking region to use during phasing but discard in output |
Algorithm options:
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number of conditioning haplotypes |
|---|---|
|
number of PBWT phasing iterations (0=auto) |
|
expected length of haplotype copying (cM) |
|
history length multiplier (0=auto) |
|
estimated genotype error probability |
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--pbwtOnly -
in non-ref mode, use only PBWT iters (automatic for sequence data)
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--v1 -
use Eagle1 phasing algorithm (instead of default Eagle2 algorithm)
Releases
Unchanged in 5 releases since Debian 9 (Stretch).