.\" .TH EAGLE 1 "September 2016" "2.3" .SH NAME eagle \- Haplotype phasing within a genotyped cohort or using a phased reference panel .SH SYNOPSIS .B eagle [\fIoptions\fR] .SH DESCRIPTION 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. .SH OPTIONS .TP \fB\-h\fR, \fB\-\-help\fR Print this help .TP \fB\-\-geneticMapFile\fR arg HapMap genetic map provided with download: tables/genetic_map_hg##.txt.gz .TP \fB\-\-outPrefix\fR arg prefix for output files .TP \fB\-\-numThreads\fR arg (=1) number of computational threads .SS "Input options for phasing without a reference:" .TP \fB\-\-bfile\fR arg prefix of PLINK .fam, .bim, .bed files .TP \fB\-\-bfilegz\fR arg prefix of PLINK .fam.gz, .bim.gz, .bed.gz files .TP \fB\-\-fam\fR arg PLINK .fam file (note: file names ending in \&.gz are auto\-decompressed) .TP \fB\-\-bim\fR arg PLINK .bim file .TP \fB\-\-bed\fR arg PLINK .bed file .TP \fB\-\-vcf\fR arg [compressed] VCF/BCF file containing input genotypes .TP \fB\-\-remove\fR arg file(s) listing individuals to ignore (no header; FID IID must be first two columns) .TP \fB\-\-exclude\fR arg file(s) listing SNPs to ignore (no header; SNP ID must be first column) .TP \fB\-\-maxMissingPerSnp\fR arg (=0.1) QC filter: max missing rate per SNP .TP \fB\-\-maxMissingPerIndiv\fR arg (=0.1) QC filter: max missing rate per person .SS "Input/output options for phasing using a reference panel:" .TP \fB\-\-vcfRef\fR arg tabix\-indexed [compressed] VCF/BCF file for reference haplotypes .TP \fB\-\-vcfTarget\fR arg tabix\-indexed [compressed] VCF/BCF file for target genotypes .TP \fB\-\-vcfOutFormat\fR arg (=z) b|u|z|v: compressed BCF (b), uncomp BCF (u), compressed VCF (z), uncomp VCF (v) .TP \fB\-\-noImpMissing\fR disable imputation of missing ./. target genotypes .TP \fB\-\-allowRefAltSwap\fR allow swapping of REF/ALT in target vs. ref VCF .SS "Region selection options:" .TP \fB\-\-chrom\fR arg (=0) chromosome to analyze (if input has many) .TP \fB\-\-bpStart\fR arg (=0) minimum base pair position to analyze .TP \fB\-\-bpEnd\fR arg (=1e9) maximum base pair position to analyze .TP \fB\-\-bpFlanking\fR arg (=0) (ref\-mode only) flanking region to use during phasing but discard in output .SS "Algorithm options:" .TP \fB\-\-Kpbwt\fR arg (=10000) number of conditioning haplotypes .TP \fB\-\-pbwtIters\fR arg (=0) number of PBWT phasing iterations (0=auto) .TP \fB\-\-expectIBDcM\fR arg (=2.0) expected length of haplotype copying (cM) .TP \fB\-\-histFactor\fR arg (=0) history length multiplier (0=auto) .TP \fB\-\-genoErrProb\fR arg (=0.003) estimated genotype error probability .TP \fB\-\-pbwtOnly\fR in non\-ref mode, use only PBWT iters (automatic for sequence data) .TP \fB\-\-v1\fR use Eagle1 phasing algorithm (instead of default Eagle2 algorithm) .PP .SH SEE ALSO .BR https://data.broadinstitute.org/alkesgroup/Eagle/ .SH COPYRIGHT Copyright \(co 2015\-2016 Harvard University. Distributed under the GNU GPLv3+ open source license.