shapeit4 - fast and accurate method for estimation of haplotypes (phasing)
Contents
Description
Segmented HAPlotype Estimation and Imputation Tools version 4 (SHAPEIT4). SHAPEIT4 is a fast and
accurate method for estimation of haplotypes (aka phasing) for SNP array and sequencing data. It
includes a Positional Burrow Wheeler Transform (PBWT) based approach to quickly select a small set of
informative conditioning haplotypes to be used when updating the phase of an individual. It accounts for
sets of pre-phased genotypes (i.e. haplotype scaffold). The scaffold can be derived either from family
data or large reference panels. It reads and writes files using HTSlib for better I/O performance in
either VCF or BCF formats. The genotype graph and HMM routines have been re-implemented for better
hardware usage and performance.
Name
shapeit4 - fast and accurate method for estimation of haplotypes (phasing)
Options
Basicoptions--help
Produce help message
--seed arg (=15052011)
Seed of the random number generator
-T,--thread arg (=1)
Number of thread used
Inputfiles-I,--input arg
Genotypes to be phased in VCF/BCF format
-H,--reference arg
Reference panel of haplotypes in VCF/BCF format
-S,--scaffold arg
Scaffold of haplotypes in VCF/BCF format
-M,--map arg
Genetic map
-R,--region arg
Target region
--use-PS arg
Informs phasing using PS field from read based phasing
MCMCparameters--mcmc-iterations arg (=5b,1p,1b,1p,1b,1p,5m)
Iteration scheme of the MCMC
--mcmc-prune arg (=0.999)
Pruning threshold
--mcmc-store-K arg
Store K sizes in last iterations
PBWTparameters--pbwt-disable-init
Do not initialise haplotypes by PBWT (rephase input haplotype data)
--pbwt-modulo arg (=8)
Storage frequency of PBWT indexes in variant numbers (i.e. 16 means storage every 16 variants)
--pbwt-depth arg (=4)
Depth of PBWT indexes to condition on
HMMparameters-W,--window arg (=2000000)
Minimal size of the phasing window
--effective-size arg (=15000)
Effective size of the population
Outputfiles-O,--output arg
Phased haplotypes in VCF/BCF format
--log arg
Log file
See Also
https://odelaneau.github.io/shapeit4/
Synopsis
shapeit4 [options]
