How it works?

Program parameters and options

Mostly used

-vcf [file]
File path of the isolate vcf. Assume all variants are PASS in the QUAL column, the VCF file also reqires the AD field.

Note

In the current implementation, DEploid only take the first sample in the VCF file. DEploid DO NOT handle multi-allelic variants, nor indels. The FILTER column will not be used.

-plaf [file]
File path of population level allele frequencies (tab-delimited plain text file), for example
CHROM POS PLAF
Pf3D7_01_v3 93157 0.0190612159917058
Pf3D7_01_v3 94422 0.135502358766423
Pf3D7_01_v3 94459 0.156294363760064
Pf3D7_01_v3 94487 0.143439298925837
-panel [file]
File path of the reference panel (tab-delimited plain text file), for example
CHROM POS 3D7 Dd2 Hb3 7G8
Pf3D7_01_v3 93157 0 0 0 1
Pf3D7_01_v3 94422 0 0 0 1
Pf3D7_01_v3 94459 0 0 0 1
Pf3D7_01_v3 94487 0 0 0 1
-noPanel
Use population level allele frequency as prior.

Warning

Flags -panel and -noPanel should not be used together.

-exclude [file]
File path of sites to be excluded (tab-delimited plain text file).
-o [string]
Specify the file name prefix of the output.
-k [int]
Number of strain (default value 5).
-seed [int]
Random seed.
-nSample [int]
Number of MCMC samples (default value 800).
-rate [int]
MCMC sample rate (default value 5).
-burn [float]
MCMC burn rate (default value 0.5).
-ibd
Use IBD segment to infer the proportion, then infer the haplotype (see Pf3k work-flow for more details).
-painting [file]
Paint the posterior probability of the given haplotypes.
-inbreeding
Calculate the inbreeding probabilities.
-initialP [float …]
Initialize proportions.
-ibdPainting
IBD painting, compute posterior probabilities of IBD configurations of given strain proportions. This option must be used with flags -initialP.
-h , -help
Help.
-v , -version
DEploid version.
-vcfOut
Save final halpotypes into a VCF file.

You may also try

-ref [file]
File path of reference allele count (tab-delimited plain text file).

Note

In early dEploid versions (prior to v0.2-release), allele counts extracted from the vcf file are placed in two files, and parsed by flags -ref [file] and -alt [file]. Tab-delimited plain text for input. First and second columns record chromosome and position labels respectively. Third columns records the reference allele count or alternative allele count. For example,

Reference allele count
CHROM POS PG0390.C
Pf3D7_01_v3 93157 85
Pf3D7_01_v3 94422 77
Pf3D7_01_v3 94459 90
Pf3D7_01_v3 94487 79
-alt [file]
File path of alternative allele count (tab-delimited plain text file).
Alternative allele count
CHROM POS PG0390.C
Pf3D7_01_v3 93157 0
Pf3D7_01_v3 94422 0
Pf3D7_01_v3 94459 0
Pf3D7_01_v3 94487 0

Warning

Flags -ref and -alt should not be used with -vcf.

-forbidUpdateProp
Forbid MCMC moves to update proportions.
-forbidUpdateSingle
Forbid MCMC moves to update single haplotype.
-forbidUpdatePair
Forbid MCMC moves to update pair haplotypes.
-exportPostProb
Save the posterior probabilities of the final iteration of all strains.
-miss [float]
Miss copying probability.
-recomb [float]
Constant recombination probability.
-p [int]
Output precision (default value 8).
-c [float]
Specify scaling parameter c, which reflects how much data is available (default value 100.0).
-G [float]
Specify scaling parameter for genetic map (default value of 20.0).
-sigma [float]
Specify the variance parameter for proportion estimation (default value of 5.0).
-ibdSigma [flat]
Specify the variance parameter for proportion estimation when IBD method is used (default value of 20.0).
-initialHap [file]
Specify initial haplotypes of deconvolution.

R utilities

Flags -vcf, -plaf, -ref, -alt, -exclude, -o usage are the same as DEploid. Additionally, we have the following flags:

-dEprefix [string]
Prefix of DEploid output.
-inbreeding
Painting haplotype inbreeding posterior probabilities.
-ADFieldIndex
The index of AD field (2 by default).
-filter.threshold [float]
Filtering threshold (0.995 by default).
-filter.window [int]
Filtering window (10 by default).
-pdf
Produce figures in pdf rather than png.
-ibd
Produce figures for IBD process.
-ring
Produce circular genome plots for WSAF and haplotype posterior painting probabilities.

Example of data exploration

Use our data exploration tools to investigate the data.

$ utilities/dataExplore.r -vcf data/exampleData/PG0390-C.eg.vcf.gz \
 -plaf data/exampleData/labStrains.eg.PLAF.txt \
 -o PG0390-C
Plot alternative allele and reference allele counts to identify evidence of mixed infection in *Pf3k* sample PG0390-C.
  • Figure on the top plot total allele counts across all markers. We use the threshold (red line) to identify markers with extremely high allele counts. Red crosses indicate markers that are filtered out.
  • Figure on the left plots the alternative allele count against the reference allele count. As P. falciparum genomes are haploid, in clonal samples, one woule expect to see either alternative or reference allele at any sites. Heterozygous sites are indications of mixed infection.
  • Figure in the middle is the histogram of the allele frequency within sample. Note that we exclude markers with WSAF strictly equal to 0s and 1s in the histogram.
  • Figure on the right show allele frequency within sample, compare against the population average.