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/*
* Copyright (C) 2014-2021 Brian L. Browning
*
* This file is part of Beagle
*
* Beagle is free software: you can redistribute it and/or modify
* it under the terms of the GNU General Public License as published by
* the Free Software Foundation, either version 3 of the License, or
* (at your option) any later version.
*
* Beagle is distributed in the hope that it will be useful,
* but WITHOUT ANY WARRANTY; without even the implied warranty of
* MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the
* GNU General Public License for more details.
*
* You should have received a copy of the GNU General Public License
* along with this program. If not, see <http://www.gnu.org/licenses/>.
*/
package main;
import beagleutil.ChromInterval;
import blbutil.Const;
import blbutil.Validate;
import java.io.File;
import java.util.Map;
/**
* <p>Class {@code Parameters} represents the parameters for a Beagle analysis.
* </p>
* <p>Instances of class {@code Parameters} are immutable.
* </p>
*
* @author Brian L. Browning {@code <browning@uw.edu>}
*/
public final class Par {
private final String[] args;
private final boolean noNThreads;
// data parameters
private final File gt;
private final File ref;
private final String out;
private final File ped;
private final File map;
private final ChromInterval chromInt;
private final File excludesamples;
private final File excludemarkers;
// phasing parameters
private final int burnin;
private final int iterations;
private final int phase_states;
private final float step_scale;
private final float rare;
// imputation parameters
private final boolean impute;
private final int imp_states;
private final float imp_segment;
private final float imp_step;
private final int imp_nsteps;
private final float cluster;
private final boolean ap;
private final boolean gp;
// general parameters
private final boolean em;
private final float ne;
private final float err;
private final float window;
private final float overlap;
private final long seed;
private final int nthreads;
private final float buffer;
// undocumented parameters
private final File truth;
// default phasing parameters
private static final int D_BURNIN = 3;
private static final int D_ITERATIONS = 12;
private static final int D_PHASE_STATES = 280;
private static final float D_STEP_SCALE = 3.0f;
private static final float D_RARE = 0.002f;
// default imputation parameters
private static final boolean D_IMPUTE = true;
private static final int D_IMP_STATES = 1600;
private static final float D_IMP_SEGMENT = 6.0f;
private static final float D_IMP_STEP = 0.1f;
private static final int D_IMP_NSTEPS = 7;
private static final float D_CLUSTER = 0.005f;
private static final boolean D_AP = false;
private static final boolean D_GP = false;
// default general parameters
private static final boolean D_EM = true;
private static final int D_NE = 100_000;
private static final float D_ERR = -Float.MIN_VALUE;
private static final float D_WINDOW = 40.0f;
private static final float D_OVERLAP = 2.0f;
private static final int D_SEED = -99999;
private static final int D_NTHREADS = Integer.MAX_VALUE;
private static final float D_BUFFER = 1.0f;
/**
* Constructs a new {@code Parameters} instance from the specified
* command line arguments.
* @param args the command line arguments
* @throws IllegalArgumentException if a command line argument
* is incorrectly specified
* @throws NumberFormatException if a numeric value for a parameter
* is incorrectly specified
* @throws NullPointerException if {@code args == null}
*/
public Par(String[] args) {
int IMAX = Integer.MAX_VALUE;
long LMIN = Long.MIN_VALUE;
long LMAX = Long.MAX_VALUE;
float FMIN = Float.MIN_VALUE;
float FMAX = Float.MAX_VALUE;
this.args = args.clone();
Map<String, String> argsMap = Validate.argsToMap(args, '=');
// data input/output parameters
gt = Validate.getFile(
Validate.stringArg("gt", argsMap, true, null, null));
ref = Validate.getFile(
Validate.stringArg("ref", argsMap, false, null, null));
out = Validate.stringArg("out", argsMap, true, null, null);
ped = Validate.getFile(
Validate.stringArg("ped", argsMap, false, null, null));
map = Validate.getFile(Validate.stringArg("map", argsMap, false, null, null));
chromInt = parseChromInt(Validate.stringArg("chrom", argsMap, false, null, null));
excludesamples = Validate.getFile(
Validate.stringArg("excludesamples", argsMap, false, null, null));
excludemarkers = Validate.getFile(
Validate.stringArg("excludemarkers", argsMap, false, null, null));
// phasing parameters
burnin = Validate.intArg("burnin", argsMap, false, D_BURNIN, 1, IMAX);
iterations = Validate.intArg("iterations", argsMap, false, D_ITERATIONS, 1, IMAX);
phase_states = Validate.intArg("phase-states", argsMap, false, D_PHASE_STATES, 1, IMAX);
step_scale = Validate.floatArg("step-scale", argsMap, false, D_STEP_SCALE, FMIN, FMAX);
rare = Validate.floatArg("rare", argsMap, false, D_RARE, FMIN, 0.5f);
// imputation parameters
impute = Validate.booleanArg("impute", argsMap, false, D_IMPUTE);
imp_states = Validate.intArg("imp-states", argsMap, false, D_IMP_STATES, 1, IMAX);
imp_segment = Validate.floatArg("imp-segment", argsMap, false, D_IMP_SEGMENT, FMIN, FMAX);
imp_step = Validate.floatArg("imp-step", argsMap, false, D_IMP_STEP, FMIN, FMAX);
imp_nsteps = Validate.intArg("imp-nsteps", argsMap, false, D_IMP_NSTEPS, 1, IMAX);
cluster = Validate.floatArg("cluster", argsMap, false, D_CLUSTER, 0.0f, FMAX);
ap = Validate.booleanArg("ap", argsMap, false, D_AP);
gp = Validate.booleanArg("gp", argsMap, false, D_GP);
// general parameters
em = Validate.booleanArg("em", argsMap, false, D_EM);
ne = Validate.floatArg("ne", argsMap, false, D_NE, FMIN, FMAX);
err = Validate.floatArg("err", argsMap, false, D_ERR, -FMIN, FMAX);
window = Validate.floatArg("window", argsMap, false, D_WINDOW, FMIN, FMAX);
overlap = Validate.floatArg("overlap", argsMap, false, D_OVERLAP, FMIN, FMAX);
buffer = Validate.floatArg("buffer", argsMap, false, D_BUFFER, FMIN, FMAX);
seed = Validate.longArg("seed", argsMap, false, D_SEED, LMIN, LMAX);
int rawNThreads = Validate.intArg("nthreads", argsMap, false, D_NTHREADS, 1, IMAX);
noNThreads = rawNThreads==D_NTHREADS;
nthreads = noNThreads ? Runtime.getRuntime().availableProcessors() : rawNThreads;
// undocumented parameters
truth = Validate.getFile(Validate.stringArg("truth", argsMap, false, null, null));
Validate.confirmEmptyMap(argsMap);
}
/**
* Returns the command line arguments.
* @return the command line arguments
*/
public String[] args() {
return args.clone();
}
/**
* Returns {@code true} if the command line does not include an
* nthreads parameter and returns {@code false otherwise}.
* @return {@code true} if the command line does not include an
* nthreads parameter
*/
public boolean noNThreads() {
return noNThreads;
}
/**
* Returns a description of the Beagle command line arguments.
* @return a description of the Beagle command line arguments
*/
public static String usage() {
String nl = Const.nl;
return "Usage: " + Main.COMMAND + " [arguments]" + nl
+ nl
+ "data parameters ..." + nl
+ " gt=<VCF file with GT FORMAT field> (required)" + nl
+ " ref=<bref3 or VCF file with phased genotypes> (optional)" + nl
+ " out=<output file prefix> (required)" + nl
// + " ped=<linkage format pedigree file> (optional)" + nl
+ " map=<PLINK map file with cM units> (optional)" + nl
+ " chrom=<[chrom] or [chrom]:[start]-[end]> (optional)" + nl
+ " excludesamples=<file with 1 sample ID per line> (optional)" + nl
+ " excludemarkers=<file with 1 marker ID per line> (optional)" + nl + nl
+ "phasing parameters ..." + nl
+ " burnin=<max burnin iterations> (default=" + D_BURNIN + ")" + nl
+ " iterations=<phasing iterations> (default=" + D_ITERATIONS + ")" + nl
+ " phase-states=<model states for phasing> (default=" + D_PHASE_STATES + ")" + nl + nl
+ "imputation parameters ..." + nl
+ " impute=<impute ungenotyped markers (true/false)> (default=" + D_IMPUTE + ")" + nl
+ " imp-states=<model states for imputation> (default=" + D_IMP_STATES + ")" + nl
+ " cluster=<max cM in a marker cluster> (default=" + D_CLUSTER + ")" + nl
+ " ap=<print posterior allele probabilities> (default=" + D_AP + ")" + nl
+ " gp=<print posterior genotype probabilities> (default=" + D_GP + ")" + nl + nl
+ "general parameters ..." + nl
+ " ne=<effective population size> (default=" + D_NE + ")" + nl
+ " err=<allele mismatch probability> (default: data dependent)" + nl
+ " em=<estimate ne and err parameters (true/false)> (default=" + D_EM + ")" + nl
+ " window=<window length in cM> (default=" + D_WINDOW + ")" + nl
+ " overlap=<window overlap in cM> (default=" + D_OVERLAP + ")" + nl
+ " seed=<random seed> (default=" + D_SEED + ")" + nl
+ " nthreads=<number of threads> (default: machine dependent)" + nl + nl;
}
private static ChromInterval parseChromInt(String str) {
ChromInterval ci = ChromInterval.parse(str);
if (str!=null && str.length()>0 && ci==null) {
throw new IllegalArgumentException("Invalid chrom parameter: " + str);
}
return ci;
}
// data parameters
/**
* Returns the gt parameter or {@code null} if no gt parameter was
* specified.
* @return the gt parameter or {@code null} if no gt parameter was
* specified
*/
public File gt() {
return gt;
}
/**
* Returns the ref parameter or {@code null} if no ref parameter was
* specified.
* @return the ref parameter or {@code null} if no ref parameter was
* specified
*/
public File ref() {
return ref;
}
/**
* Returns the out parameter.
* @return the out parameter
*/
public String out() {
return out;
}
/**
* Returns the ped parameter or {@code null}
* if no ped parameter was specified.
*
* @return the ped parameter or {@code null}
* if no ped parameter was specified
*/
public File ped() {
return null;
}
/**
* Returns the map parameter.
* @return the map parameter
*/
public File map() {
return map;
}
/**
* Returns the chromosome interval or {@code null} if no chrom
* parameter was specified.
*
* @return the chromosome interval or {@code null} if no chrom
* parameter was specified.
*/
public ChromInterval chromInt() {
return chromInt;
}
/**
* Returns the excludesamples parameter or {@code null}
* if no excludesamples parameter was specified.
*
* @return the excludesamples parameter or {@code null}
* if no excludesamples parameter was specified
*/
public File excludesamples() {
return excludesamples;
}
/**
* Returns the excludemarkers parameter or {@code null}
* if no excludemarkers parameter was specified.
*
* @return the excludemarkers parameter or {@code null}
* if no excludemarkers parameter was specified
*/
public File excludemarkers() {
return excludemarkers;
}
// phasing parameters
/**
* Returns the burnin parameter.
* @return the burnin parameter
*/
public int burnin() {
return burnin;
}
/**
* Returns the iterations parameter.
* @return the iterations parameter
*/
public int iterations() {
return iterations;
}
/**
* Returns the phase-states parameter.
* @return the phase-states parameter
*/
public int phase_states() {
return phase_states;
}
/**
* Returns the step-scale parameter.
* @return the step-scale parameter
*/
public float step_scale() {
return step_scale;
}
/**
* Returns the rare parameter
* @return the rare parameter
*/
public float rare() {
return rare;
}
// imputation parameters
/**
* Returns the impute parameter.
* @return the impute parameter
*/
public boolean impute() {
return impute;
}
/**
* Returns the imp-states parameter.
* @return the imp-states parameter
*/
public int imp_states() {
return imp_states;
}
/**
* Returns the imp-segment parameter.
* @return the imp-segment parameter
*/
public float imp_segment() {
return imp_segment;
}
/**
* Returns the imp-step parameter.
* @return the imp-step parameter
*/
public float imp_step() {
return imp_step;
}
/**
* Returns the imp-nsteps parameter.
* @return the imp-nsteps parameter
*/
public int imp_nsteps() {
return imp_nsteps;
}
/**
* Returns the cluster parameter.
* @return the cluster parameter
*/
public float cluster() {
return cluster;
}
/**
* Returns the ap parameter.
* @return the ap parameter
*/
public boolean ap() {
return ap;
}
/**
* Returns the gp parameter.
* @return the gp parameter
*/
public boolean gp() {
return gp;
}
// general parameters
/**
* Returns the em parameter.
* @return the em parameter
*/
public boolean em() {
return em;
}
/**
* Returns the ne parameter
* @return the ne parameter
*/
public float ne() {
return ne;
}
/**
* Returns the default allele mismatch parameter for the specified number
* of haplotypes.
* @param nHaps the number of reference and target haplotypes
* @return the default allele mismatch parameter for the specified number
* of haplotypes
*/
public float err(int nHaps) {
if (nHaps <= 0) {
throw new IllegalArgumentException(String.valueOf(nHaps));
}
return (err>=0) ? err : liStephensPMismatch(nHaps);
}
/**
* <p>Return an approximation to the allele mismatch probability suggested by
* Li and Stephens. The approximation uses a Riemann sum approximation
* of the natural log function.</p>
*
* <p>Refs:
* Li N, Stephens M. Genetics 2003 Dec;165(4):2213-33 and
* Marchini J, Howie B. Myers S, McVean G, Donnelly P. 2007;39(7):906-13.</p>
*
* @param nHaps the number of haplotypes
* @return the allele mismatch probability suggested by Li and Stepehens
*/
public static float liStephensPMismatch(int nHaps) {
double theta = 1/((Math.log(nHaps) + 0.5));
return (float) (theta/(2*(theta + nHaps)));
}
/**
* Returns the window parameter.
* @return the window parameter
*/
public float window() {
return window;
}
/**
* Return the overlap parameter.
* @return the overlap parameter.
*/
public float overlap() {
return overlap;
}
/**
* Return the buffer parameter.
* @return the buffer parameter.
*/
public float buffer() {
return buffer;
}
/**
* Returns the seed parameter.
* @return the seed parameter
*/
public long seed() {
return seed;
}
/**
* Returns the nthreads parameter.
* @return the nthreads parameter
*/
public int nthreads() {
return nthreads;
}
// undocumented parameters
/**
* Returns the truth parameter
* @return the truth
*/
public File truth() {
return truth;
}
}
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