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add vcf_nipt cmd
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Zilong-Li committed Sep 3, 2024
1 parent 749c838 commit ae10ed1
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98 changes: 98 additions & 0 deletions tools/vcf_nipt.cpp
Original file line number Diff line number Diff line change
@@ -0,0 +1,98 @@
// -*- compile-command: "g++ vcf_nipt.cpp -std=c++11 -g -O3 -Wall -I.. -lhts" -*-
#include "vcfpp.h"
#include <cmath>

using namespace std;
using namespace vcfpp;

int main(int argc, char * argv[])
{
// ========= helper message and parameters parsing ============================
std::vector<std::string> args(argv + 1, argv + argc);
if(argc <= 1 || args[0] == "-h" || args[0] == "-help" || args[0] == "--help")
{
std::cout << "Author: Zilong-Li ([email protected])\n"
<< "Description:\n"
<< " process the VCF outputted by QUILT2 NIPT\n\n"
<< "Usage example:\n"
<< " " + (std::string)argv[0] + " -i in.bcf \n"
<< " " + (std::string)argv[0] + " -i in.bcf -o out.bcf -s ^S1,S2 -r chr1:1-1000 \n"
<< " bcftools view in.bcf | " + (std::string)argv[0] + " -i - -o out.bcf \n"
<< "\nOptions:\n"
<< " -i input vcf/bcf file\n"
<< " -o ouput prefix. \n"
<< " -s list of samples to be included or excluded\n"
<< " -r specific region to be included\n"
<< std::endl;
return 1;
}
std::string invcf, outvcf = "nipt", samples = "-", region = "";
for(size_t i = 0; i < args.size(); i++)
{
if(args[i] == "-i") invcf = args[++i];
if(args[i] == "-o") outvcf = args[++i];
if(args[i] == "-s") samples = args[++i];
if(args[i] == "-r") region = args[++i];
}
// ========= core calculation part ===========================================
BcfReader vcf(invcf, region, samples);
std::string outmat = outvcf + ".mat.vcf.gz";
std::string outfet = outvcf + ".fet.vcf.gz";
BcfWriter mw(outmat, "VCF4.2"), fw(outfet, "VCF4.2");
{
mw.header.addFORMAT("GT", "1", "String", "Phased genotypes");
mw.header.addFORMAT("GP", "3", "Float", "Genotype probabilities");
mw.header.addFORMAT("DS", "1", "Float", "Genotype dosages");
mw.header.addFILTER("PASS", "All filters passed");
for(auto & s : vcf.header.getSamples()) mw.header.addSample(s);
for(auto & s : vcf.header.getSeqnames()) mw.header.addContig(s);
}
{
fw.header.addFORMAT("GT", "1", "String", "Phased genotypes");
fw.header.addFORMAT("GP", "3", "Float", "Genotype probabilities");
fw.header.addFORMAT("DS", "1", "Float", "Genotype dosages");
fw.header.addFILTER("PASS", "All filters passed");
for(auto & s : vcf.header.getSamples()) fw.header.addSample(s);
for(auto & s : vcf.header.getSeqnames()) fw.header.addContig(s);
}
BcfRecord war(mw.header);
int N = vcf.nsamples, i{0};
vector<int> gts, mgt(N * 2), fgt(N * 2);
vector<float> mgp, fgp, mds, fds;
const vector<char> phased(N, 1);
war.setPhasing(phased);
war.setQUAL('.');
war.setFILTER("PASS");
BcfRecord var(vcf.header);
while(vcf.getNextVariant(var))
{
var.getGenotypes(gts);
var.getFORMAT("MGP", mgp);
var.getFORMAT("FGP", fgp);
var.getFORMAT("MDS", mds);
var.getFORMAT("FDS", fds);
for(i = 0; i < N; i++)
{
mgt[i * 2 + 0] = gts[i * 3 + 0];
mgt[i * 2 + 1] = gts[i * 3 + 1];
fgt[i * 2 + 0] = gts[i * 3 + 0];
fgt[i * 2 + 1] = gts[i * 3 + 2];
}
war.setCHR(var.CHROM().c_str());
war.setPOS(var.POS());
war.setRefAlt(var.REF() + "," + var.ALT());
war.setID(var.ID().c_str());
war.setGenotypes(mgt);
war.setFORMAT("GP", mgp);
war.setFORMAT("DS", mds);
mw.writeRecord(war);
war.setGenotypes(fgt);
war.setFORMAT("GP", fgp);
war.setFORMAT("DS", fds);
fw.writeRecord(war);
}
mw.close();
fw.close();

return 0;
}
35 changes: 27 additions & 8 deletions vcfpp.h
Original file line number Diff line number Diff line change
Expand Up @@ -2,7 +2,7 @@
* @file https://github.com/Zilong-Li/vcfpp/vcfpp.h
* @author Zilong Li
* @email [email protected]
* @version v0.4.2
* @version v0.5.0
* @breif a single C++ file for manipulating VCF
* Copyright (C) 2022-2023.The use of this code is governed by the LICENSE file.
******************************************************************************/
Expand Down Expand Up @@ -1231,9 +1231,9 @@ class BcfRecord
}

/** @brief modify CHROM value */
inline void setCHR(const char * chr)
inline void setCHR(const std::string & s)
{
line->rid = bcf_hdr_name2id(header->hdr, chr);
line->rid = bcf_hdr_name2id(header->hdr, s.c_str());
}

/** @brief modify position given 1-based value */
Expand All @@ -1243,15 +1243,34 @@ class BcfRecord
}

/** @brief update ID */
inline void setID(const char * s)
inline void setID(const std::string & s)
{
bcf_update_id(header->hdr, line.get(), s);
bcf_update_id(header->hdr, line.get(), s.c_str());
}

/** @brief set REF and ALT alleles given a string seperated by comma */
inline void setRefAlt(const char * alleles_string)
inline void setRefAlt(const std::string & s)
{
bcf_update_alleles_str(header->hdr, line.get(), alleles_string);
bcf_update_alleles_str(header->hdr, line.get(), s.c_str());
}

/** @brief modify the QUAL value */
inline void setQUAL(float q)
{
line->qual = q;
}

/** @brief modify the QUAL value */
inline void setQUAL(char q)
{
bcf_float_set_missing(line->qual);
}

/** @brief modify the FILTER value */
inline void setFILTER(const std::string & s)
{
int32_t tmpi = bcf_hdr_id2int(header->hdr, BCF_DT_ID, s.c_str());
bcf_add_filter(header->hdr, line.get(), tmpi);
}

/** @brief return 0-base start of the variant (can be any type) */
Expand Down Expand Up @@ -1751,7 +1770,7 @@ class BcfWriter
}

/// copy header of given VCF and restrict on samples
void copyHeader(const std::string & vcffile, std::string samples = "-")
void copyHeader(const std::string & vcffile, std::string samples = "-")
{
htsFile * fp2 = hts_open(vcffile.c_str(), "r");
if(!fp2) throw std::invalid_argument("I/O error: input file is invalid");
Expand Down

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