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vcfconvert.c
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/* vcfconvert.c -- convert between VCF/BCF and related formats.
Copyright (C) 2013-2014 Genome Research Ltd.
Author: Petr Danecek <[email protected]>
Permission is hereby granted, free of charge, to any person obtaining a copy
of this software and associated documentation files (the "Software"), to deal
in the Software without restriction, including without limitation the rights
to use, copy, modify, merge, publish, distribute, sublicense, and/or sell
copies of the Software, and to permit persons to whom the Software is
furnished to do so, subject to the following conditions:
The above copyright notice and this permission notice shall be included in
all copies or substantial portions of the Software.
THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR
IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY,
FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE
AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER
LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM,
OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN
THE SOFTWARE. */
#include <stdio.h>
#include <unistd.h>
#include <getopt.h>
#include <ctype.h>
#include <string.h>
#include <errno.h>
#include <sys/stat.h>
#include <sys/types.h>
#include <htslib/faidx.h>
#include <htslib/vcf.h>
#include <htslib/bgzf.h>
#include <htslib/synced_bcf_reader.h>
#include <htslib/vcfutils.h>
#include <htslib/kseq.h>
#include "bcftools.h"
#include "filter.h"
#include "convert.h"
#include "tsv2vcf.h"
// Logic of the filters: include or exclude sites which match the filters?
#define FLT_INCLUDE 1
#define FLT_EXCLUDE 2
typedef struct _args_t args_t;
struct _args_t
{
faidx_t *ref;
filter_t *filter;
char *filter_str;
int filter_logic; // include or exclude sites which match the filters? One of FLT_INCLUDE/FLT_EXCLUDE
convert_t *convert;
bcf_srs_t *files;
bcf_hdr_t *header;
void (*convert_func)(struct _args_t *);
struct {
int total, skipped, hom_rr, het_ra, hom_aa, het_aa, missing;
} n;
kstring_t str;
int32_t *gts;
float *flt;
int rev_als, output_vcf_ids, hap2dip;
int nsamples, *samples, sample_is_file, targets_is_file, regions_is_file, output_type;
char **argv, *sample_list, *targets_list, *regions_list, *tag, *columns;
char *outfname, *infname, *ref_fname;
int argc;
};
static void destroy_data(args_t *args)
{
if ( args->convert) convert_destroy(args->convert);
if ( args->filter ) filter_destroy(args->filter);
free(args->samples);
if ( args->files ) bcf_sr_destroy(args->files);
}
static void open_vcf(args_t *args, const char *format_str)
{
args->files = bcf_sr_init();
if ( args->regions_list )
{
if ( bcf_sr_set_regions(args->files, args->regions_list, args->regions_is_file)<0 )
error("Failed to read the regions: %s\n", args->regions_list);
}
if ( args->targets_list )
{
if ( bcf_sr_set_targets(args->files, args->targets_list, args->targets_is_file, 0)<0 )
error("Failed to read the targets: %s\n", args->targets_list);
}
if ( !bcf_sr_add_reader(args->files, args->infname) )
error("Failed to open %s: %s\n", args->infname,bcf_sr_strerror(args->files->errnum));
if ( args->filter_str )
args->filter = filter_init(args->header, args->filter_str);
args->header = args->files->readers[0].header;
int i, nsamples = 0, *samples = NULL;
if ( args->sample_list && strcmp("-",args->sample_list) )
{
for (i=0; i<args->files->nreaders; i++)
{
int ret = bcf_hdr_set_samples(args->files->readers[i].header,args->sample_list,args->sample_is_file);
if ( ret<0 ) error("Error parsing the sample list\n");
else if ( ret>0 ) error("Sample name mismatch: sample #%d not found in the header\n", ret);
}
if ( args->sample_list[0]!='^' )
{
// the sample ordering may be different if not negated
int n;
char **smpls = hts_readlist(args->sample_list, args->sample_is_file, &n);
if ( !smpls ) error("Could not parse %s\n", args->sample_list);
if ( n!=bcf_hdr_nsamples(args->files->readers[0].header) )
error("The number of samples does not match, perhaps some are present multiple times?\n");
nsamples = bcf_hdr_nsamples(args->files->readers[0].header);
samples = (int*) malloc(sizeof(int)*nsamples);
for (i=0; i<n; i++)
{
samples[i] = bcf_hdr_id2int(args->files->readers[0].header, BCF_DT_SAMPLE,smpls[i]);
free(smpls[i]);
}
free(smpls);
}
}
args->convert = convert_init(args->header, samples, nsamples, format_str);
free(samples);
if ( args->filter_str )
args->filter = filter_init(args->header, args->filter_str);
}
static int tsv_setter_chrom_pos_ref_alt(tsv_t *tsv, bcf1_t *rec, void *usr)
{
args_t *args = (args_t*) usr;
char tmp, *se = tsv->ss, *ss = tsv->ss;
while ( se < tsv->se && *se!=':' ) se++;
if ( *se!=':' ) error("Could not parse CHROM in CHROM:POS_REF_ALT id: %s\n", tsv->ss);
tmp = *se; *se = 0;
rec->rid = bcf_hdr_name2id(args->header,ss);
if ( rec->rid<0 ) error("Could not determine sequence name or multiple sequences present: %s\n", tsv->ss);
*se = tmp;
// POS
rec->pos = strtol(se+1,&ss,10);
if ( ss==se+1 ) error("Could not parse POS in CHROM:POS_REF_ALT: %s\n", tsv->ss);
rec->pos--;
// REF,ALT
args->str.l = 0;
se = ++ss;
while ( se < tsv->se && *se!='_' ) se++;
if ( *se!='_' ) error("Could not parse REF in CHROM:POS_REF_ALT id: %s\n", tsv->ss);
kputsn(ss,se-ss,&args->str);
ss = ++se;
while ( se < tsv->se && *se!=':' ) se++;
if ( se < tsv->se && *se!=':' ) error("Could not parse ALT in CHROM:POS_REF_ALT id: %s\n", tsv->ss);
kputc(',',&args->str);
kputsn(ss,se-ss,&args->str);
bcf_update_alleles_str(args->header, rec, args->str.s);
return 0;
}
static int tsv_setter_verify_pos(tsv_t *tsv, bcf1_t *rec, void *usr)
{
char *se;
int pos = strtol(tsv->ss,&se,10);
if ( tsv->ss==se ) error("Could not parse POS: %s\n", tsv->ss);
if ( rec->pos != pos-1 ) error("POS mismatch: %s\n", tsv->ss);
return 0;
}
static int tsv_setter_verify_ref_alt(tsv_t *tsv, bcf1_t *rec, void *usr)
{
args_t *args = (args_t*) usr;
args->rev_als = 0;
char tmp = *tsv->se; *tsv->se = 0;
if ( strcmp(tsv->ss,rec->d.allele[0]) )
{
if ( strcmp(tsv->ss,rec->d.allele[1]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[1]); }
args->rev_als = 1;
}
*tsv->se = tmp;
while ( *tsv->se && isspace(*tsv->se) ) tsv->se++;
tsv->ss = tsv->se;
while ( *tsv->se && !isspace(*tsv->se) ) tsv->se++;
tmp = *tsv->se; *tsv->se = 0;
if ( !args->rev_als && strcmp(tsv->ss,rec->d.allele[1]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[1]); }
else if ( args->rev_als && strcmp(tsv->ss,rec->d.allele[0]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[0]); }
*tsv->se = tmp;
return 0;
}
static int tsv_setter_gt_gp(tsv_t *tsv, bcf1_t *rec, void *usr)
{
args_t *args = (args_t*) usr;
int i, nsamples = bcf_hdr_nsamples(args->header);
for (i=0; i<nsamples; i++)
{
float aa,ab,bb;
aa = strtod(tsv->ss, &tsv->se);
if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse first value of %d-th sample\n", i+1); return -1; }
tsv->ss = tsv->se+1;
ab = strtod(tsv->ss, &tsv->se);
if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse second value of %d-th sample\n", i+1); return -1; }
tsv->ss = tsv->se+1;
bb = strtod(tsv->ss, &tsv->se);
if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse third value of %d-th sample\n", i+1); return -1; }
tsv->ss = tsv->se+1;
if ( args->rev_als ) { float tmp = bb; bb = aa; aa = tmp; }
args->flt[3*i+0] = aa;
args->flt[3*i+1] = ab;
args->flt[3*i+2] = bb;
if ( aa >= ab )
{
if ( aa >= bb ) args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(0);
else args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(1);
}
else if ( ab >= bb )
{
args->gts[2*i+0] = bcf_gt_unphased(0);
args->gts[2*i+1] = bcf_gt_unphased(1);
}
else args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(1);
}
if ( *tsv->se ) error("Could not parse: %s\n", tsv->ss);
if ( bcf_update_genotypes(args->header,rec,args->gts,nsamples*2) ) error("Could not update GT field\n");
if ( bcf_update_format_float(args->header,rec,"GP",args->flt,nsamples*3) ) error("Could not update GP field\n");
return 0;
}
static int tsv_setter_haps(tsv_t *tsv, bcf1_t *rec, void *usr)
{
args_t *args = (args_t*) usr;
int i, nsamples = bcf_hdr_nsamples(args->header);
int32_t a0, a1;
if ( args->rev_als ) { a0 = bcf_gt_phased(1); a1 = bcf_gt_phased(0); }
else { a0 = bcf_gt_phased(0); a1 = bcf_gt_phased(1); }
for (i=0; i<nsamples; i++)
{
char *ss = tsv->ss + 4*i;
if ( !ss[0] || !ss[1] || !ss[2] )
{
fprintf(stderr,"Wrong number of fields at %d-th sample ([%c][%c][%c]). ",i+1,ss[0],ss[1],ss[2]);
return -1;
}
if ( ss[0]=='0' ) args->gts[2*i] = a0;
else if ( ss[0]=='1' ) args->gts[2*i] = a1;
else { fprintf(stderr,"Could not parse: [%c][%s]\n", ss[0],tsv->ss); return -1; }
if ( ss[2]=='0' ) args->gts[2*i+1] = a0;
else if ( ss[2]=='1' ) args->gts[2*i+1] = a1;
else { fprintf(stderr,"Could not parse: [%c][%s]\n", ss[2],tsv->ss); return -1; }
}
if ( tsv->ss[(nsamples-1)*4+3] )
{
fprintf(stderr,"Wrong number of fields (%d-th column = [%c]). ", nsamples*2,tsv->ss[(nsamples-1)*4+1]);
return -1;
}
if ( bcf_update_genotypes(args->header,rec,args->gts,nsamples*2) ) error("Could not update GT field\n");
return 0;
}
static void gensample_to_vcf(args_t *args)
{
/*
* Inpute: IMPUTE2 output (indentation changed here for clarity):
*
* 20:62116619_C_T 20:62116619 62116619 C T 0.969 0.031 0 ...
* --- 20:62116698_C_A 62116698 C A 1 0 0 ...
*
* Second column is expected in the form of CHROM:POS_REF_ALT. We use second
* column because the first can be empty ("--") when filling sites from reference
* panel.
*
* Output: VCF with filled GT,GP
*
*/
kstring_t line = {0,0,0};
char *gen_fname = NULL, *sample_fname = NULL;
sample_fname = strchr(args->infname,',');
if ( !sample_fname )
{
args->str.l = 0;
ksprintf(&args->str,"%s.gen.gz", args->infname);
gen_fname = strdup(args->str.s);
args->str.l = 0;
ksprintf(&args->str,"%s.samples", args->infname);
sample_fname = strdup(args->str.s);
}
else
{
*sample_fname = 0;
gen_fname = strdup(args->infname);
sample_fname = strdup(sample_fname+1);
}
htsFile *gen_fh = hts_open(gen_fname, "r");
if ( !gen_fh ) error("Could not read: %s\n", gen_fname);
if ( hts_getline(gen_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", gen_fname);
// Find out the chromosome name, sample names, init and print the VCF header
args->str.l = 0;
char *ss, *se = line.s;
while ( *se && !isspace(*se) ) se++;
if ( !*se ) error("Could not parse %s: %s\n", gen_fname,line.s);
ss = se+1;
se = strchr(ss,':');
if ( !se ) error("Expected CHROM:POS_REF_ALT in second column of %s\n", gen_fname);
kputsn(ss, se-ss, &args->str);
tsv_t *tsv = tsv_init("-,CHROM_POS_REF_ALT,POS,REF_ALT,GT_GP");
tsv_register(tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt, args);
tsv_register(tsv, "POS", tsv_setter_verify_pos, NULL);
tsv_register(tsv, "REF_ALT", tsv_setter_verify_ref_alt, args);
tsv_register(tsv, "GT_GP", tsv_setter_gt_gp, args);
args->header = bcf_hdr_init("w");
bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">");
bcf_hdr_append(args->header, "##FORMAT=<ID=GP,Number=G,Type=Float,Description=\"Genotype Probabilities\">");
bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); // MAX_CSI_COOR
bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert");
int i, nsamples;
char **samples = hts_readlist(sample_fname, 1, &nsamples);
for (i=2; i<nsamples; i++)
{
se = samples[i]; while ( *se && !isspace(*se) ) se++;
*se = 0;
bcf_hdr_add_sample(args->header,samples[i]);
}
for (i=0; i<nsamples; i++) free(samples[i]);
free(samples);
htsFile *out_fh = hts_open(args->outfname,hts_bcf_wmode(args->output_type));
bcf_hdr_write(out_fh,args->header);
bcf1_t *rec = bcf_init();
nsamples -= 2;
args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2);
args->flt = (float *) malloc(sizeof(float)*nsamples*3);
do
{
bcf_clear(rec);
args->n.total++;
if ( !tsv_parse(tsv, rec, line.s) )
bcf_write(out_fh, args->header, rec);
else
error("Error occurred while parsing: %s\n", line.s);
}
while ( hts_getline(gen_fh, KS_SEP_LINE, &line)>0 );
if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname);
if ( hts_close(gen_fh) ) error("Close failed: %s\n", gen_fname);
bcf_hdr_destroy(args->header);
bcf_destroy(rec);
free(sample_fname);
free(gen_fname);
free(args->str.s);
free(line.s);
free(args->gts);
free(args->flt);
tsv_destroy(tsv);
fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total);
}
static void haplegendsample_to_vcf(args_t *args)
{
/*
* Convert from IMPUTE2 hap/legend/sample output files to VCF
*
* hap:
* 0 1 0 1 1 1
* legend:
* id position a0 a1
* 1:186946386_G_T 186946386 G T
* sample:
* QTL190044
* QTL190053
*
* Output: VCF with filled GT
*/
kstring_t line = {0,0,0};
char *hap_fname = NULL, *leg_fname = NULL, *sample_fname = NULL;
sample_fname = strchr(args->infname,',');
if ( !sample_fname )
{
args->str.l = 0;
ksprintf(&args->str,"%s.hap.gz", args->infname);
hap_fname = strdup(args->str.s);
args->str.l = 0;
ksprintf(&args->str,"%s.samples", args->infname);
sample_fname = strdup(args->str.s);
args->str.l = 0;
ksprintf(&args->str,"%s.legend.gz", args->infname);
leg_fname = strdup(args->str.s);
}
else
{
char *ss = sample_fname, *se = strchr(ss+1,',');
if ( !se ) error("Could not parse hap/legend/sample file names: %s\n", args->infname);
*ss = 0;
*se = 0;
hap_fname = strdup(args->infname);
leg_fname = strdup(ss+1);
sample_fname = strdup(se+1);
}
htsFile *hap_fh = hts_open(hap_fname, "r");
if ( !hap_fh ) error("Could not read: %s\n", hap_fname);
htsFile *leg_fh = hts_open(leg_fname,"r");
if ( !leg_fh ) error("Could not read: %s\n", leg_fname);
// Eat up first legend line, then determine chromosome name
if ( hts_getline(leg_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", leg_fname);
if ( hts_getline(leg_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", leg_fname);
// Find out the chromosome name, sample names, init and print the VCF header
args->str.l = 0;
char *se = strchr(line.s,':');
if ( !se ) error("Expected CHROM:POS_REF_ALT in first column of %s\n", leg_fname);
kputsn(line.s, se-line.s, &args->str);
tsv_t *leg_tsv = tsv_init("CHROM_POS_REF_ALT,POS,REF_ALT");
tsv_register(leg_tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt, args);
tsv_register(leg_tsv, "POS", tsv_setter_verify_pos, NULL);
tsv_register(leg_tsv, "REF_ALT", tsv_setter_verify_ref_alt, args);
tsv_t *hap_tsv = tsv_init("HAPS");
tsv_register(hap_tsv, "HAPS", tsv_setter_haps, args);
args->header = bcf_hdr_init("w");
bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">");
bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); // MAX_CSI_COOR
bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert");
int i, nsamples;
char **samples = hts_readlist(sample_fname, 1, &nsamples);
for (i=0; i<nsamples; i++)
{
se = samples[i]; while ( *se && !isspace(*se) ) se++;
*se = 0;
bcf_hdr_add_sample(args->header,samples[i]);
}
bcf_hdr_add_sample(args->header,NULL);
for (i=0; i<nsamples; i++) free(samples[i]);
free(samples);
htsFile *out_fh = hts_open(args->outfname,hts_bcf_wmode(args->output_type));
bcf_hdr_write(out_fh,args->header);
bcf1_t *rec = bcf_init();
args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2);
while (1)
{
bcf_clear(rec);
args->n.total++;
if ( tsv_parse(leg_tsv, rec, line.s) )
error("Error occurred while parsing %s: %s\n", leg_fname,line.s);
if ( hts_getline(hap_fh, KS_SEP_LINE, &line)<=0 )
error("Different number of records in %s and %s?\n", leg_fname,hap_fname);
if ( tsv_parse(hap_tsv, rec, line.s) )
error("Error occurred while parsing %s: %s\n", hap_fname,line.s);
bcf_write(out_fh, args->header, rec);
if ( hts_getline(leg_fh, KS_SEP_LINE, &line)<=0 )
{
if ( hts_getline(hap_fh, KS_SEP_LINE, &line)>0 )
error("Different number of records in %s and %s?\n", leg_fname,hap_fname);
break;
}
}
if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname);
if ( hts_close(hap_fh) ) error("Close failed: %s\n", hap_fname);
if ( hts_close(leg_fh) ) error("Close failed: %s\n", leg_fname);
bcf_hdr_destroy(args->header);
bcf_destroy(rec);
free(sample_fname);
free(hap_fname);
free(leg_fname);
free(args->str.s);
free(line.s);
free(args->gts);
tsv_destroy(hap_tsv);
tsv_destroy(leg_tsv);
fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total);
}
static void hapsample_to_vcf(args_t *args)
{
/*
* Input: SHAPEIT output
*
* 20:19995888_A_G 20:19995888 19995888 A G 0 0 0 0 ...
*
* First column is expected in the form of CHROM:POS_REF_ALT
*
* Output: VCF with filled GT
*
*/
kstring_t line = {0,0,0};
char *hap_fname = NULL, *sample_fname = NULL;
sample_fname = strchr(args->infname,',');
if ( !sample_fname )
{
args->str.l = 0;
ksprintf(&args->str,"%s.hap.gz", args->infname);
hap_fname = strdup(args->str.s);
args->str.l = 0;
ksprintf(&args->str,"%s.samples", args->infname);
sample_fname = strdup(args->str.s);
}
else
{
*sample_fname = 0;
hap_fname = strdup(args->infname);
sample_fname = strdup(sample_fname+1);
}
htsFile *hap_fh = hts_open(hap_fname, "r");
if ( !hap_fh ) error("Could not read: %s\n", hap_fname);
if ( hts_getline(hap_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", hap_fname);
// Find out the chromosome name, sample names, init and print the VCF header
args->str.l = 0;
char *se = strchr(line.s,':');
if ( !se ) error("Expected CHROM:POS_REF_ALT in first column of %s\n", hap_fname);
kputsn(line.s, se-line.s, &args->str);
tsv_t *tsv = tsv_init("CHROM_POS_REF_ALT,-,POS,REF_ALT,HAPS");
tsv_register(tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt, args);
tsv_register(tsv, "POS", tsv_setter_verify_pos, NULL);
tsv_register(tsv, "REF_ALT", tsv_setter_verify_ref_alt, args);
tsv_register(tsv, "HAPS", tsv_setter_haps, args);
args->header = bcf_hdr_init("w");
bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">");
bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); // MAX_CSI_COOR
bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert");
int i, nsamples;
char **samples = hts_readlist(sample_fname, 1, &nsamples);
for (i=2; i<nsamples; i++)
{
se = samples[i]; while ( *se && !isspace(*se) ) se++;
*se = 0;
bcf_hdr_add_sample(args->header,samples[i]);
}
bcf_hdr_add_sample(args->header,NULL);
for (i=0; i<nsamples; i++) free(samples[i]);
free(samples);
htsFile *out_fh = hts_open(args->outfname,hts_bcf_wmode(args->output_type));
bcf_hdr_write(out_fh,args->header);
bcf1_t *rec = bcf_init();
nsamples -= 2;
args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2);
do
{
bcf_clear(rec);
args->n.total++;
if ( !tsv_parse(tsv, rec, line.s) )
bcf_write(out_fh, args->header, rec);
else
error("Error occurred while parsing: %s\n", line.s);
}
while ( hts_getline(hap_fh, KS_SEP_LINE, &line)>0 );
if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname);
if ( hts_close(hap_fh) ) error("Close failed: %s\n", hap_fname);
bcf_hdr_destroy(args->header);
bcf_destroy(rec);
free(sample_fname);
free(hap_fname);
free(args->str.s);
free(line.s);
free(args->gts);
tsv_destroy(tsv);
fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total);
}
static void vcf_to_gensample(args_t *args)
{
kstring_t str = {0,0,0};
kputs("%CHROM:%POS\\_%REF\\_%FIRST_ALT %CHROM:%POS\\_%REF\\_%FIRST_ALT %POS %REF %FIRST_ALT", &str);
if ( !args->tag || !strcmp(args->tag,"GT") ) kputs("%_GT_TO_PROB3",&str);
else if ( !strcmp(args->tag,"PL") ) kputs("%_PL_TO_PROB3",&str);
else error("todo: --tag %s\n", args->tag);
kputs("\n", &str);
open_vcf(args,str.s);
int ret, gen_compressed = 1, sample_compressed = 0;
char *gen_fname = NULL, *sample_fname = NULL;
str.l = 0;
kputs(args->outfname,&str);
int n_files, i;
char **files = hts_readlist(str.s, 0, &n_files);
if ( n_files==1 )
{
int l = str.l;
kputs(".samples",&str);
sample_fname = strdup(str.s);
str.l = l;
kputs(".gen.gz",&str);
gen_fname = strdup(str.s);
}
else if ( n_files==2 )
{
if (strlen(files[0]) && strcmp(files[0],".")!=0) gen_fname = strdup(files[0]);
if (strlen(files[1]) && strcmp(files[1],".")!=0) sample_fname = strdup(files[1]);
}
else
{
error("Error parsing --gensample filenames: %s\n", args->outfname);
}
for (i=0; i<n_files; i++) free(files[i]);
free(files);
if ( gen_fname && (strlen(gen_fname)<3 || strcasecmp(".gz",gen_fname+strlen(gen_fname)-3)) ) gen_compressed = 0;
if ( sample_fname && strlen(sample_fname)>3 && strcasecmp(".gz",sample_fname+strlen(sample_fname)-3)==0 ) sample_compressed = 0;
if (gen_fname) fprintf(stderr, "Gen file: %s\n", gen_fname);
if (sample_fname) fprintf(stderr, "Sample file: %s\n", sample_fname);
// write samples file
if (sample_fname) {
int i;
BGZF *sout = bgzf_open(sample_fname, sample_compressed ? "wg" : "wu");
str.l = 0;
kputs("ID_1 ID_2 missing\n0 0 0\n", &str);
ret = bgzf_write(sout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno));
for (i=0; i<bcf_hdr_nsamples(args->header); i++)
{
str.l = 0;
ksprintf(&str, "%s %s 0\n", args->header->samples[i],args->header->samples[i]);
ret = bgzf_write(sout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno));
}
if ( bgzf_close(sout)!=0 ) error("Error closing %s: %s\n", sample_fname, strerror(errno));
free(sample_fname);
}
if (!gen_fname) {
if ( str.m ) free(str.s);
return;
}
int prev_rid = -1, prev_pos = -1;
int no_alt = 0, non_biallelic = 0, filtered = 0, ndup = 0;
BGZF *gout = bgzf_open(gen_fname, gen_compressed ? "wg" : "wu");
while ( bcf_sr_next_line(args->files) )
{
bcf1_t *line = bcf_sr_get_line(args->files,0);
if ( args->filter )
{
int pass = filter_test(args->filter, line, NULL);
if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1;
if ( !pass ) { filtered++; continue; }
}
// ALT allele is required
if ( line->n_allele<2 ) { no_alt++; continue; }
// biallelic required
if ( line->n_allele>2 ) {
if (!non_biallelic)
fprintf(stderr, "Warning: non-biallelic records are skipped. Consider splitting multi-allelic records into biallelic records using 'bcftools norm -m-'.\n");
non_biallelic++;
continue;
}
// skip duplicate lines, or otherwise shapeit complains
if ( prev_rid==line->rid && prev_pos==line->pos ) { ndup++; continue; }
prev_rid = line->rid;
prev_pos = line->pos;
str.l = 0;
convert_line(args->convert, line, &str);
if ( str.l )
{
int ret = bgzf_write(gout, str.s, str.l);
if ( ret!= str.l ) error("Error writing %s: %s\n", gen_fname,strerror(errno));
}
}
fprintf(stderr, "%d records skipped: %d/%d/%d/%d no-ALT/non-biallelic/filtered/duplicated\n",
no_alt+non_biallelic+filtered+ndup, no_alt, non_biallelic, filtered, ndup);
if ( str.m ) free(str.s);
if ( bgzf_close(gout)!=0 ) error("Error closing %s: %s\n", gen_fname,strerror(errno));
free(gen_fname);
}
static void vcf_to_haplegendsample(args_t *args)
{
kstring_t str = {0,0,0};
if ( args->hap2dip )
kputs("%_GT_TO_HAP2\n", &str);
else
kputs("%_GT_TO_HAP\n", &str);
open_vcf(args,str.s);
int ret, hap_compressed = 1, legend_compressed = 1, sample_compressed = 0;
char *hap_fname = NULL, *legend_fname = NULL, *sample_fname = NULL;
str.l = 0;
kputs(args->outfname,&str);
int n_files, i;
char **files = hts_readlist(str.s, 0, &n_files);
if ( n_files==1 )
{
int l = str.l;
kputs(".samples",&str);
sample_fname = strdup(str.s);
str.l = l;
kputs(".legend.gz",&str);
legend_fname = strdup(str.s);
str.l = l;
kputs(".hap.gz",&str);
hap_fname = strdup(str.s);
}
else if ( n_files==3 )
{
if (strlen(files[0]) && strcmp(files[0],".")!=0) hap_fname = strdup(files[0]);
if (strlen(files[1]) && strcmp(files[1],".")!=0) legend_fname = strdup(files[1]);
if (strlen(files[2]) && strcmp(files[2],".")!=0) sample_fname = strdup(files[2]);
}
else
{
error("Error parsing --hapslegendsample filenames: %s\n", args->outfname);
}
for (i=0; i<n_files; i++) free(files[i]);
free(files);
if ( hap_fname && (strlen(hap_fname)<3 || strcasecmp(".gz",hap_fname+strlen(hap_fname)-3)) ) hap_compressed = 0;
if ( legend_fname && (strlen(legend_fname)<3 || strcasecmp(".gz",legend_fname+strlen(legend_fname)-3)) ) legend_compressed = 0;
if ( sample_fname && strlen(sample_fname)>3 && strcasecmp(".gz",sample_fname+strlen(sample_fname)-3)==0 ) sample_compressed = 0;
if (hap_fname) fprintf(stderr, "Haps file: %s\n", hap_fname);
if (legend_fname) fprintf(stderr, "Legend file: %s\n", legend_fname);
if (sample_fname) fprintf(stderr, "Sample file: %s\n", sample_fname);
// write samples file
if (sample_fname) {
int i;
BGZF *sout = bgzf_open(sample_fname, sample_compressed ? "wg" : "wu");
str.l = 0;
kputs("sample population group sex\n", &str);
ret = bgzf_write(sout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno));
for (i=0; i<bcf_hdr_nsamples(args->header); i++)
{
str.l = 0;
ksprintf(&str, "%s %s %s 2\n", args->header->samples[i], args->header->samples[i], args->header->samples[i]);
ret = bgzf_write(sout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno));
}
if ( bgzf_close(sout)!=0 ) error("Error closing %s: %s\n", sample_fname, strerror(errno));
free(sample_fname);
}
if (!hap_fname && !legend_fname) {
if ( str.m ) free(str.s);
return;
}
// open haps and legend outputs
BGZF *hout = hap_fname ? bgzf_open(hap_fname, hap_compressed ? "wg" : "wu") : NULL;
BGZF *lout = legend_fname ? bgzf_open(legend_fname, legend_compressed ? "wg" : "wu") : NULL;
if (legend_fname) {
str.l = 0;
kputs("id position a0 a1\n", &str);
ret = bgzf_write(lout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", legend_fname, strerror(errno));
}
int no_alt = 0, non_biallelic = 0, filtered = 0;
while ( bcf_sr_next_line(args->files) )
{
bcf1_t *line = bcf_sr_get_line(args->files,0);
if ( args->filter )
{
int pass = filter_test(args->filter, line, NULL);
if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1;
if ( !pass ) { filtered++; continue; }
}
// ALT allele is required
if ( line->n_allele<2 ) { no_alt++; continue; }
// biallelic required
if ( line->n_allele>2 ) {
if (!non_biallelic)
fprintf(stderr, "Warning: non-biallelic records are skipped. Consider splitting multi-allelic records into biallelic records using 'bcftools norm -m-'.\n");
non_biallelic++;
continue;
}
str.l = 0;
convert_line(args->convert, line, &str);
if ( !str.l ) continue;
// write haps file
if (hap_fname) {
ret = bgzf_write(hout, str.s, str.l); // write hap file
if ( ret != str.l ) error("Error writing %s: %s\n", hap_fname, strerror(errno));
}
if (legend_fname) {
str.l = 0;
if ( args->output_vcf_ids && (line->d.id[0]!='.' || line->d.id[1]!=0) )
ksprintf(&str, "%s %d %s %s\n", line->d.id, line->pos+1, line->d.allele[0], line->d.allele[1]);
else
ksprintf(&str, "%s:%d_%s_%s %d %s %s\n", bcf_seqname(args->header, line), line->pos+1, line->d.allele[0], line->d.allele[1], line->pos+1, line->d.allele[0], line->d.allele[1]);
// write legend file
ret = bgzf_write(lout, str.s, str.l);
if ( ret != str.l ) error("Error writing %s: %s\n", legend_fname, strerror(errno));
}
}
fprintf(stderr, "%d records skipped: %d/%d/%d no-ALT/non-biallelic/filtered\n", no_alt+non_biallelic+filtered, no_alt, non_biallelic, filtered);
if ( str.m ) free(str.s);
if ( hout && bgzf_close(hout)!=0 ) error("Error closing %s: %s\n", hap_fname, strerror(errno));
if ( lout && bgzf_close(lout)!=0 ) error("Error closing %s: %s\n", legend_fname, strerror(errno));
if (hap_fname) free(hap_fname);
if (legend_fname) free(legend_fname);
}
static void bcf_hdr_set_chrs(bcf_hdr_t *hdr, faidx_t *fai)
{
int i, n = faidx_nseq(fai);
for (i=0; i<n; i++)
{
const char *seq = faidx_iseq(fai,i);
int len = faidx_seq_len(fai, seq);
bcf_hdr_printf(hdr, "##contig=<ID=%s,length=%d>", seq,len);
}
}
static inline int acgt_to_5(char base)
{
if ( base=='A' ) return 0;
if ( base=='C' ) return 1;
if ( base=='G' ) return 2;
if ( base=='T' ) return 3;
return 4;
}
static inline int tsv_setter_aa1(args_t *args, char *ss, char *se, int alleles[], int *nals, int ref, int32_t *gts)
{
if ( se - ss > 2 ) return -1; // currently only SNPs
if ( ss[0]=='-' )
{
// missing GT
gts[0] = bcf_gt_missing;
gts[1] = bcf_int32_vector_end;
args->n.missing++;
return 0;
}
if ( ss[0]=='I' ) return -2; // skip insertions/deletions for now
if ( ss[0]=='D' ) return -2;
int a0 = acgt_to_5(toupper(ss[0]));
int a1 = ss[1] ? acgt_to_5(toupper(ss[1])) : a0;
if ( alleles[a0]<0 ) alleles[a0] = (*nals)++;
if ( alleles[a1]<0 ) alleles[a1] = (*nals)++;
gts[0] = bcf_gt_unphased(alleles[a0]);
gts[1] = ss[1] ? bcf_gt_unphased(alleles[a1]) : bcf_int32_vector_end;
if ( ref==a0 && ref==a1 ) args->n.hom_rr++; // hom ref: RR
else if ( ref==a0 ) args->n.het_ra++; // het: RA
else if ( ref==a1 ) args->n.het_ra++; // het: AR
else if ( a0==a1 ) args->n.hom_aa++; // hom-alt: AA
else args->n.het_aa++; // non-ref het: AA
return 0;
}
static int tsv_setter_aa(tsv_t *tsv, bcf1_t *rec, void *usr)
{
args_t *args = (args_t*) usr;
int len;
char *ref = faidx_fetch_seq(args->ref, (char*)bcf_hdr_id2name(args->header,rec->rid), rec->pos, rec->pos, &len);
if ( !ref ) error("faidx_fetch_seq failed at %s:%d\n", bcf_hdr_id2name(args->header,rec->rid), rec->pos+1);
int nals = 1, alleles[5] = { -1, -1, -1, -1, -1 }; // a,c,g,t,n
ref[0] = toupper(ref[0]);
int iref = acgt_to_5(ref[0]);
alleles[iref] = 0;
rec->n_sample = bcf_hdr_nsamples(args->header);
int i, ret;
for (i=0; i<rec->n_sample; i++)
{
if ( i>0 )
{
ret = tsv_next(tsv);
if ( ret==-1 ) error("Too few columns for %d samples at %s:%d\n", rec->n_sample,bcf_hdr_id2name(args->header,rec->rid), rec->pos+1);
}
ret = tsv_setter_aa1(args, tsv->ss, tsv->se, alleles, &nals, iref, args->gts+i*2);
if ( ret==-1 ) error("Error parsing the site %s:%d, expected two characters\n", bcf_hdr_id2name(args->header,rec->rid), rec->pos+1);
if ( ret==-2 )
{
// something else than a SNP
free(ref);
return -1;
}
}
args->str.l = 0;
kputc(ref[0], &args->str);
for (i=0; i<5; i++)
{
if ( alleles[i]>0 )
{
kputc(',', &args->str);
kputc("ACGTN"[i], &args->str);
}
}
bcf_update_alleles_str(args->header, rec, args->str.s);
if ( bcf_update_genotypes(args->header,rec,args->gts,rec->n_sample*2) ) error("Could not update the GT field\n");
free(ref);
return 0;
}
static void tsv_to_vcf(args_t *args)
{
if ( !args->ref_fname ) error("Missing the --ref option\n");
if ( !args->sample_list ) error("Missing the --samples option\n");
args->ref = fai_load(args->ref_fname);
if ( !args->ref ) error("Could not load the reference %s\n", args->ref_fname);
args->header = bcf_hdr_init("w");
bcf_hdr_set_chrs(args->header, args->ref);
bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">");
bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert");
int i, n;
char **smpls = hts_readlist(args->sample_list, args->sample_is_file, &n);
if ( !smpls ) error("Could not parse %s\n", args->sample_list);
for (i=0; i<n; i++)
{
bcf_hdr_add_sample(args->header, smpls[i]);
free(smpls[i]);
}
free(smpls);
bcf_hdr_add_sample(args->header, NULL);
args->gts = (int32_t *) malloc(sizeof(int32_t)*n*2);
htsFile *out_fh = hts_open(args->outfname,hts_bcf_wmode(args->output_type));
bcf_hdr_write(out_fh,args->header);
tsv_t *tsv = tsv_init(args->columns ? args->columns : "ID,CHROM,POS,AA");
if ( tsv_register(tsv, "CHROM", tsv_setter_chrom, args->header) < 0 ) error("Expected CHROM column\n");
if ( tsv_register(tsv, "POS", tsv_setter_pos, NULL) < 0 ) error("Expected POS column\n");
if ( tsv_register(tsv, "ID", tsv_setter_id, args->header) < 0 ) error("Expected ID column\n");
if ( tsv_register(tsv, "AA", tsv_setter_aa, args) < 0 ) error("Expected AA column\n");
bcf1_t *rec = bcf_init();
bcf_float_set_missing(rec->qual);
kstring_t line = {0,0,0};
htsFile *in_fh = hts_open(args->infname, "r");
if ( !in_fh ) error("Could not read: %s\n", args->infname);
while ( hts_getline(in_fh, KS_SEP_LINE, &line) > 0 )
{
if ( line.s[0]=='#' ) continue; // skip comments
bcf_clear(rec);
args->n.total++;
if ( !tsv_parse(tsv, rec, line.s) )
bcf_write(out_fh, args->header, rec);
else
args->n.skipped++;
}
if ( hts_close(in_fh) ) error("Close failed: %s\n", args->infname);
free(line.s);
fai_destroy(args->ref);
bcf_hdr_destroy(args->header);
hts_close(out_fh);
tsv_destroy(tsv);
bcf_destroy(rec);
free(args->str.s);
free(args->gts);