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vcfmerge.c
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/* vcfmerge.c -- Merge multiple VCF/BCF files to create one multi-sample file.
Copyright (C) 2012-2025 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 <string.h>
#include <strings.h>
#include <assert.h>
#include <errno.h>
#include <unistd.h>
#include <getopt.h>
#include <inttypes.h>
#include <htslib/vcf.h>
#include <htslib/synced_bcf_reader.h>
#include <htslib/vcfutils.h>
#include <htslib/faidx.h>
#include <htslib/kbitset.h>
#include <htslib/hts_endian.h>
#include <math.h>
#include <ctype.h>
#include <time.h>
#include "bcftools.h"
#include "regidx.h"
#include "vcmp.h"
#define DBG 0
#define COLLAPSE_SNP_INS_DEL (1<<10)
#include <htslib/khash.h>
KHASH_MAP_INIT_STR(strdict, int)
typedef khash_t(strdict) strdict_t;
#define FLT_LOGIC_ADD 0
#define FLT_LOGIC_REMOVE 1
#define SKIP_DONE 1 // the record was processed
#define SKIP_DIFF 2 // not compatible, merge later
#define IS_VL_G(hdr,id) (bcf_hdr_id2length(hdr,BCF_HL_FMT,id) == BCF_VL_G)
#define IS_VL_A(hdr,id) (bcf_hdr_id2length(hdr,BCF_HL_FMT,id) == BCF_VL_A)
#define IS_VL_R(hdr,id) (bcf_hdr_id2length(hdr,BCF_HL_FMT,id) == BCF_VL_R)
#define SWAP(type_t,a,b) { type_t tmp = (a); (a) = (b); (b) = tmp; }
#define PL2PROB_MAX 1024
// Rules for merging FORMAT Number=A,G,R vectors with missing values
#define MERGE_MISSING_DOT 0 // leave as is, i.e. use a missing value "."
#define MERGE_MISSING_CONST 1 // use a constant value
#define MERGE_MISSING_MAX 2 // use the existing maximum value
typedef struct _missing_rule_t
{
char *hdr_tag;
int type;
float value;
}
missing_rule_t;
// For merging INFO Number=A,G,R tags
typedef struct
{
const char *hdr_tag;
int type, nvals;
int nbuf, mbuf;
uint8_t *buf;
}
AGR_info_t;
// Rules for merging arbitrary INFO tags
typedef struct _info_rule_t
{
char *hdr_tag;
void (*merger)(bcf_hdr_t *hdr, bcf1_t *line, struct _info_rule_t *rule);
int type; // one of BCF_HT_*
int block_size; // number of values in a block
int type_size; // size of the corresponding BCF_HT_* type
int nblocks; // number of blocks in nvals (the number of merged files)
int nvals, mvals; // used and total size of vals array
void *vals; // the info tag values
}
info_rule_t;
typedef struct
{
bcf1_t *line;
int end, active; // end: 0-based INFO/END
}
gvcf_aux_t;
// Auxiliary merge data for selecting the right combination
// of buffered records across multiple readers. maux1_t
// corresponds to one buffered line.
typedef struct
{
int skip;
int *map; // mapping from input alleles to the array of output alleles (set by merge_alleles)
int mmap; // size of map array (only buffer[i].n_allele is actually used)
int als_differ;
int var_types; // variant types in this record, shifted by <<1 to account for VCF_REF
}
maux1_t;
// Buffered lines for a single reader
typedef struct
{
int rid; // current rid
int beg,end; // valid ranges in reader's buffer [beg,end). Maintained by maux_reset and gvcf_flush.
int unkn_allele;// the index of the unknown allele (<*>, <NON_REF>)
int cur; // current line or -1 if none
int mrec; // allocated size of buf
maux1_t *rec; // buffer to keep reader's lines
bcf1_t **lines; // source buffer: either gvcf or readers' buffer
bcf_hdr_t *hdr; // this reader's header
int var_types; // reader's variant types in the active [beg,end] window
}
buffer_t;
typedef struct
{
int n, pos, var_types; // number of readers; current position; variant types at this position across all available records
int *als_types, // allele type of each output allele
mals_types;
char *chr; // current chromosome
char **als, **out_als; // merged alleles (temp, may contain empty records) and merged alleles ready for output
int nals, mals, nout_als, mout_als; // size of the output array
int *cnt, ncnt; // number of records that refer to the alleles
int *smpl_ploidy, *smpl_nGsize; // ploidy and derived number of values in Number=G tags, updated for each line (todo: cache for missing cases)
const char **fmt_key;// temporary short-lived array to store output tag names
bcf_fmt_t **fmt_map; // i-th output FORMAT field corresponds in j-th reader to i*nreader+j, first row is reserved for GT
int nfmt_map; // number of rows in the fmt_map array
int *agr_map, nagr_map, magr_map; // mapping between Number=AGR element indexes, from src idxs to dst file idxs
void *tmp_arr;
size_t ntmp_arr;
buffer_t *buf;
AGR_info_t *AGR_info;
int nAGR_info, mAGR_info;
bcf_srs_t *files;
int gvcf_min, // min buffered gvcf END position (NB: gvcf_min is 1-based) or 0 if no active lines are present
gvcf_break; // 0-based position of a next record which breaks a gVCF block
gvcf_aux_t *gvcf; // buffer of gVCF lines, for each reader one line
int nout_smpl;
kstring_t *str;
int32_t *laa; // localized alternate alleles given as input-based indexes in per-sample blocks of (args->local_alleles+1) values, 0 is always first
int nlaa, laa_dirty; // number of LAA alleles actually used at this site, and was any L* added?
int32_t *tmpi, *k2k;
double *tmpd, *pl2prob; // mapping from phred-score likelihoods (PL) to probability
int ntmpi, ntmpd, nk2k;
}
maux_t;
typedef struct
{
vcmp_t *vcmp;
maux_t *maux;
regidx_t *regs; // apply regions only after the blocks are expanded
regitr_t *regs_itr;
int header_only, collapse, output_type, force_samples, force_single, merge_by_id, do_gvcf, filter_logic, missing_to_ref, no_index;
char *header_fname, *output_fname, *regions_list, *info_rules, *file_list;
faidx_t *gvcf_fai;
info_rule_t *rules;
int nrules;
char *missing_rules_str;
missing_rule_t *missing_rules; // lookup for -M, --missing-rules
int nmissing_rules;
strdict_t *tmph;
kstring_t tmps;
bcf_srs_t *files;
bcf1_t *out_line;
htsFile *out_fh;
bcf_hdr_t *out_hdr;
char **argv;
int argc, n_threads, record_cmd_line, clevel;
int local_alleles; // the value of -L option
int keep_AC_AN;
char *index_fn;
int write_index;
int trim_star_allele; // 0=don't trim; 1=trim at variant sites; 2=trim at all sites
}
args_t;
static bcf1_t *maux_get_line(args_t *args, int i)
{
maux_t *ma = args->maux;
int ibuf = ma->buf[i].cur;
if ( ibuf >= 0 ) return ma->buf[i].lines[ibuf];
return NULL;
}
static void info_rules_merge_sum(bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule)
{
if ( !rule->nvals ) return;
int i, j, ndim = rule->block_size;
#define BRANCH(type_t,is_missing) { \
type_t *ptr = (type_t*) rule->vals; \
for (i=0; i<rule->nvals; i++) if ( is_missing ) ptr[i] = 0; \
for (i=1; i<rule->nblocks; i++) \
{ \
for (j=0; j<ndim; j++) ptr[j] += ptr[j+i*ndim]; \
} \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int32_t, ptr[i]==bcf_int32_missing); break;
case BCF_HT_REAL: BRANCH(float, bcf_float_is_missing(ptr[i])); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
bcf_update_info(hdr,line,rule->hdr_tag,rule->vals,ndim,rule->type);
}
static void info_rules_merge_avg(bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule)
{
if ( !rule->nvals ) return;
int i, j, ndim = rule->block_size;
#define BRANCH(type_t,is_missing) { \
type_t *ptr = (type_t*) rule->vals; \
for (i=0; i<rule->nvals; i++) if ( is_missing ) ptr[i] = 0; \
for (j=0; j<ndim; j++) \
{ \
double sum = 0; \
for (i=0; i<rule->nblocks; i++) sum += ptr[j+i*ndim]; \
ptr[j] = sum / rule->nblocks; \
} \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int32_t, ptr[i]==bcf_int32_missing); break;
case BCF_HT_REAL: BRANCH(float, bcf_float_is_missing(ptr[i])); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
bcf_update_info(hdr,line,rule->hdr_tag,rule->vals,ndim,rule->type);
}
static void info_rules_merge_min(bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule)
{
if ( !rule->nvals ) return;
int i, j, ndim = rule->block_size;
#define BRANCH(type_t,is_missing,set_missing,huge_val) { \
type_t *ptr = (type_t*) rule->vals; \
for (i=0; i<rule->nvals; i++) if ( is_missing ) ptr[i] = huge_val; \
for (i=1; i<rule->nblocks; i++) \
{ \
for (j=0; j<ndim; j++) if ( ptr[j] > ptr[j+i*ndim] ) ptr[j] = ptr[j+i*ndim]; \
} \
for (i=0; i<rule->nvals; i++) if ( ptr[i]==huge_val ) set_missing; \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int32_t, ptr[i]==bcf_int32_missing, ptr[i]=bcf_int32_missing, INT32_MAX); break;
case BCF_HT_REAL: BRANCH(float, bcf_float_is_missing(ptr[i]), bcf_float_set_missing(ptr[i]), HUGE_VAL); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
bcf_update_info(hdr,line,rule->hdr_tag,rule->vals,ndim,rule->type);
}
static void info_rules_merge_max(bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule)
{
if ( !rule->nvals ) return;
int i, j, ndim = rule->block_size;
#define BRANCH(type_t,is_missing,set_missing,huge_val) { \
type_t *ptr = (type_t*) rule->vals; \
for (i=0; i<rule->nvals; i++) if ( is_missing ) ptr[i] = huge_val; \
for (i=1; i<rule->nblocks; i++) \
{ \
for (j=0; j<ndim; j++) if ( ptr[j] < ptr[j+i*ndim] ) ptr[j] = ptr[j+i*ndim]; \
} \
for (i=0; i<rule->nvals; i++) if ( ptr[i]==huge_val ) set_missing; \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int32_t, ptr[i]==bcf_int32_missing, ptr[i]=bcf_int32_missing, INT32_MIN); break;
case BCF_HT_REAL: BRANCH(float, bcf_float_is_missing(ptr[i]), bcf_float_set_missing(ptr[i]), -HUGE_VAL); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
bcf_update_info(hdr,line,rule->hdr_tag,rule->vals,ndim,rule->type);
}
static void info_rules_merge_join(bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule)
{
if ( !rule->nvals ) return;
if ( rule->type==BCF_HT_STR )
{
((char*)rule->vals)[rule->nvals] = 0;
bcf_update_info_string(hdr,line,rule->hdr_tag,rule->vals);
}
else
{
int isrc, idst = 0;
#define BRANCH(type_t,is_missing,is_vector_end) { \
type_t *ptr = (type_t*) rule->vals; \
for (isrc=0; isrc<rule->nvals; isrc++) \
{ \
if ( is_vector_end ) break; \
if ( is_missing ) continue; \
if ( idst!=isrc ) ptr[idst] = ptr[isrc]; \
idst++; \
} \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int32_t, ptr[isrc]==bcf_int32_missing, ptr[isrc]==bcf_int32_vector_end); break;
case BCF_HT_REAL: BRANCH(float, bcf_float_is_missing(ptr[isrc]), bcf_float_is_vector_end(ptr[isrc])); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
rule->nvals = idst;
bcf_update_info(hdr,line,rule->hdr_tag,rule->vals,rule->nvals,rule->type);
}
}
static int missing_rules_comp_key2(const void *a, const void *b)
{
missing_rule_t *rule1 = (missing_rule_t*) a;
missing_rule_t *rule2 = (missing_rule_t*) b;
return strcmp(rule1->hdr_tag, rule2->hdr_tag);
}
static int missing_rules_comp_key(const void *a, const void *b)
{
char *key = (char*) a;
missing_rule_t *rule = (missing_rule_t*) b;
return strcmp(key, rule->hdr_tag);
}
static void missing_rules_init(args_t *args)
{
kstring_t str = {0,0,0};
if ( args->missing_rules_str )
{
if ( !strcmp("-",args->missing_rules_str) ) kputs("PL:.,AD:.",&str);
else kputs(args->missing_rules_str,&str);
}
else if ( args->do_gvcf ) kputs("PL:max,AD:0",&str);
else return;
args->nmissing_rules = 1;
char *ss = str.s, *tmp = ss;
int n = 0;
while ( *ss )
{
if ( *ss==':' ) { *ss = 0; n++; if ( n%2==0 ) error("Could not parse --missing-rules: \"%s\"\n", args->missing_rules_str); }
else if ( *ss==',' ) { *ss = 0; args->nmissing_rules++; n++; if ( n%2==1 ) error("Could not parse --missing-rules: \"%s\"\n", args->missing_rules_str); }
ss++;
}
if ( n%2==0 ) error("Could not parse --missing-rules: \"%s\"\n", args->missing_rules_str);
args->missing_rules = (missing_rule_t*) calloc(args->nmissing_rules,sizeof(missing_rule_t));
n = args->nmissing_rules;
args->nmissing_rules = 0;
ss = tmp;
while ( args->nmissing_rules < n )
{
missing_rule_t *rule = &args->missing_rules[args->nmissing_rules];
rule->hdr_tag = strdup(ss);
int id = bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, rule->hdr_tag);
if ( !bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_FMT,id) )
{
if ( args->missing_rules_str ) error("The FORMAT tag is not defined in the header: \"%s\"\n", rule->hdr_tag);
free(rule->hdr_tag);
n--;
ss = strchr(ss, '\0'); ss++;
if ( !*ss ) error("Could not parse --missing-rules, missing logic of \"%s\"\n", rule->hdr_tag);
ss = strchr(ss, '\0'); ss++;
continue;
}
ss = strchr(ss, '\0'); ss++;
if ( !*ss ) error("Could not parse --missing-rules, missing logic of \"%s\"\n", rule->hdr_tag);
if ( !strcasecmp(ss,".") ) rule->type = MERGE_MISSING_DOT;
else if ( !strcasecmp(ss,"max") ) rule->type = MERGE_MISSING_MAX;
else
{
char *tmp = ss;
rule->value = strtod(ss, &tmp);
if ( *tmp ) error("Could not parse --missing-rules: \"%s\"\n", args->missing_rules_str);
rule->type = MERGE_MISSING_CONST;
}
ss = strchr(ss, '\0'); ss++;
args->nmissing_rules++;
}
qsort(args->missing_rules, args->nmissing_rules, sizeof(*args->missing_rules), missing_rules_comp_key2);
free(str.s);
}
static void missing_rules_destroy(args_t *args)
{
int i;
for (i=0; i<args->nmissing_rules; i++)
{
missing_rule_t *rule = &args->missing_rules[i];
free(rule->hdr_tag);
}
free(args->missing_rules);
}
static int info_rules_comp_key2(const void *a, const void *b)
{
info_rule_t *rule1 = (info_rule_t*) a;
info_rule_t *rule2 = (info_rule_t*) b;
return strcmp(rule1->hdr_tag, rule2->hdr_tag);
}
static int info_rules_comp_key(const void *a, const void *b)
{
char *key = (char*) a;
info_rule_t *rule = (info_rule_t*) b;
return strcmp(key, rule->hdr_tag);
}
static void info_rules_init(args_t *args)
{
if ( args->info_rules && !strcmp("-",args->info_rules) ) return;
kstring_t str = {0,0,0};
if ( !args->info_rules )
{
if ( bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "DP")) ) kputs("DP:sum",&str);
if ( bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "DP4")) )
{
if ( str.l ) kputc(',',&str);
kputs("DP4:sum",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "QS")) )
{
if ( str.l ) kputc(',',&str);
kputs("QS:sum",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "MIN_DP")) )
{
if ( str.l ) kputc(',',&str);
kputs("MIN_DP:min",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "MinDP")) )
{
if ( str.l ) kputc(',',&str);
kputs("MinDP:min",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "I16")) )
{
if ( str.l ) kputc(',',&str);
kputs("I16:sum",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "IDV")) )
{
if ( str.l ) kputc(',',&str);
kputs("IDV:max",&str);
}
if ( args->do_gvcf && bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "IMF")) )
{
if ( str.l ) kputc(',',&str);
kputs("IMF:max",&str);
}
if ( !bcf_hdr_nsamples(args->out_hdr) )
{
if ( bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "AN")) )
{
if ( str.l ) kputc(',',&str);
kputs("AN:sum",&str);
}
if ( bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, "AC")) )
{
if ( str.l ) kputc(',',&str);
kputs("AC:sum",&str);
}
}
if ( !str.l ) return;
args->info_rules = str.s;
}
args->nrules = 1;
char *ss = strdup(args->info_rules), *tmp = ss;
int n = 0;
while ( *ss )
{
if ( *ss==':' ) { *ss = 0; n++; if ( n%2==0 ) error("Could not parse INFO rules: \"%s\"\n", args->info_rules); }
else if ( *ss==',' ) { *ss = 0; args->nrules++; n++; if ( n%2==1 ) error("Could not parse INFO rules: \"%s\"\n", args->info_rules); }
ss++;
}
if ( n%2==0 ) error("Could not parse INFO rules: \"%s\"\n", args->info_rules);
args->rules = (info_rule_t*) calloc(args->nrules,sizeof(info_rule_t));
n = 0;
ss = tmp;
while ( n < args->nrules )
{
info_rule_t *rule = &args->rules[n];
rule->hdr_tag = strdup(ss);
int id = bcf_hdr_id2int(args->out_hdr, BCF_DT_ID, rule->hdr_tag);
if ( !bcf_hdr_idinfo_exists(args->out_hdr,BCF_HL_INFO,id) ) error("The INFO tag is not defined in the header: \"%s\"\n", rule->hdr_tag);
rule->type = bcf_hdr_id2type(args->out_hdr,BCF_HL_INFO,id);
if ( rule->type==BCF_HT_INT ) rule->type_size = sizeof(int32_t);
else if ( rule->type==BCF_HT_REAL ) rule->type_size = sizeof(float);
else if ( rule->type==BCF_HT_STR ) rule->type_size = sizeof(char);
else error("The INFO rule \"%s\" is not supported; the tag \"%s\" type is %d\n", ss,rule->hdr_tag,rule->type);
if ( !strcmp(rule->hdr_tag,"AC") || !strcmp(rule->hdr_tag,"AN") ) args->keep_AC_AN = 1;
ss = strchr(ss, '\0'); ss++;
if ( !*ss ) error("Could not parse INFO rules, missing logic of \"%s\"\n", rule->hdr_tag);
int is_join = 0;
if ( !strcasecmp(ss,"sum") ) rule->merger = info_rules_merge_sum;
else if ( !strcasecmp(ss,"avg") ) rule->merger = info_rules_merge_avg;
else if ( !strcasecmp(ss,"min") ) rule->merger = info_rules_merge_min;
else if ( !strcasecmp(ss,"max") ) rule->merger = info_rules_merge_max;
else if ( !strcasecmp(ss,"join") ) { rule->merger = info_rules_merge_join; is_join = 1; }
else error("The rule logic \"%s\" not recognised\n", ss);
if ( !is_join && rule->type==BCF_HT_STR )
error("Numeric operation \"%s\" requested on non-numeric field: %s\n", ss, rule->hdr_tag);
if ( bcf_hdr_id2number(args->out_hdr,BCF_HL_INFO,id)==0xfffff )
{
int is_agr = (
bcf_hdr_id2length(args->out_hdr,BCF_HL_INFO,id)==BCF_VL_A ||
bcf_hdr_id2length(args->out_hdr,BCF_HL_INFO,id)==BCF_VL_G ||
bcf_hdr_id2length(args->out_hdr,BCF_HL_INFO,id)==BCF_VL_R
) ? 1 : 0;
if ( is_join && bcf_hdr_id2length(args->out_hdr,BCF_HL_INFO,id)!=BCF_VL_VAR )
{
bcf_hrec_t *hrec = bcf_hdr_get_hrec(args->out_hdr, BCF_HL_INFO, "ID", rule->hdr_tag, NULL);
hrec = bcf_hrec_dup(hrec);
int i = bcf_hrec_find_key(hrec, "Number");
if ( i<0 ) error("Uh, could not find the entry Number in the header record of %s\n",rule->hdr_tag);
free(hrec->vals[i]);
hrec->vals[i] = strdup(".");
bcf_hdr_remove(args->out_hdr,BCF_HL_INFO, rule->hdr_tag);
bcf_hdr_add_hrec(args->out_hdr, hrec);
}
if ( !is_join && !is_agr )
error("Only fixed-length vectors are supported with -i %s:%s\n", ss, rule->hdr_tag);
}
ss = strchr(ss, '\0'); ss++;
n++;
}
free(str.s);
free(tmp);
qsort(args->rules, args->nrules, sizeof(*args->rules), info_rules_comp_key2);
}
static void info_rules_destroy(args_t *args)
{
int i;
for (i=0; i<args->nrules; i++)
{
info_rule_t *rule = &args->rules[i];
free(rule->hdr_tag);
free(rule->vals);
}
free(args->rules);
}
static void info_rules_reset(args_t *args)
{
int i;
for (i=0; i<args->nrules; i++)
args->rules[i].nblocks = args->rules[i].nvals = args->rules[i].block_size = 0;
}
static int info_rules_add_values(args_t *args, bcf_hdr_t *hdr, bcf1_t *line, info_rule_t *rule, maux1_t *als, int var_len)
{
int msize = args->maux->ntmp_arr / rule->type_size;
int ret = bcf_get_info_values(hdr, line, rule->hdr_tag, &args->maux->tmp_arr, &msize, rule->type);
if ( ret<=0 ) error("FIXME: error parsing %s at %s:%"PRId64" .. %d\n", rule->hdr_tag,bcf_seqname(hdr,line),(int64_t) line->pos+1,ret);
args->maux->ntmp_arr = msize * rule->type_size;
rule->nblocks++;
if ( rule->type==BCF_HT_STR )
{
int need_comma = rule->nblocks==1 ? 0 : 1;
hts_expand(char,rule->nvals+ret+need_comma+1,rule->mvals,rule->vals); // 1 for null-termination
char *tmp = (char*) rule->vals + rule->nvals;
if ( rule->nvals>0 ) { *tmp = ','; tmp++; }
strncpy(tmp,(char*)args->maux->tmp_arr,ret);
rule->nvals += ret + need_comma;
return 1;
}
int i, j;
if ( var_len==BCF_VL_A )
{
if ( ret!=line->n_allele-1 ) error("Wrong number of %s fields at %s:%"PRId64"\n",rule->hdr_tag,bcf_seqname(hdr,line),(int64_t) line->pos+1);
args->maux->nagr_map = ret;
hts_expand(int,args->maux->nagr_map,args->maux->magr_map,args->maux->agr_map);
// create mapping from source file ALT indexes to dst file indexes
for (i=0; i<ret; i++) args->maux->agr_map[i] = als->map[i+1] - 1;
rule->block_size = args->maux->nout_als - 1;
}
else if ( var_len==BCF_VL_R )
{
if ( ret!=line->n_allele ) error("Wrong number of %s fields at %s:%"PRId64"\n",rule->hdr_tag,bcf_seqname(hdr,line),(int64_t) line->pos+1);
args->maux->nagr_map = ret;
hts_expand(int,args->maux->nagr_map,args->maux->magr_map,args->maux->agr_map);
for (i=0; i<ret; i++) args->maux->agr_map[i] = als->map[i];
rule->block_size = args->maux->nout_als;
}
else if ( var_len==BCF_VL_G )
{
args->maux->nagr_map = bcf_alleles2gt(line->n_allele-1,line->n_allele-1)+1;
if ( ret!=line->n_allele && ret!=args->maux->nagr_map ) error("Wrong number of %s fields at %s:%"PRId64"\n",rule->hdr_tag,bcf_seqname(hdr,line),(int64_t) line->pos+1);
if ( ret==line->n_allele ) // haploid
{
args->maux->nagr_map = line->n_allele;
hts_expand(int,args->maux->nagr_map,args->maux->magr_map,args->maux->agr_map);
for (i=0; i<ret; i++) args->maux->agr_map[i] = als->map[i];
rule->block_size = args->maux->nout_als;
}
else
{
hts_expand(int,args->maux->nagr_map,args->maux->magr_map,args->maux->agr_map);
int k_src = 0;
for (i=0; i<line->n_allele; i++)
{
for (j=0; j<=i; j++)
{
args->maux->agr_map[k_src] = bcf_alleles2gt(als->map[i],als->map[j]);
k_src++;
}
}
rule->block_size = bcf_alleles2gt(args->maux->nout_als-1,args->maux->nout_als-1)+1;
}
}
else
{
if ( rule->nblocks>1 && ret!=rule->block_size )
error("Mismatch in number of values for INFO/%s at %s:%"PRId64"\n", rule->hdr_tag,bcf_seqname(hdr,line),(int64_t) line->pos+1);
rule->block_size = ret;
args->maux->nagr_map = 0;
}
#define BRANCH(src_type_t,dst_type_t,set_missing) { \
src_type_t *src = (src_type_t *) args->maux->tmp_arr; \
hts_expand0(dst_type_t,(rule->nvals+rule->block_size),rule->mvals,rule->vals); \
dst_type_t *dst = (dst_type_t *) rule->vals + rule->nvals; \
rule->nvals += rule->block_size; \
if ( !args->maux->nagr_map ) \
{ \
for (i=0; i<ret; i++) dst[i] = src[i]; \
} \
else \
{ \
for (i=0; i<rule->block_size; i++) set_missing; \
for (i=0; i<ret; i++) dst[args->maux->agr_map[i]] = src[i]; \
} \
}
switch (rule->type) {
case BCF_HT_INT: BRANCH(int, int32_t, dst[i] = bcf_int32_missing); break;
case BCF_HT_REAL: BRANCH(float, float, bcf_float_set_missing(dst[i])); break;
default: error("TODO: %s:%d .. type=%d\n", __FILE__,__LINE__, rule->type);
}
#undef BRANCH
return 1;
}
int bcf_hdr_sync(bcf_hdr_t *h);
void merge_headers(bcf_hdr_t *hw, const bcf_hdr_t *hr, const char *clash_prefix, int force_samples)
{
// header lines
hw = bcf_hdr_merge(hw, hr);
// samples
int i;
for (i=0; i<bcf_hdr_nsamples(hr); i++)
{
char *rmme = NULL, *name = hr->samples[i];
while ( bcf_hdr_id2int(hw, BCF_DT_SAMPLE, name)!=-1 )
{
// there is a sample with the same name
if ( !force_samples ) error("Error: Duplicate sample names (%s), use --force-samples to proceed anyway.\n", name);
// Resolve conflicting samples names. For example, replace:
// A + A with A,2:A
// A,2:A + A with A,2:A,2:2:A
int len = strlen(name) + strlen(clash_prefix) + 1;
char *tmp = (char*) malloc(sizeof(char)*(len+1));
sprintf(tmp,"%s:%s",clash_prefix,name);
free(rmme);
rmme = name = tmp;
}
bcf_hdr_add_sample(hw,name);
free(rmme);
}
}
void debug_als(char **als, int nals)
{
int k; for (k=0; k<nals; k++) fprintf(stderr,"%s ", als[k]);
fprintf(stderr,"\n");
}
/**
* normalize_alleles() - create smallest possible representation of the alleles
* @als: alleles to be merged, first is REF (rw)
* @nals: number of $a alleles
*
* Best explained on an example:
* In: REF=GTTT ALT=GTT
* Out: REF=GT ALT=G
*
* Note: the als array will be modified
*/
void normalize_alleles(char **als, int nals)
{
if ( !als[0][1] ) return; // ref is 1base long, we're done
int j, i = 1, done = 0;
int *lens = (int*) malloc(sizeof(int)*nals);
for (j=0; j<nals; j++) lens[j] = strlen(als[j]);
while ( i<lens[0] )
{
for (j=1; j<nals; j++)
{
if ( i>=lens[j] ) done = 1;
if ( als[j][lens[j]-i] != als[0][lens[0]-i] ) { done = 1; break; }
}
if ( done ) break;
i++;
}
if ( i>1 )
{
i--;
als[0][lens[0]-i] = 0;
for (j=1; j<nals; j++) als[j][lens[j]-i] = 0;
}
free(lens);
}
/**
* merge_alleles() - merge two REF,ALT records, $a and $b into $b.
* @a: alleles to be merged, first is REF
* @na: number of $a alleles
* @map: map from the original $a indexes to new $b indexes (0-based)
* @b: alleles to be merged, the array will be expanded as required
* @nb: number of $b alleles
* @mb: size of $b
*
* Returns NULL on error or $b expanded to incorporate $a alleles and sets
* $map. Best explained on an example:
* In: REF ALT
* a: ACG, AC,A (1bp and 2bp deletion)
* b: ACGT, A (3bp deletion)
* Out:
* b: ACGT, A,ACT,AT (3bp, 1bp and 2bp deletion)
* map: 0,2,3
* Here the mapping from the original $a alleles to the new $b alleles is 0->0,
* 1->2, and 2->3.
*/
char **merge_alleles(char **a, int na, int *map, char **b, int *nb, int *mb)
{
// reference allele never changes
map[0] = 0;
int i,j;
int rla = !a[0][1] ? 1 : strlen(a[0]);
int rlb = !b[0][1] ? 1 : strlen(b[0]);
// the most common case: same SNPs
if ( na==2 && *nb==2 && rla==1 && rlb==1 && a[1][0]==b[1][0] && !a[1][1] && !b[1][1] )
{
map[1] = 1;
return b;
}
// Sanity check: reference prefixes must be identical
if ( strncmp(a[0],b[0],rla<rlb?rla:rlb) )
{
if ( strncasecmp(a[0],b[0],rla<rlb?rla:rlb) )
{
fprintf(stderr, "The REF prefixes differ: %s vs %s (%d,%d)\n", a[0],b[0],rla,rlb);
return NULL;
}
// Different case, change to uppercase
for (i=0; i<na; i++)
{
int len = strlen(a[i]);
for (j=0; j<len; j++) a[i][j] = toupper(a[i][j]);
}
for (i=0; i<*nb; i++)
{
int len = strlen(b[i]);
for (j=0; j<len; j++) b[i][j] = toupper(b[i][j]);
}
}
int n = *nb + na;
hts_expand0(char*,n,*mb,b);
// $b alleles need expanding
if ( rla>rlb )
{
for (i=0; i<*nb; i++)
{
if ( b[i][0]=='<' ) continue; // symbolic allele, do not modify
if ( b[i][0]=='*' ) continue; // overlapping deletion (*), do not modify
int l = strlen(b[i]);
b[i] = (char*) realloc(b[i],l+rla-rlb+1);
memcpy(b[i]+l,a[0]+rlb,rla-rlb+1);
}
}
// now check if the $a alleles are present and if not add them
for (i=1; i<na; i++)
{
int const_ai = 1;
char *ai;
if ( rlb>rla && a[i][0]!='<' && a[i][0]!='*' ) // $a alleles need expanding and not a symbolic allele or *
{
int l = strlen(a[i]);
ai = (char*) malloc(l+rlb-rla+1);
memcpy(ai,a[i],l);
memcpy(ai+l,b[0]+rla,rlb-rla+1);
const_ai = 0;
}
else
ai = a[i];
for (j=1; j<*nb; j++)
if ( !strcasecmp(ai,b[j]) ) break;
if ( j<*nb ) // $b already has the same allele
{
map[i] = j;
if ( !const_ai ) free(ai);
continue;
}
// new allele
map[i] = *nb;
b[*nb] = const_ai ? strdup(ai) : ai;
(*nb)++;
}
return b;
}
maux_t *maux_init(args_t *args)
{
bcf_srs_t *files = args->files;
maux_t *ma = (maux_t*) calloc(1,sizeof(maux_t));
ma->n = files->nreaders;
ma->files = files;
int i, n_smpl = 0;
for (i=0; i<ma->n; i++)
n_smpl += bcf_hdr_nsamples(files->readers[i].header);
ma->nout_smpl = n_smpl;
assert( n_smpl==bcf_hdr_nsamples(args->out_hdr) );
if ( args->do_gvcf )
{
ma->gvcf = (gvcf_aux_t*) calloc(ma->n,sizeof(gvcf_aux_t)); // -Walloc-size-larger-than gives a harmless warning caused by signed integer ma->n
for (i=0; i<ma->n; i++)
ma->gvcf[i].line = bcf_init1();
}
ma->smpl_ploidy = (int*) calloc(n_smpl,sizeof(int));
ma->smpl_nGsize = (int*) malloc(n_smpl*sizeof(int));
ma->buf = (buffer_t*) calloc(ma->n,sizeof(buffer_t));
for (i=0; i<ma->n; i++)
{
ma->buf[i].rid = -1;
ma->buf[i].hdr = files->readers[i].header;
}
ma->str = (kstring_t*) calloc(n_smpl,sizeof(kstring_t));
if ( args->local_alleles )
{
ma->laa = (int32_t*)malloc(sizeof(*ma->laa)*ma->nout_smpl*(1+args->local_alleles));
ma->pl2prob = (double*)malloc(PL2PROB_MAX*sizeof(*ma->pl2prob));
for (i=0; i<PL2PROB_MAX; i++)
ma->pl2prob[i] = pow(10,-0.1*i);
}
return ma;
}
void maux_destroy(maux_t *ma)
{
int i,j;
for (i=0; i<ma->nout_smpl; i++) free(ma->str[i].s);
free(ma->str);
free(ma->als_types);
for (i=0; i<ma->mals; i++)
{
free(ma->als[i]);
ma->als[i] = NULL;
}
for (i=0; i<ma->n; i++) // for each reader
{
for (j=0; j<ma->buf[i].mrec; j++) // for each buffered line
free(ma->buf[i].rec[j].map);
free(ma->buf[i].rec);
}
free(ma->buf);
if ( ma->gvcf )
{
for (i=0; i<ma->n; i++) bcf_destroy(ma->gvcf[i].line);
free(ma->gvcf);
}
for (i=0; i<ma->mAGR_info; i++)
free(ma->AGR_info[i].buf);
free(ma->agr_map);
free(ma->AGR_info);
if (ma->ntmp_arr) free(ma->tmp_arr);
if (ma->nfmt_map) free(ma->fmt_map);
free(ma->fmt_key);
// ma->inf freed in bcf_destroy1
for (i=0; i<ma->mals; i++) free(ma->als[i]);
if (ma->mout_als) free(ma->out_als);
free(ma->als);
free(ma->cnt);
free(ma->smpl_ploidy);
free(ma->smpl_nGsize);
free(ma->chr);
free(ma->laa);
free(ma->tmpi);
free(ma->k2k);
free(ma->tmpd);
free(ma->pl2prob);
free(ma);
}
void maux_expand1(buffer_t *buf, int size)
{
if ( buf->mrec < size )
{
hts_expand0(maux1_t,size,buf->mrec,buf->rec);
buf->mrec = size;
}
}
void maux_reset(maux_t *ma, int *rid_tab)
{
int i,j;
for (i=0; i<ma->n; i++) maux_expand1(&ma->buf[i],ma->files->readers[i].nbuffer+1);
for (i=0; i<ma->mals; i++)
{
free(ma->als[i]);
ma->als[i] = NULL;
}
const char *chr = NULL;
ma->nals = 0;
ma->pos = -1;
for (i=0; i<ma->n; i++)
{
if ( !bcf_sr_has_line(ma->files,i) ) continue;
bcf1_t *line = bcf_sr_get_line(ma->files,i);
bcf_hdr_t *hdr = bcf_sr_get_header(ma->files,i);
chr = bcf_seqname(hdr,line);
ma->pos = line->pos;
break;
}
int new_chr = 0;
if ( chr && (!ma->chr || strcmp(ma->chr,chr)) )
{
free(ma->chr);
ma->chr = strdup(chr);
new_chr = 1;
}
for (i=0; i<ma->n; i++)
{
bcf_hdr_t *hdr = bcf_sr_get_header(ma->files,i);
if (new_chr)
rid_tab[i] = bcf_hdr_name2id(hdr,chr);
ma->buf[i].rid = rid_tab[i];
ma->buf[i].beg = bcf_sr_has_line(ma->files,i) ? 0 : 1;
for (j=ma->buf[i].beg; j<=ma->files->readers[i].nbuffer; j++)
{
ma->buf[i].rec[j].skip = 0;
ma->buf[i].rec[j].var_types = 0;
bcf1_t *line = ma->files->readers[i].buffer[j];
if ( line->rid!=ma->buf[i].rid || line->pos!=ma->pos ) break;
}
ma->buf[i].end = j;
ma->buf[i].cur = -1;
if ( ma->buf[i].beg < ma->buf[i].end )
{
ma->buf[i].lines = ma->files->readers[i].buffer;
if ( ma->gvcf ) ma->gvcf[i].active = 0; // gvcf block cannot overlap with the next record
}
if ( new_chr && ma->gvcf ) ma->gvcf[i].active = 0; // make sure to close active gvcf block on new chr
}
}
void maux_debug(maux_t *ma, int ir, int ib)
{
printf("[%d,%d]\t", ir,ib);
int i;
for (i=0; i<ma->nals; i++)
{