/* Copyright (C) 2017-2023 Genome Research Ltd. Author: Petr Danecek 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. */ /* Compress gVCF file by resizing gVCF blocks according to specified criteria. */ #include #include #include #include #include #include #include #include #include #include #include #include #include #include #include "bcftools.h" #include "filter.h" #define FLT_INCLUDE 1 #define FLT_EXCLUDE 2 #define GQ_KEY_NONE NULL #define GQ_KEY_GQ "GQ" #define GQ_KEY_RGQ "RGQ" typedef struct { int32_t end, min_dp, gq, pl[3], grp; char *gq_key; bcf1_t *rec; } block_t; typedef struct { char *expr; // expression int flt_id; // filter id, -1 for PASS filter_t *flt; // filter } grp_t; typedef struct { filter_t *filter; char *filter_str; int filter_logic; block_t gvcf; htsFile *fh_out; int ngrp; grp_t *grp; char *group_by; int argc, region_is_file, target_is_file, output_type, trim_alts, clevel; int32_t *tmpi, mtmpi, mean_min_dp_reported; char **argv, *region, *target, *fname, *output_fname, *keep_tags; bcf_hdr_t *hdr_in, *hdr_out; bcf_srs_t *sr; char *index_fn; int write_index; } args_t; const char *about(void) { return "Compress gVCF file by resizing gVCF blocks according to specified criteria.\n"; } static const char *usage_text(void) { return "\n" "About: Compress gVCF file by resizing gVCF blocks according to specified criteria.\n" "\n" "Usage: bcftools +gvcfz [Options]\n" "Plugin options:\n" " -a, --trim-alt-alleles Trim alternate alleles not seen in the genotypes\n" " -e, --exclude Exclude sites for which the expression is true\n" " -i, --include Include sites for which the expression is true\n" " -g, --group-by EXPR Group gVCF blocks according to the expression\n" " -o, --output FILE Write gVCF output to the FILE\n" " -O, --output-type u|b|v|z[0-9] u/b: un/compressed BCF, v/z: un/compressed VCF, 0-9: compression level [v]\n" " --write-index Automatically index the output files [off]\n" "Examples:\n" " # Compress blocks by GQ and DP. Multiple blocks separated by a semicolon can be defined\n" " bcftools +gvcfz input.bcf -g'PASS:GQ>60 & DP<20; PASS:GQ>40 & DP<15; Flt1:QG>20; Flt2:-'\n" "\n" " # Compress all non-reference sites into a single block, remove unused alternate alleles\n" " bcftools +gvcfz input.bcf -a -g'PASS:GT!=\"alt\"'\n" "\n"; } static void init_groups(args_t *args) { args->hdr_out = bcf_hdr_dup(args->hdr_in); bcf_hdr_printf(args->hdr_out, "##INFO="); // avoid nested double quotes in FILTER description char *hdr_str = strdup(args->group_by); char *tmp = hdr_str; while (*tmp) { if ( *tmp=='"' ) *tmp = '\''; tmp++; } char *rmme_str = strdup(args->group_by), *beg = rmme_str; while ( *beg ) { while ( *beg && isspace(*beg) ) beg++; if ( !beg ) break; char *end = beg; while ( *end && *end!=':' ) end++; if ( *end!=':' ) error("Could not parse the expression: \"%s\"\n", args->group_by); *end = 0; char *flt = beg; beg = ++end; while ( *end && *end!=';' ) end++; char tmp = *end; *end = 0; if ( strcmp(flt,"PASS") ) { bcf_hdr_printf(args->hdr_out, "##FILTER=", flt, hdr_str); if (bcf_hdr_sync(args->hdr_out) < 0) error_errno("[%s] Failed to update header", __func__); } args->ngrp++; args->grp = (grp_t*) realloc(args->grp,sizeof(grp_t)*args->ngrp); grp_t *grp = args->grp + args->ngrp - 1; grp->expr = strdup(beg); grp->flt_id = bcf_hdr_id2int(args->hdr_out, BCF_DT_ID, flt); if ( !bcf_hdr_idinfo_exists(args->hdr_out, BCF_HL_FLT, grp->flt_id) ) error("Could not initialize the filter \"%s\"\n", flt); if ( !strcmp(flt,"PASS") ) grp->flt_id = -1; // remove trailing spaces beg = grp->expr + strlen(grp->expr); while ( beg >= grp->expr && isspace(*beg) ) { *beg = 0; beg--; } beg = grp->expr; while ( *beg && isspace(*beg) ) beg++; grp->flt = strcmp("-",beg) ? filter_init(args->hdr_in, grp->expr) : NULL; if ( !tmp ) break; beg = end + 1; } free(rmme_str); free(hdr_str); } static void destroy_data(args_t *args) { int i; for (i=0; ingrp; i++) { if ( args->grp[i].flt ) filter_destroy(args->grp[i].flt); free(args->grp[i].expr); } free(args->grp); if ( args->filter ) filter_destroy(args->filter); if ( args->write_index ) { if ( bcf_idx_save(args->fh_out)<0 ) { if ( hts_close(args->fh_out)!=0 ) error("Error: close failed .. %s\n", args->output_fname?args->output_fname:"stdout"); error("Error: cannot write to index %s\n", args->index_fn); } free(args->index_fn); } if ( hts_close(args->fh_out)!=0 ) error("failed to close %s\n", args->output_fname); bcf_sr_destroy(args->sr); if ( args->hdr_out ) bcf_hdr_destroy(args->hdr_out); if ( args->gvcf.rec ) bcf_destroy(args->gvcf.rec); free(args->tmpi); free(args); } static void flush_block(args_t *args, bcf1_t *rec) { block_t *gvcf = &args->gvcf; if ( gvcf->grp < 0 ) return; if ( rec && gvcf->end - 1 >= rec->pos ) gvcf->end = rec->pos; // NB: end is 1-based, rec->pos is 0-based if ( gvcf->rec->pos+1 < gvcf->end && bcf_update_info_int32(args->hdr_out,gvcf->rec,"END",&gvcf->end,1) != 0 ) error("Could not update INFO/END at %s:%"PRId64"\n", bcf_seqname(args->hdr_out,gvcf->rec),(int64_t) gvcf->rec->pos+1); if ( bcf_update_format_int32(args->hdr_out,gvcf->rec,"DP",&gvcf->min_dp,1) != 0 ) error("Could not update FORMAT/DP at %s:%"PRId64"\n", bcf_seqname(args->hdr_out,gvcf->rec),(int64_t) gvcf->rec->pos+1); if ( gvcf->gq_key ) { if ( bcf_update_format_int32(args->hdr_out,gvcf->rec,gvcf->gq_key,&gvcf->gq,1) != 0 ) error("Could not update FORMAT/%s at %s:%"PRId64"\n", gvcf->gq_key, bcf_seqname(args->hdr_out,gvcf->rec),(int64_t) gvcf->rec->pos+1); } if ( gvcf->pl[0] >=0 ) { if ( bcf_update_format_int32(args->hdr_out,gvcf->rec,"PL",&gvcf->pl,3) != 0 ) error("Could not update FORMAT/PL at %s:%"PRId64"\n", bcf_seqname(args->hdr_out,gvcf->rec),(int64_t) gvcf->rec->pos+1); } if ( gvcf->grp < args->ngrp && args->grp[gvcf->grp].flt_id >= 0 ) bcf_add_filter(args->hdr_out, gvcf->rec, args->grp[gvcf->grp].flt_id); if ( bcf_write(args->fh_out, args->hdr_out, gvcf->rec)!=0 ) error("Failed to write the header\n"); gvcf->grp = -1; } static void process_gvcf(args_t *args) { bcf1_t *rec = bcf_sr_get_line(args->sr,0); if ( args->filter ) { int pass = filter_test(args->filter, rec, NULL); if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; if ( !pass ) return; } if ( rec->n_allele > 2 || (rec->n_allele == 2 && strcmp("",rec->d.allele[1]) && strcmp("<*>",rec->d.allele[1])) ) { if ( args->trim_alts ) { bcf_unpack(rec, BCF_UN_ALL); if ( bcf_trim_alleles(args->hdr_in, rec)<0 ) error("Error: Could not trim alleles at %s:%"PRId64"\n", bcf_seqname(args->hdr_in, rec),(int64_t) rec->pos+1); // trim the ref allele if necessary if ( rec->d.allele[0][1] ) { rec->d.allele[0][1] = 0; bcf_update_alleles(args->hdr_in, rec, (const char**)rec->d.allele, 1); } } if ( rec->n_allele > 2 || (rec->n_allele == 2 && strcmp("",rec->d.allele[1]) && strcmp("<*>",rec->d.allele[1])) ) { // not a gvcf block flush_block(args, rec); if ( bcf_write(args->fh_out, args->hdr_out, rec)!=0 ) error("Failed to write\n"); return; } } int ret = bcf_get_info_int32(args->hdr_in,rec,"END",&args->tmpi,&args->mtmpi); int32_t end = ret==1 ? args->tmpi[0] : rec->pos + 1; char *gq_key = GQ_KEY_GQ; ret = bcf_get_format_int32(args->hdr_in,rec,gq_key,&args->tmpi,&args->mtmpi); if ( ret!=1 ) { gq_key = GQ_KEY_RGQ; if ( ret<1 ) ret = bcf_get_format_int32(args->hdr_in,rec,gq_key,&args->tmpi,&args->mtmpi); if ( ret!=1 ) gq_key = GQ_KEY_NONE; } int32_t gq = ret==1 ? args->tmpi[0] : 0; int32_t min_dp = 0; if ( bcf_get_format_int32(args->hdr_in,rec,"MIN_DP",&args->tmpi,&args->mtmpi)==1 ) min_dp = args->tmpi[0]; else if ( bcf_get_format_int32(args->hdr_in,rec,"DP",&args->tmpi,&args->mtmpi)==1 ) min_dp = args->tmpi[0]; else error("Expected one FORMAT/MIN_DP or FORMAT/DP value at %s:%"PRId64"\n", bcf_seqname(args->hdr_in,rec),(int64_t) rec->pos+1); int32_t pl[3] = {-1,-1,-1}; ret = bcf_get_format_int32(args->hdr_in,rec,"PL",&args->tmpi,&args->mtmpi); if ( ret>3 ) error("Expected three FORMAT/PL values at %s:%"PRId64"\n", bcf_seqname(args->hdr_in,rec),(int64_t) rec->pos+1); else if ( ret==3 ) { pl[0] = args->tmpi[0]; pl[1] = args->tmpi[1]; pl[2] = args->tmpi[2]; } int i; for (i=0; ingrp; i++) if ( !args->grp[i].flt || filter_test(args->grp[i].flt, rec, NULL)==1 ) break; if ( args->gvcf.grp != i ) flush_block(args, rec); // new block if ( args->gvcf.grp >= 0 && args->gvcf.rec->rid != rec->rid ) flush_block(args, NULL); // new chromosome if ( args->gvcf.grp >= 0 ) // extend an existing block { if ( args->gvcf.end < end ) args->gvcf.end = end; if ( args->gvcf.gq_key!=GQ_KEY_NONE && gq_key!=GQ_KEY_NONE && args->gvcf.gq > gq ) args->gvcf.gq = gq; if ( args->gvcf.min_dp > min_dp ) args->gvcf.min_dp = min_dp; if ( args->gvcf.pl[0] > pl[0] ) args->gvcf.pl[0] = pl[0]; if ( args->gvcf.pl[1] > pl[1] ) args->gvcf.pl[1] = pl[1]; if ( args->gvcf.pl[2] > pl[2] ) args->gvcf.pl[2] = pl[2]; return; } // start a new block args->gvcf.rec = bcf_copy(args->gvcf.rec, rec); args->gvcf.grp = i; args->gvcf.min_dp = min_dp; args->gvcf.end = end; args->gvcf.pl[0] = pl[0]; args->gvcf.pl[1] = pl[1]; args->gvcf.pl[2] = pl[2]; args->gvcf.gq_key = gq_key; if ( gq_key!=GQ_KEY_NONE ) args->gvcf.gq = gq; } int run(int argc, char **argv) { args_t *args = (args_t*) calloc(1,sizeof(args_t)); args->argc = argc; args->argv = argv; args->output_type = FT_VCF; args->output_fname = "-"; args->clevel = -1; static struct option loptions[] = { {"trim-alt-alleles",required_argument,0,'a'}, {"include",required_argument,0,'i'}, {"exclude",required_argument,0,'e'}, {"group-by",required_argument,NULL,'g'}, {"stats",required_argument,NULL,'s'}, {"output",required_argument,NULL,'o'}, {"output-type",required_argument,NULL,'O'}, {"write-index",no_argument,NULL,1}, {NULL,0,NULL,0} }; int c; char *tmp; while ((c = getopt_long(argc, argv, "vr:R:t:T:o:O:g:i:e:a",loptions,NULL)) >= 0) { switch (c) { case 'a': args->trim_alts = 1; break; case 'e': if ( args->filter_str ) error("Error: only one -i or -e expression can be given, and they cannot be combined\n"); args->filter_str = optarg; args->filter_logic |= FLT_EXCLUDE; break; case 'i': if ( args->filter_str ) error("Error: only one -i or -e expression can be given, and they cannot be combined\n"); args->filter_str = optarg; args->filter_logic |= FLT_INCLUDE; break; case 'g': args->group_by = optarg; break; case 'o': args->output_fname = optarg; break; case 'O': switch (optarg[0]) { case 'b': args->output_type = FT_BCF_GZ; break; case 'u': args->output_type = FT_BCF; break; case 'z': args->output_type = FT_VCF_GZ; break; case 'v': args->output_type = FT_VCF; break; default: { args->clevel = strtol(optarg,&tmp,10); if ( *tmp || args->clevel<0 || args->clevel>9 ) error("The output type \"%s\" not recognised\n", optarg); } } if ( optarg[1] ) { args->clevel = strtol(optarg+1,&tmp,10); if ( *tmp || args->clevel<0 || args->clevel>9 ) error("Could not parse argument: --compression-level %s\n", optarg+1); } break; case 1 : args->write_index = 1; break; case 'h': case '?': default: error("%s", usage_text()); break; } } if ( optind==argc ) { if ( !isatty(fileno((FILE *)stdin)) ) args->fname = "-"; // reading from stdin else { error("%s", usage_text()); } } else if ( optind+1!=argc ) error("%s", usage_text()); else args->fname = argv[optind]; if ( !args->group_by ) error("Missing the -g option\n"); args->gvcf.rec = bcf_init(); args->gvcf.grp = -1; // the block is inactive args->sr = bcf_sr_init(); if ( !bcf_sr_add_reader(args->sr,args->fname) ) error("Error: %s\n", bcf_sr_strerror(args->sr->errnum)); args->hdr_in = bcf_sr_get_header(args->sr,0); if ( args->filter_str ) args->filter = filter_init(args->hdr_in, args->filter_str); init_groups(args); char wmode[8]; set_wmode(wmode,args->output_type,args->output_fname,args->clevel); args->fh_out = hts_open(args->output_fname ? args->output_fname : "-", wmode); if ( bcf_hdr_write(args->fh_out, args->hdr_out)!=0 ) error("Failed to write the header\n"); if ( args->write_index && init_index(args->fh_out,args->hdr_out,args->output_fname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->output_fname); while ( bcf_sr_next_line(args->sr) ) process_gvcf(args); flush_block(args, NULL); destroy_data(args); return 0; }