/* vcfisec.c -- Create intersections, unions and complements of VCF files. Copyright (C) 2012-2014 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. */ #include #include #include #include #include #include #include #include #include #include #include #include "bcftools.h" #include "filter.h" #define OP_PLUS 1 #define OP_MINUS 2 #define OP_EQUAL 3 #define OP_VENN 4 #define OP_COMPLEMENT 5 // Logic of the filters: include or exclude sites which match the filters? #define FLT_INCLUDE 1 #define FLT_EXCLUDE 2 typedef struct { int isec_op, isec_n, *write, iwrite, nwrite, output_type; int nflt, *flt_logic; filter_t **flt; char **flt_expr; bcf_srs_t *files; FILE *fh_log, *fh_sites; htsFile **fh_out; char **argv, *prefix, *output_fname, **fnames, *write_files, *targets_list, *regions_list; int argc; } args_t; /** * mkdir_p() - create new directory for a file $fname * @fname: the file name to create the directory for, the part after last "/" is ignored */ void mkdir_p(const char *fmt, ...) { va_list ap; va_start(ap, fmt); int n = vsnprintf(NULL, 0, fmt, ap) + 2; va_end(ap); char *path = (char*)malloc(n); va_start(ap, fmt); vsnprintf(path, n, fmt, ap); va_end(ap); char *tmp = strdup(path), *p = tmp+1; while (*p) { while (*p && *p!='/') p++; if ( *p ) { *p = 0; mkdir(tmp,S_IRWXU | S_IRWXG | S_IROTH | S_IXOTH); *p = '/'; p++; } } free(tmp); free(path); } /** * open_file() - open new file creating the file name using vsnprintf * @fname: if not NULL, on output will point to newly allocated fname string * @mode: if NULL, only the file name string will be created * @fmt: vsnprintf format and args * * Returns open file descriptor or NULL if mode is NULL. */ FILE *open_file(char **fname, const char *mode, const char *fmt, ...) { va_list ap; va_start(ap, fmt); int n = vsnprintf(NULL, 0, fmt, ap) + 2; va_end(ap); char *str = (char*)malloc(n); va_start(ap, fmt); vsnprintf(str, n, fmt, ap); va_end(ap); mkdir_p(str); if ( !mode ) { if ( !fname ) error("Uh: expected fname or mode\n"); *fname = str; return NULL; } FILE *fp = fopen(str,mode); if ( fname ) *fname = str; else free(str); return fp; } const char *hts_bcf_wmode(int file_type) { if ( file_type == FT_BCF ) return "wbu"; // uncompressed BCF if ( file_type & FT_BCF ) return "wb"; // compressed BCF if ( file_type & FT_GZ ) return "wz"; // compressed VCF return "w"; // uncompressed VCF } void isec_vcf(args_t *args) { bcf_srs_t *files = args->files; kstring_t str = {0,0,0}; htsFile *out_fh = NULL; // When only one VCF is output, print VCF to stdout or -o file int out_std = 0; if ( args->nwrite==1 && !args->prefix ) out_std = 1; if ( args->targets_list && files->nreaders==1 ) out_std = 1; if ( out_std ) { out_fh = hts_open(args->output_fname? args->output_fname : "-",hts_bcf_wmode(args->output_type)); if ( out_fh == NULL ) error("Can't write to %s: %s\n", args->output_fname? args->output_fname : "standard output", strerror(errno)); bcf_hdr_append_version(files->readers[args->iwrite].header,args->argc,args->argv,"bcftools_isec"); bcf_hdr_write(out_fh, files->readers[args->iwrite].header); } if ( !args->nwrite && !out_std && !args->prefix ) fprintf(stderr,"Note: -w option not given, printing list of sites...\n"); int n; while ( (n=bcf_sr_next_line(files)) ) { bcf_sr_t *reader = NULL; bcf1_t *line = NULL; int i, ret = 0; for (i=0; inreaders; i++) { if ( !bcf_sr_has_line(files,i) ) continue; if ( args->nflt && args->flt[i] ) { bcf1_t *rec = bcf_sr_get_line(files, i); int pass = filter_test(args->flt[i], rec, NULL); if ( args->flt_logic[i] & FLT_EXCLUDE ) pass = pass ? 0 : 1; if ( !pass ) { files->has_line[i] = 0; n--; continue; } } if ( !line ) { line = files->readers[i].buffer[0]; reader = &files->readers[i]; } ret |= 1<isec_op) { case OP_COMPLEMENT: if ( n!=1 || !bcf_sr_has_line(files,0) ) continue; break; case OP_EQUAL: if ( n != args->isec_n ) continue; break; case OP_PLUS: if ( n < args->isec_n ) continue; break; case OP_MINUS: if ( n > args->isec_n ) continue; } if ( out_std ) { if ( bcf_sr_has_line(files,args->iwrite) ) bcf_write1(out_fh, files->readers[args->iwrite].header, files->readers[args->iwrite].buffer[0]); continue; } else if ( args->fh_sites ) { str.l = 0; kputs(reader->header->id[BCF_DT_CTG][line->rid].key, &str); kputc('\t', &str); kputw(line->pos+1, &str); kputc('\t', &str); if (line->n_allele > 0) kputs(line->d.allele[0], &str); else kputc('.', &str); kputc('\t', &str); if (line->n_allele > 1) kputs(line->d.allele[1], &str); else kputc('.', &str); for (i=2; in_allele; i++) { kputc(',', &str); kputs(line->d.allele[i], &str); } kputc('\t', &str); for (i=0; inreaders; i++) kputc(bcf_sr_has_line(files,i)?'1':'0', &str); kputc('\n', &str); fwrite(str.s,sizeof(char),str.l,args->fh_sites); } if ( args->prefix ) { if ( args->isec_op==OP_VENN && ret==3 ) { if ( !args->nwrite || args->write[0] ) bcf_write1(args->fh_out[2], bcf_sr_get_header(files,0), bcf_sr_get_line(files,0)); if ( !args->nwrite || args->write[1] ) bcf_write1(args->fh_out[3], bcf_sr_get_header(files,1), bcf_sr_get_line(files,1)); } else { for (i=0; inreaders; i++) { if ( !bcf_sr_has_line(files,i) ) continue; if ( args->write && !args->write[i] ) continue; bcf_write1(args->fh_out[i], files->readers[i].header, files->readers[i].buffer[0]); } } } } if ( str.s ) free(str.s); if ( out_fh ) hts_close(out_fh); } static void add_filter(args_t *args, char *expr, int logic) { args->nflt++; args->flt_expr = (char**) realloc(args->flt_expr,sizeof(char*)*args->nflt); args->flt_logic = (int*) realloc(args->flt_logic,sizeof(int)*args->nflt); args->flt = (filter_t**) realloc(args->flt,sizeof(filter_t*)*args->nflt); if ( expr[0]=='-' && expr[1]==0 ) { args->flt_expr[args->nflt-1] = NULL; args->flt[args->nflt-1] = NULL; } else args->flt_expr[args->nflt-1] = expr; args->flt_logic[args->nflt-1] = logic; } static void destroy_data(args_t *args); static void init_data(args_t *args) { int i; if ( args->nflt ) { if ( args->nflt > 1 && args->nflt!=args->files->nreaders ) error("Error: expected either one -i/-e option or as many as there are input files\n"); if ( args->nflt < args->files->nreaders ) { if ( !args->flt_expr[0] ) error("Error: useless use of -i/-e\n"); args->nflt = args->files->nreaders; args->flt_expr = (char**) realloc(args->flt_expr,sizeof(char*)*args->nflt); args->flt_logic = (int*) realloc(args->flt_logic,sizeof(int)*args->nflt); args->flt = (filter_t**) realloc(args->flt,sizeof(filter_t*)*args->nflt); for (i=1; inflt; i++) { args->flt_expr[i] = args->flt_expr[0]; args->flt_logic[i] = args->flt_logic[0]; args->flt[i] = filter_init(args->files->readers[i].header,args->flt_expr[i]); } args->flt[0] = filter_init(args->files->readers[0].header,args->flt_expr[0]); } else { for (i=0; ifiles->nreaders; i++) { if ( !args->flt_expr[i] ) continue; args->flt[i] = filter_init(args->files->readers[i].header,args->flt_expr[i]); } } } // Which files to write: parse the string passed with -w char *p = args->write_files; while (p && *p) { if ( !args->write ) args->write = (int*) calloc(args->files->nreaders,sizeof(int)); if ( sscanf(p,"%d",&i)!=1 ) error("Could not parse --write %s\n", args->write_files); if ( i<0 || i>args->files->nreaders ) error("The index is out of range: %d (%s)\n", i, args->write_files); args->write[i-1] = 1; args->iwrite = i-1; args->nwrite++; while (*p && *p!=',') p++; if ( *p==',' ) p++; } if ( args->nwrite>1 && !args->prefix ) error("Expected -p when mutliple output files given: --write %s\n", args->write_files); if ( args->isec_op==OP_COMPLEMENT && args->nwrite ) { if ( args->nwrite>1 ) error("Multiple files to -w make no sense with -C\n"); if ( !args->write[0] ) error("Only -w1 makes sense with -C\n"); } if ( args->prefix ) { // Init output directory and create the readme file args->fh_log = open_file(NULL,"w","%s/README.txt", args->prefix); if ( !args->fh_log ) error("%s/README.txt: %s\n", args->prefix, strerror(errno)); fprintf(args->fh_log,"This file was produced by vcfisec.\n"); fprintf(args->fh_log,"The command line was:\tbcftools %s ", args->argv[0]); int i; for (i=1; iargc; i++) fprintf(args->fh_log," %s",args->argv[i]); fprintf(args->fh_log,"\n\nUsing the following file names:\n"); const char *suffix = "vcf"; if ( args->output_type & FT_BCF ) suffix = "bcf"; else if ( args->output_type & FT_GZ ) suffix = "vcf.gz"; // Open output files and write the legend if ( args->isec_op==OP_VENN ) { args->fh_out = (htsFile**) malloc(sizeof(htsFile*)*4); args->fnames = (char**) calloc(4,sizeof(char*)); #define OPEN_FILE(i,j) { \ open_file(&args->fnames[i], NULL, "%s/%04d.%s", args->prefix, i, suffix); \ args->fh_out[i] = hts_open(args->fnames[i], hts_bcf_wmode(args->output_type)); \ if ( !args->fh_out[i] ) error("Could not open %s\n", args->fnames[i]); \ bcf_hdr_append_version(args->files->readers[j].header,args->argc,args->argv,"bcftools_isec"); \ bcf_hdr_write(args->fh_out[i], args->files->readers[j].header); \ } if ( !args->nwrite || args->write[0] ) { OPEN_FILE(0,0); fprintf(args->fh_log,"%s\tfor records private to\t%s\n", args->fnames[0], args->files->readers[0].fname); } if ( !args->nwrite || args->write[1] ) { OPEN_FILE(1,1); fprintf(args->fh_log,"%s\tfor records private to\t%s\n", args->fnames[1], args->files->readers[1].fname); } if ( !args->nwrite || args->write[0] ) { OPEN_FILE(2,0); fprintf(args->fh_log,"%s\tfor records from %s shared by both\t%s %s\n", args->fnames[2], args->files->readers[0].fname, args->files->readers[0].fname, args->files->readers[1].fname); } if ( !args->nwrite || args->write[1] ) { OPEN_FILE(3,1); fprintf(args->fh_log,"%s\tfor records from %s shared by both\t%s %s\n", args->fnames[3], args->files->readers[1].fname, args->files->readers[0].fname, args->files->readers[1].fname); } } else { // Init one output file for each reader args->fh_out = (htsFile**) calloc(args->files->nreaders, sizeof(htsFile*)); args->fnames = (char**) calloc(args->files->nreaders, sizeof(char*)); for (i=0; ifiles->nreaders; i++) { if ( args->write && !args->write[i] ) continue; if ( args->isec_op==OP_COMPLEMENT && i>0 ) break; OPEN_FILE(i,i); fprintf(args->fh_log,"%s\tfor stripped\t%s\n", args->fnames[i], args->files->readers[i].fname); } #undef OPEN_FILE args->fh_sites = open_file(NULL, "w", "%s/sites.txt", args->prefix); if ( !args->fh_sites ) error("%s/sites.txt: %s\n", args->prefix, strerror(errno)); } } else { if (args->output_fname) { args->fh_sites = fopen(args->output_fname, "w"); if ( args->fh_sites == NULL ) error("Can't write to \"%s\": %s\n", args->output_fname, strerror(errno)); } else args->fh_sites = stdout; } } static void destroy_data(args_t *args) { int i; if ( args->nflt ) { for (i=0; inflt; i++) { if ( !args->flt[i] ) continue; filter_destroy(args->flt[i]); } free(args->flt_expr); free(args->flt); free(args->flt_logic); } if ( args->prefix ) { fclose(args->fh_log); int n = args->isec_op==OP_VENN ? 4 : args->files->nreaders; for (i=0; ifnames[i] ) continue; hts_close(args->fh_out[i]); if ( args->output_type==FT_VCF_GZ ) { tbx_conf_t conf = tbx_conf_vcf; tbx_index_build(args->fnames[i], -1, &conf); } else if ( args->output_type==FT_BCF_GZ ) { if ( bcf_index_build(args->fnames[i],14) ) error("Could not index %s\n", args->fnames[i]); } free(args->fnames[i]); } free(args->fh_out); free(args->fnames); if ( args->fh_sites ) fclose(args->fh_sites); if ( args->write ) free(args->write); } } static void usage(void) { fprintf(stderr, "\n"); fprintf(stderr, "About: Create intersections, unions and complements of VCF files.\n"); fprintf(stderr, "Usage: bcftools isec [options] [...]\n"); fprintf(stderr, "\n"); fprintf(stderr, "Options:\n"); fprintf(stderr, " -c, --collapse treat as identical records with , see man page for details [none]\n"); fprintf(stderr, " -C, --complement output positions present only in the first file but missing in the others\n"); fprintf(stderr, " -e, --exclude exclude sites for which the expression is true\n"); fprintf(stderr, " -f, --apply-filters require at least one of the listed FILTER strings (e.g. \"PASS,.\")\n"); fprintf(stderr, " -i, --include include only sites for which the expression is true\n"); fprintf(stderr, " -n, --nfiles [+-=] output positions present in this many (=), this many or more (+), or this many or fewer (-) files\n"); fprintf(stderr, " -o, --output write output to a file [standard output]\n"); fprintf(stderr, " -O, --output-type b: compressed BCF, u: uncompressed BCF, z: compressed VCF, v: uncompressed VCF [v]\n"); fprintf(stderr, " -p, --prefix if given, subset each of the input files accordingly, see also -w\n"); fprintf(stderr, " -r, --regions restrict to comma-separated list of regions\n"); fprintf(stderr, " -R, --regions-file restrict to regions listed in a file\n"); fprintf(stderr, " -t, --targets similar to -r but streams rather than index-jumps\n"); fprintf(stderr, " -T, --targets-file similar to -R but streams rather than index-jumps\n"); fprintf(stderr, " -w, --write list of files to write with -p given as 1-based indexes. By default, all files are written\n"); fprintf(stderr, "\n"); fprintf(stderr, "Examples:\n"); fprintf(stderr, " # Create intersection and complements of two sets saving the output in dir/*\n"); fprintf(stderr, " bcftools isec A.vcf.gz B.vcf.gz -p dir\n"); fprintf(stderr, "\n"); fprintf(stderr, " # Filter sites in A and B (but not in C) and create intersection\n"); fprintf(stderr, " bcftools isec -e'MAF<0.01' -i'dbSNP=1' -e - A.vcf.gz B.vcf.gz C.vcf.gz -p dir\n"); fprintf(stderr, "\n"); fprintf(stderr, " # Extract and write records from A shared by both A and B using exact allele match\n"); fprintf(stderr, " bcftools isec A.vcf.gz B.vcf.gz -p dir -n =2 -w 1\n"); fprintf(stderr, "\n"); fprintf(stderr, " # Extract records private to A or B comparing by position only\n"); fprintf(stderr, " bcftools isec A.vcf.gz B.vcf.gz -p dir -n -1 -c all\n"); fprintf(stderr, "\n"); exit(1); } int main_vcfisec(int argc, char *argv[]) { int c; args_t *args = (args_t*) calloc(1,sizeof(args_t)); args->files = bcf_sr_init(); args->argc = argc; args->argv = argv; args->output_fname = NULL; args->output_type = FT_VCF; int targets_is_file = 0, regions_is_file = 0; static struct option loptions[] = { {"help",0,0,'h'}, {"exclude",1,0,'e'}, {"include",1,0,'i'}, {"collapse",1,0,'c'}, {"complement",0,0,'C'}, {"apply-filters",1,0,'f'}, {"nfiles",1,0,'n'}, {"prefix",1,0,'p'}, {"write",1,0,'w'}, {"targets",1,0,'t'}, {"targets-file",1,0,'T'}, {"regions",1,0,'r'}, {"regions-file",1,0,'R'}, {"output",1,0,'o'}, {"output-type",1,0,'O'}, {0,0,0,0} }; while ((c = getopt_long(argc, argv, "hc:r:R:p:n:w:t:T:Cf:o:O:i:e:",loptions,NULL)) >= 0) { switch (c) { 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: error("The output type \"%s\" not recognised\n", optarg); } break; case 'c': if ( !strcmp(optarg,"snps") ) args->files->collapse |= COLLAPSE_SNPS; else if ( !strcmp(optarg,"indels") ) args->files->collapse |= COLLAPSE_INDELS; else if ( !strcmp(optarg,"both") ) args->files->collapse |= COLLAPSE_SNPS | COLLAPSE_INDELS; else if ( !strcmp(optarg,"any") ) args->files->collapse |= COLLAPSE_ANY; else if ( !strcmp(optarg,"all") ) args->files->collapse |= COLLAPSE_ANY; else if ( !strcmp(optarg,"some") ) args->files->collapse |= COLLAPSE_SOME; else if ( !strcmp(optarg,"none") ) args->files->collapse = COLLAPSE_NONE; else error("The --collapse string \"%s\" not recognised.\n", optarg); break; case 'f': args->files->apply_filters = optarg; break; case 'C': args->isec_op = OP_COMPLEMENT; break; case 'r': args->regions_list = optarg; break; case 'R': args->regions_list = optarg; regions_is_file = 1; break; case 't': args->targets_list = optarg; break; case 'T': args->targets_list = optarg; targets_is_file = 1; break; case 'p': args->prefix = optarg; break; case 'w': args->write_files = optarg; break; case 'i': add_filter(args, optarg, FLT_INCLUDE); break; case 'e': add_filter(args, optarg, FLT_EXCLUDE); break; case 'n': { char *p = optarg; if ( *p=='-' ) { args->isec_op = OP_MINUS; p++; } else if ( *p=='+' ) { args->isec_op = OP_PLUS; p++; } else if ( *p=='=' ) { args->isec_op = OP_EQUAL; p++; } else if ( isdigit(*p) ) args->isec_op = OP_EQUAL; else error("Could not parse --nfiles %s\n", optarg); if ( sscanf(p,"%d",&args->isec_n)!=1 ) error("Could not parse --nfiles %s\n", optarg); } break; case 'h': case '?': usage(); default: error("Unknown argument: %s\n", optarg); } } if ( argc-optind<1 ) usage(); // no file given if ( args->targets_list && bcf_sr_set_targets(args->files, args->targets_list, targets_is_file,0)<0 ) error("Failed to read the targets: %s\n", args->targets_list); if ( args->regions_list && bcf_sr_set_regions(args->files, args->regions_list, regions_is_file)<0 ) error("Failed to read the regions: %s\n", args->regions_list); if ( argc-optind==2 && !args->isec_op ) { args->isec_op = OP_VENN; if ( !args->prefix ) error("Expected the -p option\n"); } if ( !args->targets_list ) { if ( argc-optind<2 ) error("Expected multiple files or the --targets option\n"); if ( !args->isec_op ) error("Expected two file names or one of the options --complement, --nfiles or --targets\n"); } args->files->require_index = 1; while (optindfiles, argv[optind]) ) error("Failed to open %s: %s\n", argv[optind],bcf_sr_strerror(args->files->errnum)); optind++; } init_data(args); isec_vcf(args); destroy_data(args); bcf_sr_destroy(args->files); free(args); return 0; }