/* plugins/frameshifts.c -- annotates frameshift indels. Copyright (C) 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 bcf_hdr_t *in_hdr, *out_hdr; bcf_sr_regions_t *exons; int32_t *frm = NULL, nfrm = 0; const char *about(void) { return "Annotate frameshift indels.\n"; } const char *usage(void) { return "\n" "About: Annotate frameshift indels\n" "Usage: bcftools +frameshifts [General Options] -- [Plugin Options]\n" "Options:\n" " run \"bcftools plugin\" for a list of common options\n" "\n" "Plugin options:\n" " -e, --exons list of exons, see \"--targets-file\" man page entry for details\n" "\n" "Example:\n" " bcftools +frameshifts in.vcf -- -e exons.bed.gz\n" "\n"; } int init(int argc, char **argv, bcf_hdr_t *in, bcf_hdr_t *out) { int c; char *fname = NULL; static struct option loptions[] = { {"exons",1,0,'e'}, {0,0,0,0} }; while ((c = getopt_long(argc, argv, "e:?h",loptions,NULL)) >= 0) { switch (c) { case 'e': fname = optarg; break; case 'h': case '?': default: fprintf(stderr,"%s", usage()); exit(1); break; } } if ( !fname ) { fprintf(stderr,"Missing the -e option.\n"); return -1; } in_hdr = in; out_hdr = out; int ret = bcf_hdr_append(out_hdr,"##INFO="); if ( ret!=0 ) { fprintf(stderr,"Error updating the header\n"); return -1; } exons = bcf_sr_regions_init(fname,1,0,1,2); if ( !exons ) { fprintf(stderr,"Error occurred while reading (was the file compressed with bgzip?): %s\n", fname); return -1; } return 0; } bcf1_t *process(bcf1_t *rec) { if ( rec->n_allele<2 ) return rec; // not a variant int type = bcf_get_variant_types(rec); if ( !(type&VCF_INDEL) ) return rec; // not an indel int i, len = 0; for (i=1; in_allele; i++) if ( len > rec->d.var[i].n ) len = rec->d.var[i].n; int pos_to = len!=0 ? rec->pos : rec->pos - len; // len is negative if ( bcf_sr_regions_overlap(exons, bcf_seqname(in_hdr,rec),rec->pos,pos_to) ) return rec; // no overlap hts_expand(int32_t,rec->n_allele-1,nfrm,frm); for (i=1; in_allele; i++) { if ( rec->d.var[i].type!=VCF_INDEL ) { frm[i-1] = -1; continue; } int len = rec->d.var[i].n, tlen = 0; if ( len>0 ) { // insertion if ( exons->start <= rec->pos && exons->end > rec->pos ) tlen = abs(len); } else if ( exons->start <= rec->pos + abs(len) ) { // deletion tlen = abs(len); if ( rec->pos < exons->start ) // trim the beginning tlen -= exons->start - rec->pos + 1; if ( exons->end < rec->pos + abs(len) ) // trim the end tlen -= rec->pos + abs(len) - exons->end; } if ( tlen ) // there are some deleted/inserted bases in the exon { if ( tlen%3 ) frm[i-1] = 1; // out-of-frame else frm[i-1] = 0; // in-frame } else frm[i-1] = -1; // not applicable (is outside) } if ( bcf_update_info_int32(out_hdr,rec,"OOF",frm,rec->n_allele-1)<0 ) { fprintf(stderr, "Could not annotate OOF :-/\n"); exit(1); } return rec; } void destroy(void) { bcf_sr_regions_destroy(exons); }