1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266
|
/* plugins/GTsubset.c -- output only positions where the selected samples exclusively
share a genotype, i.e. all selected samples must have the same
genotype (including both alleles) and none of the unselected
samples can have the same genotype
Copyright (C) 2016 Computational Biology of Infection Research,
Helmholtz Centre for Infection Research, Braunschweig,
Germany
Author: David Laehnemann <david.laehnemann@hhu.de>
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 <stdlib.h>
#include <getopt.h>
#include <math.h>
#include <unistd.h>
#include <inttypes.h>
#include <htslib/vcf.h>
#include <htslib/synced_bcf_reader.h>
#include "bcftools.h"
typedef struct _args_t
{
bcf_hdr_t *hdr; /*! VCF file header */
int *gt_arr; /*! temporary array, to store GTs of current line/record */
int ngt_arr; /*! hold the number of current GT array entries */
int nsmp; /*! number of samples, can be determined from header but is needed in multiple contexts */
int n_sel_smps; /*! number of selected samples who should exclusively share genotypes */
int *selected_smps; /*! pointer to start of array containing 1 at indices corresponding to selected samples in header dict and 0 at others*/
}
args_t;
static args_t args;
const char *about(void)
{
return "Output only sites where the requested samples all exclusively share a genotype (GT).\n";
}
const char *usage(void)
{
return
"\n"
"About: Output only sites where the requested samples all exclusively share a genotype (GT), i.e.\n"
" all selected samples must have the same GT, while non of the others can have it.\n"
"Usage: bcftools +GTsubset <multisample.bcf/.vcf.gz> [General Options] -- [Plugin Options] \n"
"\n"
"Options:\n"
" run \"bcftools plugin\" for a list of common options\n"
"\n"
"Plugin options:\n"
" -s,--sample-list comma-separated list of samples; only those sites where all of these\n"
" samples exclusively share their genotype are given as output\n"
"\n"
"Example:\n"
" bcftools +GTsubset in.vcf -- -s SMP1,SMP2 \n"
"\n";
}
int init(int argc, char **argv, bcf_hdr_t *in, bcf_hdr_t *out)
{
memset(&args,0,sizeof(args_t));
int i;
static struct option loptions[] =
{
{"help", no_argument, 0,'h'},
{"sample-list", required_argument, 0,'s'},
{0,0,0,0}
};
char **smps_strs = NULL;
int c;
while ((c = getopt_long(argc, argv, "?s:h",loptions,NULL)) >= 0)
{
switch (c)
{
case 's': smps_strs = hts_readlist(optarg,0,&(args.n_sel_smps));
if ( args.n_sel_smps == 0 )
{
fprintf(stderr, "Sample specification not valid.\n");
error("%s", usage());
}
break;
case 'h': usage(); break;
case '?':
default: error("%s", usage()); break;
}
}
if ( optind != argc ) usage(); // too many files given
args.hdr = bcf_hdr_dup(in);
// Samples parsing from header and input option
if ( !bcf_hdr_nsamples(args.hdr) )
{
error("No samples in input file.\n");
}
args.nsmp = bcf_hdr_nsamples(args.hdr);
args.selected_smps = (int*) calloc(args.nsmp,sizeof(int));
for ( i = 0; i < args.n_sel_smps; i++ )
{
int ind = bcf_hdr_id2int(args.hdr, BCF_DT_SAMPLE, smps_strs[i]);
if ( ind == -1 )
{
error("Sample '%s' not in input vcf file.\n", smps_strs[i]);
} else {
args.selected_smps[ind] = 1;
}
free(smps_strs[i]);
}
free(smps_strs);
/*
fprintf(stderr, "Selected samples array:[");
for (i=0;i<args.nsmp;i++)
{
fprintf(stderr, " %i", args.selected_smps[i]);
}
fprintf(stderr, " ]\n");
*/
if ( bcf_hdr_id2int(args.hdr, BCF_DT_ID, "GT")<0 ) error("[E::%s] GT not present in the header\n", __func__);
args.gt_arr = NULL;
return 0;
}
/*
* GT field (genotype) comparison function.
*/
bcf1_t *process(bcf1_t *rec)
{
uint64_t i;
bcf_unpack(rec, BCF_UN_FMT); // unpack the Format fields, including the GT field
int gte_smp = 0; // number GT array entries per sample (should be 2, one entry per allele)
args.ngt_arr = 0; /*! hold the number of current GT array entries */
if ( (gte_smp = bcf_get_genotypes(args.hdr, rec, &(args.gt_arr), &(args.ngt_arr) ) ) <= 0 )
{
error("GT not present at %s: %"PRId64"\n", args.hdr->id[BCF_DT_CTG][rec->rid].key, (int64_t) rec->pos+1);
}
gte_smp /= args.nsmp; // divide total number of genotypes array entries (= args.ngt_arr) by number of samples
// initialize with missing genotype
int a1 = 0;
int a2 = 0;
// initialize with first selected sample genotype that is not missing
int gt = -1;
while ( (a1 == 0) || (a2 == 0) )
{
gt++;
if (gt == args.nsmp) break;
if (args.selected_smps[gt] == 0) continue;
a1 = (args.gt_arr + gte_smp * gt)[0];
if ( gte_smp == 2 ) a2 = (args.gt_arr + gte_smp * gt)[1];
else if ( gte_smp == 1 ) a2 = bcf_int32_vector_end;
else error("GTsubset does not support ploidy higher than 2.\n");
}
// fprintf(stderr, "a1: %i a2: %i\n", a1, a2);
// check all genotypes if they match (for included samples) or disagree (for samples not included)
gt = 0;
for ( i = 0; i < args.nsmp; i++ )
{
int *gt_ptr = args.gt_arr + gte_smp * i;
int b1 = gt_ptr[0];
int b2;
if ( gte_smp == 2 ) // two entries available per sample, padded with missing values for haploid genotypes
{
b2 = gt_ptr[1];
}
else if (gte_smp == 1 ) // use vector end value for second entry, if only one is available
{
b2 = bcf_int32_vector_end;
}
else
{
error("GTsubset does not support ploidy higher than 2.\n");
}
// fprintf(stderr, "b1: %i b2: %i\n", b1, b2);
/* missing genotypes are counted as always passing, as they neither
* mismatch the initial selected genotype for a selected sample, nor
* do they match the initial selected genotype for an excluded sample's
* genotype */
if ( (b1 == 0) || (b2 == 0) )
{
gt++;
// fprintf(stderr, "missing => pass\n");
continue;
}
else if ( args.selected_smps[i] == 1 )
{
if ( (b1 == a1) && (b2 == a2) )
{
gt++;
// fprintf(stderr, "match => pass\n");
continue;
}
else
{
// fprintf(stderr, "no match => fail\n");
break;
}
}
else if ( args.selected_smps[i] == 0 )
{
if ( (b1 != a1 ) || (b2 != a2) )
{
gt++;
// fprintf(stderr, "no match => pass\n");
continue;
}
else
{
// fprintf(stderr, "match => fail\n");
break;
}
}
}
if ( gt == args.nsmp )
{
return rec;
}
else
{
return NULL;
}
}
void destroy(void)
{
/* freeing up args */
bcf_hdr_destroy(args.hdr);
free(args.gt_arr);
free(args.selected_smps);
}
|