#define VC_CALL_GT 2048
#define VC_ADJLD 4096
#define VC_NO_INDEL 8192
-#define VC_FOLDED 16384
+#define VC_ANNO_MAX 16384
typedef struct {
- int flag, prior_type, n1;
- char *fn_list, *prior_file;
+ int flag, prior_type, n1, n_sub, *sublist;
+ char *fn_list, *prior_file, **subsam, *fn_dict;
double theta, pref, indel_frac;
} viewconf_t;
{
kstring_t s;
int is_var = (pr->p_ref < pref);
- double p_hwe, r = is_var? pr->p_ref : 1. - pr->p_ref;
+ double p_hwe, r = is_var? pr->p_ref : pr->p_var, fq;
anno16_t a;
p_hwe = pr->g[0] >= 0.? test_hwe(pr->g) : 1.0; // only do HWE g[] is calculated
kputs(b->info, &s);
if (b->info[0]) kputc(';', &s);
// ksprintf(&s, "AF1=%.4lg;AFE=%.4lg;CI95=%.4lg,%.4lg", 1.-pr->f_em, 1.-pr->f_exp, pr->cil, pr->cih);
- ksprintf(&s, "AF1=%.4lg;CI95=%.4lg,%.4lg", 1.-pr->f_em, pr->cil, pr->cih);
+ ksprintf(&s, "AF1=%.4g;CI95=%.4g,%.4g", 1.-pr->f_em, pr->cil, pr->cih);
ksprintf(&s, ";DP4=%d,%d,%d,%d;MQ=%d", a.d[0], a.d[1], a.d[2], a.d[3], a.mq);
+ fq = pr->p_ref_folded < 0.5? -4.343 * log(pr->p_ref_folded) : 4.343 * log(pr->p_var_folded);
+ if (fq < -999) fq = -999;
+ if (fq > 999) fq = 999;
+ ksprintf(&s, ";FQ=%.3g", fq);
if (a.is_tested) {
- if (pr->pc[0] >= 0.) ksprintf(&s, ";PC4=%lg,%lg,%lg,%lg", pr->pc[0], pr->pc[1], pr->pc[2], pr->pc[3]);
- ksprintf(&s, ";PV4=%.2lg,%.2lg,%.2lg,%.2lg", a.p[0], a.p[1], a.p[2], a.p[3]);
+ if (pr->pc[0] >= 0.) ksprintf(&s, ";PC4=%g,%g,%g,%g", pr->pc[0], pr->pc[1], pr->pc[2], pr->pc[3]);
+ ksprintf(&s, ";PV4=%.2g,%.2g,%.2g,%.2g", a.p[0], a.p[1], a.p[2], a.p[3]);
}
if (pr->g[0] >= 0. && p_hwe <= .2)
- ksprintf(&s, ";GC=%.2lf,%.2lf,%.2lf;HWE=%.3lf", pr->g[2], pr->g[1], pr->g[0], p_hwe);
+ ksprintf(&s, ";GC=%.2f,%.2f,%.2f;HWE=%.3f", pr->g[2], pr->g[1], pr->g[0], p_hwe);
kputc('\0', &s);
kputs(b->fmt, &s); kputc('\0', &s);
free(b->str);
b->m_str = s.m; b->l_str = s.l; b->str = s.s;
- b->qual = r < 1e-100? 99 : -4.343 * log(r);
- if (b->qual > 99) b->qual = 99;
+ b->qual = r < 1e-100? 999 : -4.343 * log(r);
+ if (b->qual > 999) b->qual = 999;
bcf_sync(b);
if (!is_var) bcf_shrink_alt(b, 1);
else if (!(flag&VC_KEEPALT))
return is_var;
}
+static char **read_samples(const char *fn, int *_n)
+{
+ gzFile fp;
+ kstream_t *ks;
+ kstring_t s;
+ int dret, n = 0, max = 0;
+ char **sam = 0;
+ *_n = 0;
+ s.l = s.m = 0; s.s = 0;
+ fp = gzopen(fn, "r");
+ if (fp == 0) return 0; // fail to open file
+ ks = ks_init(fp);
+ while (ks_getuntil(ks, 0, &s, &dret) >= 0) {
+ if (max == n) {
+ max = max? max<<1 : 4;
+ sam = realloc(sam, sizeof(void*)*max);
+ }
+ sam[n++] = strdup(s.s);
+ }
+ ks_destroy(ks);
+ gzclose(fp);
+ free(s.s);
+ *_n = n;
+ return sam;
+}
+
+static void write_header(bcf_hdr_t *h)
+{
+ kstring_t str;
+ str.l = h->l_txt? h->l_txt - 1 : 0;
+ str.m = str.l + 1; str.s = h->txt;
+ if (!strstr(str.s, "##INFO=<ID=DP,"))
+ kputs("##INFO=<ID=DP,Number=1,Type=Integer,Description=\"Raw read depth\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=DP4,"))
+ kputs("##INFO=<ID=DP4,Number=4,Type=Integer,Description=\"# high-quality ref-forward bases, ref-reverse, alt-forward and alt-reverse bases\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=MQ,"))
+ kputs("##INFO=<ID=MQ,Number=1,Type=Integer,Description=\"Root-mean-square mapping quality of covering reads\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=FQ,"))
+ kputs("##INFO=<ID=FQ,Number=1,Type=Float,Description=\"Phred probability that sample chromosomes are not all the same\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=AF1,"))
+ kputs("##INFO=<ID=AF1,Number=1,Type=Float,Description=\"Max-likelihood estimate of the site allele frequency of the first ALT allele\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=CI95,"))
+ kputs("##INFO=<ID=CI95,Number=2,Type=Float,Description=\"Equal-tail Bayesian credible interval of the site allele frequency at the 95% level\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=PV4,"))
+ kputs("##INFO=<ID=PV4,Number=4,Type=Float,Description=\"P-values for strand bias, baseQ bias, mapQ bias and tail distance bias\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=INDEL,"))
+ kputs("##INFO=<ID=INDEL,Number=0,Type=Flag,Description=\"Indicates that the variant is an INDEL.\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=GT,"))
+ kputs("##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">\n", &str);
+ if (!strstr(str.s, "##FORMAT=<ID=GQ,"))
+ kputs("##FORMAT=<ID=GQ,Number=1,Type=Integer,Description=\"Genotype Quality\">\n", &str);
+ if (!strstr(str.s, "##FORMAT=<ID=GL,"))
+ kputs("##FORMAT=<ID=GL,Number=3,Type=Float,Description=\"Likelihoods for RR,RA,AA genotypes (R=ref,A=alt)\">\n", &str);
+ if (!strstr(str.s, "##FORMAT=<ID=DP,"))
+ kputs("##FORMAT=<ID=DP,Number=1,Type=Integer,Description=\"# high-quality bases\">\n", &str);
+ if (!strstr(str.s, "##FORMAT=<ID=SP,"))
+ kputs("##FORMAT=<ID=SP,Number=1,Type=Integer,Description=\"Phred-scaled strand bias P-value\">\n", &str);
+ if (!strstr(str.s, "##FORMAT=<ID=PL,"))
+ kputs("##FORMAT=<ID=PL,Number=-1,Type=Integer,Description=\"List of Phred-scaled genotype likelihoods, number of values is (#ALT+1)*(#ALT+2)/2\">\n", &str);
+ h->l_txt = str.l + 1; h->txt = str.s;
+}
+
double bcf_ld_freq(const bcf1_t *b0, const bcf1_t *b1, double f[4]);
int bcfview(int argc, char *argv[])
{
extern int bcf_2qcall(bcf_hdr_t *h, bcf1_t *b);
extern void bcf_p1_indel_prior(bcf_p1aux_t *ma, double x);
+ extern int bcf_fix_gt(bcf1_t *b);
+ extern int bcf_anno_max(bcf1_t *b);
bcf_t *bp, *bout = 0;
bcf1_t *b, *blast;
int c;
uint64_t n_processed = 0;
viewconf_t vc;
bcf_p1aux_t *p1 = 0;
- bcf_hdr_t *h;
+ bcf_hdr_t *hin, *hout;
int tid, begin, end;
char moder[4], modew[4];
khash_t(set64) *hash = 0;
tid = begin = end = -1;
memset(&vc, 0, sizeof(viewconf_t));
vc.prior_type = vc.n1 = -1; vc.theta = 1e-3; vc.pref = 0.5; vc.indel_frac = -1.;
- while ((c = getopt(argc, argv, "fN1:l:cHAGvbSuP:t:p:QgLi:I")) >= 0) {
+ vc.n_sub = 0; vc.subsam = 0; vc.sublist = 0;
+ while ((c = getopt(argc, argv, "N1:l:cHAGvbSuP:t:p:QgLi:IMs:D:")) >= 0) {
switch (c) {
- case 'f': vc.flag |= VC_FOLDED; break;
case '1': vc.n1 = atoi(optarg); break;
case 'l': vc.fn_list = strdup(optarg); break;
+ case 'D': vc.fn_dict = strdup(optarg); break;
case 'N': vc.flag |= VC_ACGT_ONLY; break;
case 'G': vc.flag |= VC_NO_GENO; break;
case 'A': vc.flag |= VC_KEEPALT; break;
case 'H': vc.flag |= VC_HWE; break;
case 'g': vc.flag |= VC_CALL_GT | VC_CALL; break;
case 'I': vc.flag |= VC_NO_INDEL; break;
+ case 'M': vc.flag |= VC_ANNO_MAX; break;
case 't': vc.theta = atof(optarg); break;
case 'p': vc.pref = atof(optarg); break;
case 'i': vc.indel_frac = atof(optarg); break;
case 'Q': vc.flag |= VC_QCALL; break;
case 'L': vc.flag |= VC_ADJLD; break;
+ case 's': vc.subsam = read_samples(optarg, &vc.n_sub); break;
case 'P':
if (strcmp(optarg, "full") == 0) vc.prior_type = MC_PTYPE_FULL;
else if (strcmp(optarg, "cond2") == 0) vc.prior_type = MC_PTYPE_COND2;
fprintf(stderr, " -Q output the QCALL likelihood format\n");
fprintf(stderr, " -L calculate LD for adjacent sites\n");
fprintf(stderr, " -I skip indels\n");
- fprintf(stderr, " -f reference-free variant calling\n");
+ fprintf(stderr, " -D FILE sequence dictionary for VCF->BCF conversion [null]\n");
fprintf(stderr, " -1 INT number of group-1 samples [0]\n");
fprintf(stderr, " -l FILE list of sites to output [all sites]\n");
- fprintf(stderr, " -t FLOAT scaled substitution mutation rate [%.4lg]\n", vc.theta);
- fprintf(stderr, " -i FLOAT indel-to-substitution ratio [%.4lg]\n", vc.indel_frac);
- fprintf(stderr, " -p FLOAT variant if P(ref|D)<FLOAT [%.3lg]\n", vc.pref);
+ fprintf(stderr, " -t FLOAT scaled substitution mutation rate [%.4g]\n", vc.theta);
+ fprintf(stderr, " -i FLOAT indel-to-substitution ratio [%.4g]\n", vc.indel_frac);
+ fprintf(stderr, " -p FLOAT variant if P(ref|D)<FLOAT [%.3g]\n", vc.pref);
fprintf(stderr, " -P STR type of prior: full, cond2, flat [full]\n");
+ fprintf(stderr, " -s FILE list of samples to use [all samples]\n");
fprintf(stderr, "\n");
return 1;
}
+ if ((vc.flag & VC_VCFIN) && (vc.flag & VC_BCFOUT) && vc.fn_dict == 0) {
+ fprintf(stderr, "[%s] For VCF->BCF conversion please specify the sequence dictionary with -D\n", __func__);
+ return 1;
+ }
b = calloc(1, sizeof(bcf1_t));
blast = calloc(1, sizeof(bcf1_t));
strcpy(moder, "r");
if (vc.flag & VC_BCFOUT) strcat(modew, "b");
if (vc.flag & VC_UNCOMP) strcat(modew, "u");
bp = vcf_open(argv[optind], moder);
- h = vcf_hdr_read(bp);
+ hin = hout = vcf_hdr_read(bp);
+ if (vc.fn_dict && (vc.flag & VC_VCFIN))
+ vcf_dictread(bp, hin, vc.fn_dict);
bout = vcf_open("-", modew);
- if (!(vc.flag & VC_QCALL)) vcf_hdr_write(bout, h);
+ if (!(vc.flag & VC_QCALL)) {
+ if (vc.n_sub) {
+ vc.sublist = calloc(vc.n_sub, sizeof(int));
+ hout = bcf_hdr_subsam(hin, vc.n_sub, vc.subsam, vc.sublist);
+ }
+ if (vc.flag & VC_CALL) write_header(hout);
+ vcf_hdr_write(bout, hout);
+ }
if (vc.flag & VC_CALL) {
- p1 = bcf_p1_init(h->n_smpl);
+ p1 = bcf_p1_init(hout->n_smpl);
if (vc.prior_file) {
if (bcf_p1_read_prior(p1, vc.prior_file) < 0) {
fprintf(stderr, "[%s] fail to read the prior AFS.\n", __func__);
bcf_p1_init_subprior(p1, vc.prior_type, vc.theta);
}
if (vc.indel_frac > 0.) bcf_p1_indel_prior(p1, vc.indel_frac); // otherwise use the default indel_frac
- if (vc.flag & VC_FOLDED) bcf_p1_set_folded(p1);
}
- if (vc.fn_list) hash = bcf_load_pos(vc.fn_list, h);
+ if (vc.fn_list) hash = bcf_load_pos(vc.fn_list, hin);
if (optind + 1 < argc && !(vc.flag&VC_VCFIN)) {
- void *str2id = bcf_build_refhash(h);
+ void *str2id = bcf_build_refhash(hout);
if (bcf_parse_region(str2id, argv[optind+1], &tid, &begin, &end) >= 0) {
bcf_idx_t *idx;
idx = bcf_idx_load(argv[optind]);
}
}
}
- while (vcf_read(bp, h, b) > 0) {
- int is_indel = bcf_is_indel(b);
+ while (vcf_read(bp, hin, b) > 0) {
+ int is_indel;
+ if (vc.n_sub) bcf_subsam(vc.n_sub, vc.sublist, b);
+ is_indel = bcf_is_indel(b);
if ((vc.flag & VC_NO_INDEL) && is_indel) continue;
if ((vc.flag & VC_ACGT_ONLY) && !is_indel) {
int x;
}
++n_processed;
if (vc.flag & VC_QCALL) { // output QCALL format; STOP here
- bcf_2qcall(h, b);
+ bcf_2qcall(hout, b);
continue;
}
if (vc.flag & (VC_CALL|VC_ADJLD)) bcf_gl2pl(b);
bcf_p1_dump_afs(p1);
}
if (pr.p_ref >= vc.pref && (vc.flag & VC_VARONLY)) continue;
- update_bcf1(h->n_smpl, b, p1, &pr, vc.pref, vc.flag);
+ update_bcf1(hout->n_smpl, b, p1, &pr, vc.pref, vc.flag);
}
if (vc.flag & VC_ADJLD) { // compute LD
double f[4], r2;
kstring_t s;
s.m = s.l = 0; s.s = 0;
if (*b->info) kputc(';', &s);
- ksprintf(&s, "NEIR=%.3lf;NEIF=%.3lf,%.3lf", r2, f[0]+f[2], f[0]+f[1]);
+ ksprintf(&s, "NEIR=%.3f;NEIF=%.3f,%.3f", r2, f[0]+f[2], f[0]+f[1]);
bcf_append_info(b, s.s, s.l);
free(s.s);
}
bcf_cpy(blast, b);
}
+ if (vc.flag & VC_ANNO_MAX) bcf_anno_max(b);
if (vc.flag & VC_NO_GENO) { // do not output GENO fields
b->n_gi = 0;
b->fmt[0] = '\0';
- }
- vcf_write(bout, h, b);
+ b->l_str = b->fmt - b->str + 1;
+ } else bcf_fix_gt(b);
+ vcf_write(bout, hout, b);
}
if (vc.prior_file) free(vc.prior_file);
if (vc.flag & VC_CALL) bcf_p1_dump_afs(p1);
- bcf_hdr_destroy(h);
+ if (hin != hout) bcf_hdr_destroy(hout);
+ bcf_hdr_destroy(hin);
bcf_destroy(b); bcf_destroy(blast);
vcf_close(bp); vcf_close(bout);
if (hash) kh_destroy(set64, hash);
if (vc.fn_list) free(vc.fn_list);
+ if (vc.fn_dict) free(vc.fn_dict);
+ if (vc.n_sub) {
+ int i;
+ for (i = 0; i < vc.n_sub; ++i) free(vc.subsam[i]);
+ free(vc.subsam); free(vc.sublist);
+ }
if (p1) bcf_p1_destroy(p1);
return 0;
}
projects / samtools.git / blobdiff