#include "kstring.h"
#include "time.h"
-#include "khash.h"
-KHASH_SET_INIT_INT64(set64)
-
#include "kseq.h"
KSTREAM_INIT(gzFile, gzread, 16384)
typedef struct {
int flag, prior_type, n1, n_sub, *sublist, n_perm;
- char *fn_list, *prior_file, **subsam, *fn_dict;
+ char *prior_file, **subsam, *fn_dict;
uint8_t *ploidy;
double theta, pref, indel_frac, min_perm_p, min_smpl_frac;
+ void *bed;
} viewconf_t;
-khash_t(set64) *bcf_load_pos(const char *fn, bcf_hdr_t *_h)
-{
- void *str2id;
- gzFile fp;
- kstream_t *ks;
- int ret, dret, lineno = 1;
- kstring_t *str;
- khash_t(set64) *hash = 0;
+void *bed_read(const char *fn);
+void bed_destroy(void *_h);
+int bed_overlap(const void *_h, const char *chr, int beg, int end);
- hash = kh_init(set64);
- str2id = bcf_build_refhash(_h);
- str = calloc(1, sizeof(kstring_t));
- fp = strcmp(fn, "-")? gzopen(fn, "r") : gzdopen(fileno(stdin), "r");
- ks = ks_init(fp);
- while (ks_getuntil(ks, 0, str, &dret) >= 0) {
- int tid = bcf_str2id(str2id, str->s);
- if (tid >= 0 && dret != '\n') {
- if (ks_getuntil(ks, 0, str, &dret) >= 0) {
- uint64_t x = (uint64_t)tid<<32 | (atoi(str->s) - 1);
- kh_put(set64, hash, x, &ret);
- } else break;
- } else fprintf(stderr, "[%s] %s is not a reference name (line %d).\n", __func__, str->s, lineno);
- if (dret != '\n') while ((dret = ks_getc(ks)) > 0 && dret != '\n');
- if (dret < 0) break;
- ++lineno;
- }
- bcf_str2id_destroy(str2id);
- ks_destroy(ks);
- gzclose(fp);
- free(str->s); free(str);
- return hash;
+static double test_hwe(const double g[3])
+{
+ extern double kf_gammaq(double p, double x);
+ double fexp, chi2, f[3], n;
+ int i;
+ n = g[0] + g[1] + g[2];
+ fexp = (2. * g[2] + g[1]) / (2. * n);
+ if (fexp > 1. - 1e-10) fexp = 1. - 1e-10;
+ if (fexp < 1e-10) fexp = 1e-10;
+ f[0] = n * (1. - fexp) * (1. - fexp);
+ f[1] = n * 2. * fexp * (1. - fexp);
+ f[2] = n * fexp * fexp;
+ for (i = 0, chi2 = 0.; i < 3; ++i)
+ chi2 += (g[i] - f[i]) * (g[i] - f[i]) / f[i];
+ return kf_gammaq(.5, chi2 / 2.);
}
typedef struct {
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=%.4g;CI95=%.4g,%.4g", 1.-pr->f_em, pr->cil, pr->cih);
+ ksprintf(&s, "AF1=%.4g;CI95=%.4g,%.4g;G3=%.4g,%.4g,%.4g", 1.-pr->f_em, pr->cil, pr->cih, pr->g[2], pr->g[1], pr->g[0]);
+ if (n_smpl > 5) {
+ double hwe = test_hwe(pr->g);
+ if (hwe < 0.1) ksprintf(&s, ";HWE=%.4g", hwe);
+ }
if (has_I16) 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 (pr->cmp[0] >= 0.) {
+ if (pr->cmp[0] >= 0.) { // two sample groups
int i, q[3], pq;
for (i = 1; i < 3; ++i) {
double x = pr->cmp[i] + pr->cmp[0]/2.;
pq = (int)(-4.343 * log(pr->p_chi2) + .499);
if (pr->perm_rank >= 0) ksprintf(&s, ";PR=%d", pr->perm_rank);
ksprintf(&s, ";QCHI2=%d;PCHI2=%.3g;PC2=%d,%d", pq, q[1], q[2], pr->p_chi2);
+ ksprintf(&s, ";AF2=%.4g,%.4g", 1.-pr->f_em2[0], 1.-pr->f_em2[1]);
// ksprintf(&s, ",%g,%g,%g", pr->cmp[0], pr->cmp[1], pr->cmp[2]);
}
if (has_I16 && a.is_tested) ksprintf(&s, ";PV4=%.2g,%.2g,%.2g,%.2g", a.p[0], a.p[1], a.p[2], a.p[3]);
kputs("##INFO=<ID=FQ,Number=1,Type=Float,Description=\"Phred probability of all samples being 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=G3,"))
+ kputs("##INFO=<ID=G3,Number=3,Type=Float,Description=\"ML estimate of genotype frequencies\">\n", &str);
+ if (!strstr(str.s, "##INFO=<ID=HWE,"))
+ kputs("##INFO=<ID=HWE,Number=1,Type=Float,Description=\"Chi^2 based HWE test P-value based on G3\">\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,"))
if (!strstr(str.s, "##INFO=<ID=QCHI2,"))
kputs("##INFO=<ID=QCHI2,Number=1,Type=Integer,Description=\"Phred scaled PCHI2.\">\n", &str);
if (!strstr(str.s, "##INFO=<ID=RP,"))
- kputs("##INFO=<ID=RP,Number=1,Type=Integer,Description=\"# permutations yielding a smaller PCHI2.\">\n", &str);
+ kputs("##INFO=<ID=PR,Number=1,Type=Integer,Description=\"# permutations yielding a smaller PCHI2.\">\n", &str);
if (!strstr(str.s, "##FORMAT=<ID=GT,"))
kputs("##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">\n", &str);
if (!strstr(str.s, "##FORMAT=<ID=GQ,"))
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));
while ((c = getopt(argc, argv, "FN1:l:cHAGvbSuP:t:p:QgLi:IMs:D:U:X:d:")) >= 0) {
switch (c) {
case '1': vc.n1 = atoi(optarg); break;
- case 'l': vc.fn_list = strdup(optarg); break;
+ case 'l': vc.bed = bed_read(optarg); break;
case 'D': vc.fn_dict = strdup(optarg); break;
case 'F': vc.flag |= VC_FIX_PL; break;
case 'N': vc.flag |= VC_ACGT_ONLY; break;
}
if (argc == optind) {
fprintf(stderr, "\n");
- fprintf(stderr, "Usage: bcftools view [options] <in.bcf> [reg]\n\n");
- fprintf(stderr, "Options: -c SNP calling\n");
- fprintf(stderr, " -v output potential variant sites only (force -c)\n");
- fprintf(stderr, " -g call genotypes at variant sites (force -c)\n");
- fprintf(stderr, " -b output BCF instead of VCF\n");
- fprintf(stderr, " -u uncompressed BCF output (force -b)\n");
- fprintf(stderr, " -S input is VCF\n");
- fprintf(stderr, " -A keep all possible alternate alleles at variant sites\n");
- fprintf(stderr, " -G suppress all individual genotype information\n");
- fprintf(stderr, " -N skip sites where REF is not A/C/G/T\n");
- 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 PL generated by r921 or before\n");
- fprintf(stderr, " -d FLOAT skip loci where less than FLOAT fraction of samples covered [0]\n");
- fprintf(stderr, " -D FILE sequence dictionary for VCF->BCF conversion [null]\n");
- fprintf(stderr, " -l FILE list of sites to output [all sites]\n");
- 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, " -1 INT number of group-1 samples [0]\n");
- fprintf(stderr, " -U INT number of permutations for association testing (effective with -1) [0]\n");
- fprintf(stderr, " -X FLOAT only perform permutations for P(chi^2)<FLOAT [%g]\n", vc.min_perm_p);
+ fprintf(stderr, "Usage: bcftools view [options] <in.bcf> [reg]\n\n");
+ fprintf(stderr, "Input/output options:\n\n");
+ fprintf(stderr, " -A keep all possible alternate alleles at variant sites\n");
+ fprintf(stderr, " -b output BCF instead of VCF\n");
+ fprintf(stderr, " -D FILE sequence dictionary for VCF->BCF conversion [null]\n");
+ fprintf(stderr, " -F PL generated by r921 or before (which generate old ordering)\n");
+ fprintf(stderr, " -G suppress all individual genotype information\n");
+ fprintf(stderr, " -l FILE list of sites (chr pos) or regions (BED) to output [all sites]\n");
+ fprintf(stderr, " -L calculate LD for adjacent sites\n");
+ fprintf(stderr, " -N skip sites where REF is not A/C/G/T\n");
+ fprintf(stderr, " -Q output the QCALL likelihood format\n");
+ fprintf(stderr, " -s FILE list of samples to use [all samples]\n");
+ fprintf(stderr, " -S input is VCF\n");
+ fprintf(stderr, " -u uncompressed BCF output (force -b)\n");
+ fprintf(stderr, "\nConsensus/variant calling options:\n\n");
+ fprintf(stderr, " -c SNP calling\n");
+ fprintf(stderr, " -d FLOAT skip loci where less than FLOAT fraction of samples covered [0]\n");
+ fprintf(stderr, " -g call genotypes at variant sites (force -c)\n");
+ fprintf(stderr, " -i FLOAT indel-to-substitution ratio [%.4g]\n", vc.indel_frac);
+ fprintf(stderr, " -I skip indels\n");
+ 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, " -t FLOAT scaled substitution mutation rate [%.4g]\n", vc.theta);
+ fprintf(stderr, " -v output potential variant sites only (force -c)\n");
+ fprintf(stderr, "\nContrast calling and association test options:\n\n");
+ fprintf(stderr, " -1 INT number of group-1 samples [0]\n");
+ fprintf(stderr, " -U INT number of permutations for association testing (effective with -1) [0]\n");
+ fprintf(stderr, " -X FLOAT only perform permutations for P(chi^2)<FLOAT [%g]\n", vc.min_perm_p);
fprintf(stderr, "\n");
return 1;
}
}
if (vc.indel_frac > 0.) bcf_p1_indel_prior(p1, vc.indel_frac); // otherwise use the default indel_frac
}
- 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(hout);
if (bcf_parse_region(str2id, argv[optind+1], &tid, &begin, &end) >= 0) {
x = toupper(b->ref[0]);
if (x != 'A' && x != 'C' && x != 'G' && x != 'T') continue;
}
- if (hash) {
- uint64_t x = (uint64_t)b->tid<<32 | b->pos;
- khint_t k = kh_get(set64, hash, x);
- if (kh_size(hash) == 0) break;
- if (k == kh_end(hash)) continue;
- kh_del(set64, hash, k);
- }
+ if (vc.bed && !bed_overlap(vc.bed, hin->ns[b->tid], b->pos, b->pos + strlen(b->ref))) continue;
if (tid >= 0) {
int l = strlen(b->ref);
l = b->pos + (l > 0? l : 1);
kstring_t s;
s.m = s.l = 0; s.s = 0;
if (*b->info) kputc(';', &s);
- ksprintf(&s, "NEIR=%.3f;NEIF=%.3f,%.3f", r2, f[0]+f[2], f[0]+f[1]);
+ ksprintf(&s, "NEIR=%.3f;NEIF4=%.3f,%.3f,%.3f,%.3f", r2, f[0], f[1], f[2], f[3]);
bcf_append_info(b, s.s, s.l);
free(s.s);
}
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.ploidy) free(vc.ploidy);
if (vc.n_sub) {
for (i = 0; i < vc.n_sub; ++i) free(vc.subsam[i]);
free(vc.subsam); free(vc.sublist);
}
+ if (vc.bed) bed_destroy(vc.bed);
if (seeds) free(seeds);
if (p1) bcf_p1_destroy(p1);
return 0;
projects / samtools.git / blobdiff