X-Git-Url: https://git.donarmstrong.com/?a=blobdiff_plain;f=bcftools%2Fcall1.c;h=c722b355afd8752031044ef63f98e9eef7c2876e;hb=3f13738c659d0b49fe7ac99145cdc9fa2f507af4;hp=75483e921a9ee10c45bfe6e4acf8e2ad3261f42c;hpb=082c52f3cb5517db50987bf1dc43aef845c45fd8;p=samtools.git diff --git a/bcftools/call1.c b/bcftools/call1.c index 75483e9..c722b35 100644 --- a/bcftools/call1.c +++ b/bcftools/call1.c @@ -20,9 +20,10 @@ KSTREAM_INIT(gzFile, gzread, 16384) #define VC_VARONLY 16 #define VC_VCFIN 32 #define VC_UNCOMP 64 +#define VC_HWE 128 typedef struct { - int flag, prior_type; + int flag, prior_type, n1; char *fn_list, *prior_file; double theta, pref; } viewconf_t; @@ -140,14 +141,14 @@ static void rm_info(int n_smpl, bcf1_t *b, const char *key) bcf_sync(n_smpl, b); } -static int update_bcf1(int n_smpl, bcf1_t *b, const bcf_p1aux_t *pa, const bcf_p1rst_t *pr, double pref, int flag) +static int update_bcf1(int n_smpl, bcf1_t *b, const bcf_p1aux_t *pa, const bcf_p1rst_t *pr, double pref) { kstring_t s; int is_var = (pr->p_ref < pref); double p_hwe, r = is_var? pr->p_ref : 1. - pr->p_ref; anno16_t a; - p_hwe = test_hwe(pr->g); + p_hwe = pr->g[0] >= 0.? test_hwe(pr->g) : 1.0; // only do HWE g[] is calculated test16(b, &a); rm_info(n_smpl, b, "I16="); @@ -162,7 +163,8 @@ static int update_bcf1(int n_smpl, bcf1_t *b, const bcf_p1aux_t *pa, const bcf_p ksprintf(&s, "AF1=%.3lf;AFE=%.3lf", 1.-pr->f_em, 1.-pr->f_exp); ksprintf(&s, ";DP4=%d,%d,%d,%d;MQ=%d", a.d[0], a.d[1], a.d[2], a.d[3], a.mq); if (a.is_tested) ksprintf(&s, ";PV4=%.2lg,%.2lg,%.2lg,%.2lg", a.p[0], a.p[1], a.p[2], a.p[3]); - if (p_hwe <= .2) ksprintf(&s, ";GC=%.2lf,%.2lf,%.2lf;HWE=%.3lf", pr->g[2], pr->g[1], pr->g[0], p_hwe); + 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); kputc('\0', &s); kputs(b->fmt, &s); kputc('\0', &s); free(b->str); @@ -188,9 +190,10 @@ int bcfview(int argc, char *argv[]) tid = begin = end = -1; memset(&vc, 0, sizeof(viewconf_t)); - vc.prior_type = -1; vc.theta = 1e-3; vc.pref = 0.9; - while ((c = getopt(argc, argv, "l:cGvLbSuP:t:p:")) >= 0) { + vc.prior_type = vc.n1 = -1; vc.theta = 1e-3; vc.pref = 0.9; + while ((c = getopt(argc, argv, "1:l:cHGvLbSuP:t:p:")) >= 0) { switch (c) { + case '1': vc.n1 = atoi(optarg); break; case 'l': vc.fn_list = strdup(optarg); break; case 'G': vc.flag |= VC_NO_GENO; break; case 'L': vc.flag |= VC_NO_PL; break; @@ -199,6 +202,7 @@ int bcfview(int argc, char *argv[]) case 'c': vc.flag |= VC_CALL; break; case 'v': vc.flag |= VC_VARONLY; break; case 'u': vc.flag |= VC_UNCOMP | VC_BCFOUT; break; + case 'H': vc.flag |= VC_HWE; break; case 't': vc.theta = atof(optarg); break; case 'p': vc.pref = atof(optarg); break; case 'P': @@ -218,6 +222,7 @@ int bcfview(int argc, char *argv[]) fprintf(stderr, " -S input is VCF\n"); fprintf(stderr, " -G suppress all individual genotype information\n"); fprintf(stderr, " -L discard the PL genotype field\n"); + fprintf(stderr, " -H perform Hardy-Weinberg test (slower)\n"); fprintf(stderr, " -v output potential variant sites only\n"); fprintf(stderr, " -l FILE list of sites to output [all sites]\n"); fprintf(stderr, " -t FLOAT scaled mutation rate [%.4lg]\n", vc.theta); @@ -245,6 +250,7 @@ int bcfview(int argc, char *argv[]) return 1; } } else bcf_p1_init_prior(p1, vc.prior_type, vc.theta); + if (vc.n1 > 0) bcf_p1_set_n1(p1, vc.n1); } if (vc.fn_list) hash = bcf_load_pos(vc.fn_list, h); if (optind + 1 < argc && !(vc.flag&VC_VCFIN)) { @@ -274,10 +280,11 @@ int bcfview(int argc, char *argv[]) } if (vc.flag & VC_CALL) { bcf_p1rst_t pr; - bcf_p1_cal(b, p1, &pr); + bcf_p1_cal(b, p1, &pr); // pr.g[3] is not calculated here + if (vc.flag&VC_HWE) bcf_p1_cal_g3(p1, pr.g); if ((n_processed + 1) % 50000 == 0) 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(h->n_smpl, b, p1, &pr, vc.pref); } if (vc.flag & VC_NO_GENO) { b->n_gi = 0;