X-Git-Url: https://git.donarmstrong.com/?a=blobdiff_plain;f=bcftools%2Fcall1.c;h=9c0b498c18cb46e2dd673f0527f7c02d2e76dc3d;hb=f528e7da717a1a2a6ab2672c7c55f37d315452f3;hp=286c0141856f0f7f2bac22f4e7f8ab80f52afa2c;hpb=727b8c146c0146f6c43b2a7ab75c4c7bc3f91eef;p=samtools.git diff --git a/bcftools/call1.c b/bcftools/call1.c index 286c014..9c0b498 100644 --- a/bcftools/call1.c +++ b/bcftools/call1.c @@ -19,7 +19,6 @@ KSTREAM_INIT(gzFile, gzread, 16384) #define VC_VARONLY 16 #define VC_VCFIN 32 #define VC_UNCOMP 64 -#define VC_HWE 128 #define VC_KEEPALT 256 #define VC_ACGT_ONLY 512 #define VC_QCALL 1024 @@ -31,6 +30,7 @@ KSTREAM_INIT(gzFile, gzread, 16384) typedef struct { int flag, prior_type, n1, n_sub, *sublist; char *fn_list, *prior_file, **subsam, *fn_dict; + uint8_t *ploidy; double theta, pref, indel_frac; } viewconf_t; @@ -67,23 +67,6 @@ khash_t(set64) *bcf_load_pos(const char *fn, bcf_hdr_t *_h) 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 { double p[4]; int mq, depth, is_tested, d[4]; @@ -151,10 +134,9 @@ static int update_bcf1(int n_smpl, bcf1_t *b, const bcf_p1aux_t *pa, const bcf_p { kstring_t s; int is_var = (pr->p_ref < pref); - double p_hwe, r = is_var? pr->p_ref : pr->p_var, fq; + double 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 test16(b, &a); rm_info(b, "I16="); @@ -174,8 +156,6 @@ static int update_bcf1(int n_smpl, bcf1_t *b, const bcf_p1aux_t *pa, const bcf_p 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=%.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); @@ -214,11 +194,24 @@ static char **read_samples(const char *fn, int *_n) if (fp == 0) return 0; // fail to open file ks = ks_init(fp); while (ks_getuntil(ks, 0, &s, &dret) >= 0) { + int l; if (max == n) { max = max? max<<1 : 4; sam = realloc(sam, sizeof(void*)*max); } - sam[n++] = strdup(s.s); + l = s.l; + sam[n] = malloc(s.l + 2); + strcpy(sam[n], s.s); + sam[n][l+1] = 2; // by default, diploid + if (dret != '\n') { + if (ks_getuntil(ks, 0, &s, &dret) >= 0) { // read ploidy, 1 or 2 + int x = (int)s.s[0] - '0'; + if (x == 1 || x == 2) sam[n][l+1] = x; + else fprintf(stderr, "(%s) ploidy can only be 1 or 2; assume diploid\n", __func__); + } + if (dret != '\n') ks_getuntil(ks, '\n', &s, &dret); + } + ++n; } ks_destroy(ks); gzclose(fp); @@ -285,7 +278,6 @@ int bcfview(int argc, char *argv[]) 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.; - 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 '1': vc.n1 = atoi(optarg); break; @@ -299,7 +291,6 @@ int bcfview(int argc, char *argv[]) case 'c': vc.flag |= VC_CALL; break; case 'v': vc.flag |= VC_VARONLY | VC_CALL; break; case 'u': vc.flag |= VC_UNCOMP | VC_BCFOUT; 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; @@ -308,7 +299,11 @@ int bcfview(int argc, char *argv[]) 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 's': vc.subsam = read_samples(optarg, &vc.n_sub); + vc.ploidy = calloc(vc.n_sub + 1, 1); + for (tid = 0; tid < vc.n_sub; ++tid) vc.ploidy[tid] = vc.subsam[tid][strlen(vc.subsam[tid]) + 1]; + tid = -1; + 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; @@ -370,7 +365,7 @@ int bcfview(int argc, char *argv[]) vcf_hdr_write(bout, hout); } if (vc.flag & VC_CALL) { - p1 = bcf_p1_init(hout->n_smpl); + p1 = bcf_p1_init(hout->n_smpl, vc.ploidy); 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__); @@ -434,7 +429,6 @@ int bcfview(int argc, char *argv[]) if (vc.flag & VC_CALL) { // call variants bcf_p1rst_t 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 % 100000 == 0) { fprintf(stderr, "[%s] %ld sites processed.\n", __func__, (long)n_processed); bcf_p1_dump_afs(p1); @@ -471,6 +465,7 @@ int bcfview(int argc, char *argv[]) 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) { int i; for (i = 0; i < vc.n_sub; ++i) free(vc.subsam[i]);