X-Git-Url: https://git.donarmstrong.com/?a=blobdiff_plain;f=bam_maqcns.c;h=9a25380f36b77411ecc34336b5a92fe2d2f734d4;hb=efa4a1055d7691e3cd1368dcafa210c2691a5fd2;hp=3b49020a81a9ccca89c45745f60605df3cc89661;hpb=0cccdf52e31ea7bde0eb8aa4e9b6c7f05c3dc1b7;p=samtools.git diff --git a/bam_maqcns.c b/bam_maqcns.c index 3b49020..9a25380 100644 --- a/bam_maqcns.c +++ b/bam_maqcns.c @@ -25,14 +25,13 @@ char bam_nt16_nt4_table[] = { 4, 0, 1, 4, 2, 4, 4, 4, 3, 4, 4, 4, 4, 4, 4, 4 }; /* P() = \theta \sum_{i=1}^{N-1} 1/i P(D|) = \sum_{k=1}^{N-1} p_k 1/2 [(k/N)^n_2(1-k/N)^n_1 + (k/N)^n1(1-k/N)^n_2] - p_k = i/k / \sum_{i=1}^{N-1} 1/i + p_k = 1/k / \sum_{i=1}^{N-1} 1/i */ static void cal_het(bam_maqcns_t *aa) { int k, n1, n2; double sum_harmo; // harmonic sum double poly_rate; - double p1 = 0.0, p3 = 0.0; // just for testing free(aa->lhet); aa->lhet = (double*)calloc(256 * 256, sizeof(double)); @@ -42,7 +41,7 @@ static void cal_het(bam_maqcns_t *aa) for (n1 = 0; n1 < 256; ++n1) { for (n2 = 0; n2 < 256; ++n2) { long double sum = 0.0; - double lC = lgamma(n1+n2+1) - lgamma(n1+1) - lgamma(n2+1); // \binom{n1+n2}{n1} + double lC = aa->is_soap? 0 : lgamma(n1+n2+1) - lgamma(n1+1) - lgamma(n2+1); // \binom{n1+n2}{n1} for (k = 1; k <= aa->n_hap - 1; ++k) { double pk = 1.0 / k / sum_harmo; double log1 = log((double)k/aa->n_hap); @@ -50,8 +49,6 @@ static void cal_het(bam_maqcns_t *aa) sum += pk * 0.5 * (expl(log1*n2) * expl(log2*n1) + expl(log1*n1) * expl(log2*n2)); } aa->lhet[n1<<8|n2] = lC + logl(sum); - if (n1 == 17 && n2 == 3) p3 = lC + logl(expl(logl(0.5) * 20)); - if (n1 == 19 && n2 == 1) p1 = lC + logl(expl(logl(0.5) * 20)); } } poly_rate = aa->het_rate * sum_harmo; @@ -65,16 +62,18 @@ static void cal_coef(bam_maqcns_t *aa) long double sum_a[257], b[256], q_c[256], tmp[256], fk2[256]; double *lC; - lC = (double*)calloc(256 * 256, sizeof(double)); // aa->lhet will be allocated and initialized free(aa->fk); free(aa->coef); + aa->coef = 0; aa->fk = (double*)calloc(256, sizeof(double)); - aa->coef = (double*)calloc(256*256*64, sizeof(double)); aa->fk[0] = fk2[0] = 1.0; for (n = 1; n != 256; ++n) { aa->fk[n] = pow(aa->theta, n) * (1.0 - aa->eta) + aa->eta; fk2[n] = aa->fk[n>>1]; // this is an approximation, assuming reads equally likely come from both strands } + if (aa->is_soap) return; + aa->coef = (double*)calloc(256*256*64, sizeof(double)); + lC = (double*)calloc(256 * 256, sizeof(double)); for (n = 1; n != 256; ++n) for (k = 1; k <= n; ++k) lC[n<<8|k] = lgamma(n+1) - lgamma(k+1) - lgamma(n-k+1); @@ -183,56 +182,73 @@ glf1_t *bam_maqcns_glfgen(int _n, const bam_pileup1_t *pl, uint8_t ref_base, bam for (j = 0; j != 4; ++j) b->c[j] = (int)(254.0 * b->c[j] / c + 0.5); for (j = c = 0; j != 4; ++j) c += b->c[j]; } - // generate likelihood - for (j = 0; j != 4; ++j) { - // homozygous - float tmp1, tmp3; - int tmp2, bar_e; - for (k = 0, tmp1 = tmp3 = 0.0, tmp2 = 0; k != 4; ++k) { - if (j == k) continue; - tmp1 += b->esum[k]; tmp2 += b->c[k]; tmp3 += b->fsum[k]; - } - if (tmp2) { - bar_e = (int)(tmp1 / tmp3 + 0.5); - if (bar_e < 4) bar_e = 4; // should not happen - if (bar_e > 63) bar_e = 63; - p[j<<2|j] = tmp1 + bm->coef[bar_e<<16|c<<8|tmp2]; - } else p[j<<2|j] = 0.0; // all the bases are j - // heterozygous - for (k = j + 1; k < 4; ++k) { - for (i = 0, tmp2 = 0, tmp1 = tmp3 = 0.0; i != 4; ++i) { - if (i == j || i == k) continue; - tmp1 += b->esum[i]; tmp2 += b->c[i]; tmp3 += b->fsum[i]; + if (!bm->is_soap) { + // generate likelihood + for (j = 0; j != 4; ++j) { + // homozygous + float tmp1, tmp3; + int tmp2, bar_e; + for (k = 0, tmp1 = tmp3 = 0.0, tmp2 = 0; k != 4; ++k) { + if (j == k) continue; + tmp1 += b->esum[k]; tmp2 += b->c[k]; tmp3 += b->fsum[k]; } if (tmp2) { bar_e = (int)(tmp1 / tmp3 + 0.5); - if (bar_e < 4) bar_e = 4; + if (bar_e < 4) bar_e = 4; // should not happen if (bar_e > 63) bar_e = 63; - p[j<<2|k] = p[k<<2|j] = -4.343 * bm->lhet[b->c[j]<<8|b->c[k]] + tmp1 + bm->coef[bar_e<<16|c<<8|tmp2]; - } else p[j<<2|k] = p[k<<2|j] = -4.343 * bm->lhet[b->c[j]<<8|b->c[k]]; // all the bases are either j or k + p[j<<2|j] = tmp1 + bm->coef[bar_e<<16|c<<8|tmp2]; + } else p[j<<2|j] = 0.0; // all the bases are j + // heterozygous + for (k = j + 1; k < 4; ++k) { + for (i = 0, tmp2 = 0, tmp1 = tmp3 = 0.0; i != 4; ++i) { + if (i == j || i == k) continue; + tmp1 += b->esum[i]; tmp2 += b->c[i]; tmp3 += b->fsum[i]; + } + if (tmp2) { + bar_e = (int)(tmp1 / tmp3 + 0.5); + if (bar_e < 4) bar_e = 4; + if (bar_e > 63) bar_e = 63; + p[j<<2|k] = p[k<<2|j] = -4.343 * bm->lhet[b->c[j]<<8|b->c[k]] + tmp1 + bm->coef[bar_e<<16|c<<8|tmp2]; + } else p[j<<2|k] = p[k<<2|j] = -4.343 * bm->lhet[b->c[j]<<8|b->c[k]]; // all the bases are either j or k + } + // + for (k = 0; k != 4; ++k) + if (p[j<<2|k] < 0.0) p[j<<2|k] = 0.0; } - // - for (k = 0; k != 4; ++k) - if (p[j<<2|k] < 0.0) p[j<<2|k] = 0.0; - } - { // fix p[k<<2|k] - float max1, max2, min1, min2; - int max_k, min_k; - max_k = min_k = -1; - max1 = max2 = -1.0; min1 = min2 = 1e30; - for (k = 0; k < 4; ++k) { - if (b->esum[k] > max1) { - max2 = max1; max1 = b->esum[k]; max_k = k; - } else if (b->esum[k] > max2) max2 = b->esum[k]; + { // fix p[k<<2|k] + float max1, max2, min1, min2; + int max_k, min_k; + max_k = min_k = -1; + max1 = max2 = -1.0; min1 = min2 = 1e30; + for (k = 0; k < 4; ++k) { + if (b->esum[k] > max1) { + max2 = max1; max1 = b->esum[k]; max_k = k; + } else if (b->esum[k] > max2) max2 = b->esum[k]; + } + for (k = 0; k < 4; ++k) { + if (p[k<<2|k] < min1) { + min2 = min1; min1 = p[k<<2|k]; min_k = k; + } else if (p[k<<2|k] < min2) min2 = p[k<<2|k]; + } + if (max1 > max2 && (min_k != max_k || min1 + 1.0 > min2)) + p[max_k<<2|max_k] = min1 > 1.0? min1 - 1.0 : 0.0; } - for (k = 0; k < 4; ++k) { - if (p[k<<2|k] < min1) { - min2 = min1; min1 = p[k<<2|k]; min_k = k; - } else if (p[k<<2|k] < min2) min2 = p[k<<2|k]; + } else { // apply the SOAP model + // generate likelihood + for (j = 0; j != 4; ++j) { + float tmp; + // homozygous + for (k = 0, tmp = 0.0; k != 4; ++k) + if (j != k) tmp += b->esum[k]; + p[j<<2|j] = tmp; + // heterozygous + for (k = j + 1; k < 4; ++k) { + for (i = 0, tmp = 0.0; i != 4; ++i) + if (i != j && i != k) tmp += b->esum[i]; + p[j<<2|k] = p[k<<2|j] = -4.343 * bm->lhet[b->c[j]<<8|b->c[k]] + tmp; + } } - if (max1 > max2 && (min_k != max_k || min1 + 1.0 > min2)) - p[max_k<<2|max_k] = min1 > 1.0? min1 - 1.0 : 0.0; } // convert necessary information to glf1_t @@ -383,6 +399,10 @@ bam_maqindel_ret_t *bam_maqindel(int n, int pos, const bam_maqindel_opt_t *mi, c left = pos > INDEL_WINDOW_SIZE? pos - INDEL_WINDOW_SIZE : 0; right = pos + INDEL_WINDOW_SIZE; if (types[0] < 0) right -= types[0]; + // in case the alignments stand out the reference + for (i = pos; i < right; ++i) + if (ref[i] == 0) break; + right = i; } { // the core part char *ref2, *rs, *inscns = 0; @@ -426,12 +446,18 @@ bam_maqindel_ret_t *bam_maqindel(int n, int pos, const bam_maqindel_opt_t *mi, c for (i = 0; i < n_types; ++i) { ka_param_t ap = ka_param_blast; ap.band_width = 2 * types[n_types - 1] + 2; + ap.gap_end = 0; // write ref2 for (k = 0, j = left; j <= pos; ++j) ref2[k++] = bam_nt16_nt4_table[bam_nt16_table[(int)ref[j]]]; if (types[i] <= 0) j += -types[i]; else for (l = 0; l < types[i]; ++l) ref2[k++] = bam_nt16_nt4_table[(int)inscns[i*max_ins + l]]; + if (types[0] < 0) { // mask deleted sequences + int jj, tmp = types[i] >= 0? -types[0] : -types[0] + types[i]; + for (jj = 0; jj < tmp && j < right && ref[j]; ++jj, ++j) + ref2[k++] = 4; + } for (; j < right && ref[j]; ++j) ref2[k++] = bam_nt16_nt4_table[bam_nt16_table[(int)ref[j]]]; if (j < right) right = j; @@ -462,22 +488,26 @@ bam_maqindel_ret_t *bam_maqindel(int n, int pos, const bam_maqindel_opt_t *mi, c if (op == BAM_CMATCH) { int k; for (k = 0; k < len; ++k) - if (ref2[x+k] != rs[y+k]) ps += bam1_qual(p->b)[y+k]; + if (ref2[x+k] != rs[y+k] && ref2[x+k] < 4) ps += bam1_qual(p->b)[y+k]; x += len; y += len; } else if (op == BAM_CINS || op == BAM_CSOFT_CLIP) { - if (op == BAM_CINS) ps += mi->q_indel * len; + if (op == BAM_CINS && l > 0 && l < n_acigar - 1) ps += mi->q_indel * len; y += len; } else if (op == BAM_CDEL) { - ps += mi->q_indel * len; + if (l > 0 && l < n_acigar - 1) ps += mi->q_indel * len; x += len; } } pscore[i*n+j] = ps; - /*if (pos == 2618517) { // for debugging only - fprintf(stderr, "pos=%d, type=%d, j=%d, score=%d, psore=%d, %d, %d, %d, %d, ", pos+1, types[i], j, score[i*n+j], pscore[i*n+j], tbeg, tend, qbeg, qend); - for (l = 0; l < n_acigar; ++l) fprintf(stderr, "%d%c", acigar[l]>>4, "MIDS"[acigar[l]&0xf]); fprintf(stderr, "\n"); - for (l = 0; l < tend - tbeg + types[i]; ++l) fputc("ACGTN"[ref2[l]], stderr); fputc('\n', stderr); - for (l = 0; l < qend - qbeg; ++l) fputc("ACGTN"[rs[l]], stderr); fputc('\n', stderr); + /*if (1) { // for debugging only + fprintf(stderr, "id=%d, pos=%d, type=%d, j=%d, score=%d, psore=%d, %d, %d, %d, %d, %d, ", + j, pos+1, types[i], j, score[i*n+j], pscore[i*n+j], tbeg, tend, qbeg, qend, mi->q_indel); + for (l = 0; l < n_acigar; ++l) fprintf(stderr, "%d%c", acigar[l]>>4, "MIDS"[acigar[l]&0xf]); + fprintf(stderr, "\n"); + for (l = 0; l < tend - tbeg + types[i]; ++l) fputc("ACGTN"[ref2[l+tbeg-left]], stderr); + fputc('\n', stderr); + for (l = 0; l < qend - qbeg; ++l) fputc("ACGTN"[rs[l]], stderr); + fputc('\n', stderr); }*/ free(acigar); } @@ -540,7 +570,7 @@ bam_maqindel_ret_t *bam_maqindel(int n, int pos, const bam_maqindel_opt_t *mi, c ret->gl[0] = ret->gl[1] = 0; for (j = 0; j < n; ++j) { int s1 = pscore[max1_i*n + j], s2 = pscore[max2_i*n + j]; - //printf("%d, %d, %d, %d, %d\n", pl[j].b->core.pos+1, max1_i, max2_i, s1, s2); + //fprintf(stderr, "id=%d, %d, %d, %d, %d, %d\n", j, pl[j].b->core.pos+1, types[max1_i], types[max2_i], s1, s2); if (s1 > s2) ret->gl[0] += s1 - s2 < seq_err? s1 - s2 : seq_err; else ret->gl[1] += s2 - s1 < seq_err? s2 - s1 : seq_err; }