X-Git-Url: https://git.donarmstrong.com/?a=blobdiff_plain;f=bam2bcf.c;h=1f7a0c042b2dad49abe5bb9d1668d90ddc96edf5;hb=f27c5d351576e00cece3708adcb386da61fe7b7f;hp=a78e7d282c8ff2280a819ca32570a107a076d32a;hpb=67184476fcd4a7aba449556a2333586465fd6102;p=samtools.git diff --git a/bam2bcf.c b/bam2bcf.c index a78e7d2..1f7a0c0 100644 --- a/bam2bcf.c +++ b/bam2bcf.c @@ -3,7 +3,9 @@ #include "bam.h" #include "kstring.h" #include "bam2bcf.h" -#include "bcf.h" +#include "bcftools/bcf.h" + +#define END_DIST_THRES 11 extern void ks_introsort_uint32_t(size_t n, uint32_t a[]); @@ -12,18 +14,19 @@ extern void ks_introsort_uint32_t(size_t n, uint32_t a[]); #define CALL_DEFTHETA 0.85f struct __bcf_callaux_t { - int max_info, capQ; + int max_info, capQ, min_baseQ; double *fk; uint32_t *info; }; -bcf_callaux_t *bcf_call_init(double theta) +bcf_callaux_t *bcf_call_init(double theta, int min_baseQ) { bcf_callaux_t *bca; int n; if (theta <= 0.) theta = CALL_DEFTHETA; bca = calloc(1, sizeof(bcf_callaux_t)); bca->capQ = 60; + bca->min_baseQ = min_baseQ; bca->fk = calloc(CALL_MAX, sizeof(double)); bca->fk[0] = 1.; for (n = 1; n < CALL_MAX; ++n) @@ -40,8 +43,8 @@ void bcf_call_destroy(bcf_callaux_t *bca) } typedef struct { - float esum[4], fsum[4]; - uint32_t c[4]; + float esum[5], fsum[5]; + uint32_t c[5]; int w[8]; } auxaux_t; @@ -70,11 +73,12 @@ typedef struct { */ int bcf_call_glfgen(int _n, const bam_pileup1_t *pl, int ref_base /*4-bit*/, bcf_callaux_t *bca, bcf_callret1_t *r) { - int i, j, k, c, n; + int i, j, k, c, n, ref4; float *p = r->p; auxaux_t aux; memset(r, 0, sizeof(bcf_callret1_t)); + ref4 = bam_nt16_nt4_table[ref_base]; if (_n == 0) return -1; // enlarge the aux array if necessary @@ -87,16 +91,25 @@ int bcf_call_glfgen(int _n, const bam_pileup1_t *pl, int ref_base /*4-bit*/, bcf for (i = n = 0; i < _n; ++i) { const bam_pileup1_t *p = pl + i; uint32_t q, x = 0, qq; + int min_dist; if (p->is_del || (p->b->core.flag&BAM_FUNMAP)) continue; // skip unmapped reads and deleted bases q = (uint32_t)bam1_qual(p->b)[p->qpos]; // base quality + if (q < bca->min_baseQ) continue; x |= (uint32_t)bam1_strand(p->b) << 18 | q << 8 | p->b->core.qual; if (p->b->core.qual < q) q = p->b->core.qual; // cap the overall quality at mapping quality x |= q << 24; qq = bam1_seqi(bam1_seq(p->b), p->qpos); // base q = bam_nt16_nt4_table[qq? qq : ref_base]; // q is the 2-bit base if (q < 4) x |= 1 << 21 | q << 16; - + k = (ref4 < 4 && q == ref4)? 0 : 1; + k = k<<1 | bam1_strand(p->b); + ++r->d[k]; bca->info[n++] = x; + // calculate min_dist + min_dist = p->b->core.l_qseq - 1 - p->qpos; + if (min_dist > p->qpos) min_dist = p->qpos; + k = (k&2) | (min_dist <= END_DIST_THRES); + ++r->ed[k]; } ks_introsort_uint32_t(n, bca->info); r->depth = n; @@ -116,7 +129,7 @@ int bcf_call_glfgen(int _n, const bam_pileup1_t *pl, int ref_base /*4-bit*/, bcf tmp = (int)(info&0xff) < bca->capQ? (int)(info&0xff) : bca->capQ; r->sum_Q2 += tmp * tmp; } - memcpy(r->esum, aux.esum, 4 * sizeof(float)); + memcpy(r->esum, aux.esum, 5 * sizeof(float)); // rescale ->c[] for (j = c = 0; j != 4; ++j) c += aux.c[j]; if (c > 255) { @@ -124,38 +137,30 @@ int bcf_call_glfgen(int _n, const bam_pileup1_t *pl, int ref_base /*4-bit*/, bcf for (j = c = 0; j != 4; ++j) c += aux.c[j]; } // generate likelihood - for (j = 0; j != 4; ++j) { + for (j = 0; j != 5; ++j) { float tmp; // homozygous - for (k = 0, tmp = 0.0; k != 4; ++k) + for (k = 0, tmp = 0.0; k != 5; ++k) if (j != k) tmp += aux.esum[k]; - p[j<<2|j] = tmp; // anything that is not j + p[j*5+j] = tmp; // anything that is not j // heterozygous - for (k = j + 1; k < 4; ++k) { - for (i = 0, tmp = 0.0; i != 4; ++i) + for (k = j + 1; k < 5; ++k) { + for (i = 0, tmp = 0.0; i != 5; ++i) if (i != j && i != k) tmp += aux.esum[i]; - p[j<<2|k] = p[k<<2|j] = 3.01 * (aux.c[j] + aux.c[k]) + tmp; + p[j*5+k] = p[k*5+j] = 3.01 * (aux.c[j] + aux.c[k]) + tmp; } } - return 0; + return r->depth; } -/* - 1) Find the top 2 bases (from esum[4]). - - 2) If the reference base is among the top 2, consider the locus is - potentially biallelic and set call->a[2] as -1; otherwise, the - locus is potentially triallelic. If the reference is ambiguous, - take the weakest call as the pseudo-reference. - */ int bcf_call_combine(int n, const bcf_callret1_t *calls, int ref_base /*4-bit*/, bcf_call_t *call) { int ref4, i, j; - int64_t sum[4], tmp; + int64_t sum[5], tmp; call->ori_ref = ref4 = bam_nt16_nt4_table[ref_base]; if (ref4 > 4) ref4 = 4; { // calculate esum - double esum[4]; + double esum[5]; memset(esum, 0, sizeof(double) * 4); for (i = 0; i < n; ++i) { for (j = 0; j < 4; ++j) @@ -169,38 +174,31 @@ int bcf_call_combine(int n, const bcf_callret1_t *calls, int ref_base /*4-bit*/, for (j = i; j > 0 && sum[j] < sum[j-1]; --j) tmp = sum[j], sum[j] = sum[j-1], sum[j-1] = tmp; // set the reference allele and alternative allele(s) - for (i = 0; i < 4; ++i) call->a[i] = -1; + for (i = 0; i < 5; ++i) call->a[i] = -1; call->unseen = -1; - if (ref4 < 4) { - call->a[0] = ref4; - for (i = 3, j = 1; i >= 0; --i) { - if ((sum[i]&3) != ref4) { - if (sum[i]>>2 != 0) call->a[j++] = sum[i]&3; - else break; - } - } - if (j < 4 && i >= 0) call->unseen = j, call->a[j++] = sum[i]&3; - call->n_alleles = j; - } else { - for (i = 3, j = 0; i >= 0; --i) + call->a[0] = ref4; + for (i = 3, j = 1; i >= 0; --i) { + if ((sum[i]&3) != ref4) { if (sum[i]>>2 != 0) call->a[j++] = sum[i]&3; else break; - if (j < 4 && i >= 0) call->unseen = j, call->a[j++] = sum[i]&3; - call->n_alleles = j; + } } + if (((ref4 < 4 && j < 4) || (ref4 == 4 && j < 5)) && i >= 0) + call->unseen = j, call->a[j++] = sum[i]&3; + call->n_alleles = j; // set the PL array if (call->n < n) { call->n = n; - call->PL = realloc(call->PL, 6 * n); + call->PL = realloc(call->PL, 15 * n); } { - int x, g[6], z; + int x, g[15], z; double sum_min = 0.; x = call->n_alleles * (call->n_alleles + 1) / 2; // get the possible genotypes for (i = z = 0; i < call->n_alleles; ++i) for (j = i; j < call->n_alleles; ++j) - g[z++] = call->a[i]<<2 | call->a[j]; + g[z++] = call->a[i] * 5 + call->a[j]; for (i = 0; i < n; ++i) { uint8_t *PL = call->PL + x * i; const bcf_callret1_t *r = calls + i; @@ -217,8 +215,11 @@ int bcf_call_combine(int n, const bcf_callret1_t *calls, int ref_base /*4-bit*/, } call->shift = (int)(sum_min + .499); } + memset(call->d, 0, 4 * sizeof(int)); + memset(call->ed, 0, 4 * sizeof(int)); for (i = call->depth = 0, tmp = 0; i < n; ++i) { call->depth += calls[i].depth; + for (j = 0; j < 4; ++j) call->d[j] += calls[i].d[j], call->ed[j] += calls[i].ed[j]; tmp += calls[i].sum_Q2; } call->rmsQ = (int)(sqrt((double)tmp / call->depth) + .499); @@ -228,21 +229,33 @@ int bcf_call_combine(int n, const bcf_callret1_t *calls, int ref_base /*4-bit*/, int bcf_call2bcf(int tid, int pos, bcf_call_t *bc, bcf1_t *b) { kstring_t s; - int i, beg; + int i; b->tid = tid; b->pos = pos; b->qual = 0; s.s = b->str; s.m = b->m_str; s.l = 0; kputc('\0', &s); kputc("ACGTN"[bc->ori_ref], &s); kputc('\0', &s); - beg = bc->ori_ref > 3? 0 : 1; - for (i = beg; i < 4; ++i) { + for (i = 1; i < 5; ++i) { if (bc->a[i] < 0) break; - if (i > beg) kputc(',', &s); + if (i > 1) kputc(',', &s); // kputc(bc->unseen == i && i != 3? 'X' : "ACGT"[bc->a[i]], &s); kputc(bc->unseen == i? 'X' : "ACGT"[bc->a[i]], &s); } kputc('\0', &s); kputc('\0', &s); - kputs("MQ=", &s); kputw(bc->rmsQ, &s); kputs(";DP=", &s); kputw(bc->depth, &s); kputc('\0', &s); + // INFO + kputs("MQ=", &s); kputw(bc->rmsQ, &s); // kputs(";DP=", &s); kputw(bc->depth, &s); + kputs(";DP4=", &s); + for (i = 0; i < 4; ++i) { + if (i) kputc(',', &s); + kputw(bc->d[i], &s); + } + kputs(";ED4=", &s); + for (i = 0; i < 4; ++i) { + if (i) kputc(',', &s); + kputw(bc->ed[i], &s); + } + kputc('\0', &s); + // FMT kputs("PL", &s); kputc('\0', &s); b->m_str = s.m; b->str = s.s; b->l_str = s.l; bcf_sync(bc->n, b);