X-Git-Url: http://woldlab.caltech.edu/gitweb/?p=pysam.git;a=blobdiff_plain;f=samtools%2Fbam2bcf.c.pysam.c;fp=samtools%2Fbam2bcf.c.pysam.c;h=06f85998d432012ac9baa56fa2f8ded3ae68ec5e;hp=0000000000000000000000000000000000000000;hb=d02fe5283ed7a93a2f76a5d6dc6e37b40c11b9b1;hpb=d828f9c9aa78e3d1687265b52de841f3f3852089 diff --git a/samtools/bam2bcf.c.pysam.c b/samtools/bam2bcf.c.pysam.c new file mode 100644 index 0000000..06f8599 --- /dev/null +++ b/samtools/bam2bcf.c.pysam.c @@ -0,0 +1,262 @@ +#include "pysam.h" + +#include +#include +#include "bam.h" +#include "kstring.h" +#include "bam2bcf.h" +#include "errmod.h" +#include "bcftools/bcf.h" + +extern void ks_introsort_uint32_t(size_t n, uint32_t a[]); + +#define CALL_ETA 0.03f +#define CALL_MAX 256 +#define CALL_DEFTHETA 0.83f +#define DEF_MAPQ 20 + +#define CAP_DIST 25 + +bcf_callaux_t *bcf_call_init(double theta, int min_baseQ) +{ + bcf_callaux_t *bca; + if (theta <= 0.) theta = CALL_DEFTHETA; + bca = calloc(1, sizeof(bcf_callaux_t)); + bca->capQ = 60; + bca->openQ = 40; bca->extQ = 20; bca->tandemQ = 100; + bca->min_baseQ = min_baseQ; + bca->e = errmod_init(1. - theta); + bca->min_frac = 0.002; + bca->min_support = 1; + return bca; +} + +void bcf_call_destroy(bcf_callaux_t *bca) +{ + if (bca == 0) return; + errmod_destroy(bca->e); + free(bca->bases); free(bca->inscns); free(bca); +} +/* ref_base is the 4-bit representation of the reference base. It is + * negative if we are looking at an indel. */ +int bcf_call_glfgen(int _n, const bam_pileup1_t *pl, int ref_base, bcf_callaux_t *bca, bcf_callret1_t *r) +{ + int i, n, ref4, is_indel, ori_depth = 0; + memset(r, 0, sizeof(bcf_callret1_t)); + if (ref_base >= 0) { + ref4 = bam_nt16_nt4_table[ref_base]; + is_indel = 0; + } else ref4 = 4, is_indel = 1; + if (_n == 0) return -1; + // enlarge the bases array if necessary + if (bca->max_bases < _n) { + bca->max_bases = _n; + kroundup32(bca->max_bases); + bca->bases = (uint16_t*)realloc(bca->bases, 2 * bca->max_bases); + } + // fill the bases array + memset(r, 0, sizeof(bcf_callret1_t)); + for (i = n = 0; i < _n; ++i) { + const bam_pileup1_t *p = pl + i; + int q, b, mapQ, baseQ, is_diff, min_dist, seqQ; + // set base + if (p->is_del || p->is_refskip || (p->b->core.flag&BAM_FUNMAP)) continue; + ++ori_depth; + baseQ = q = is_indel? p->aux&0xff : (int)bam1_qual(p->b)[p->qpos]; // base/indel quality + seqQ = is_indel? (p->aux>>8&0xff) : 99; + if (q < bca->min_baseQ) continue; + if (q > seqQ) q = seqQ; + mapQ = p->b->core.qual < 255? p->b->core.qual : DEF_MAPQ; // special case for mapQ==255 + mapQ = mapQ < bca->capQ? mapQ : bca->capQ; + if (q > mapQ) q = mapQ; + if (q > 63) q = 63; + if (q < 4) q = 4; + if (!is_indel) { + b = bam1_seqi(bam1_seq(p->b), p->qpos); // base + b = bam_nt16_nt4_table[b? b : ref_base]; // b is the 2-bit base + is_diff = (ref4 < 4 && b == ref4)? 0 : 1; + } else { + b = p->aux>>16&0x3f; + is_diff = (b != 0); + } + bca->bases[n++] = q<<5 | (int)bam1_strand(p->b)<<4 | b; + // collect annotations + if (b < 4) r->qsum[b] += q; + ++r->anno[0<<2|is_diff<<1|bam1_strand(p->b)]; + min_dist = p->b->core.l_qseq - 1 - p->qpos; + if (min_dist > p->qpos) min_dist = p->qpos; + if (min_dist > CAP_DIST) min_dist = CAP_DIST; + r->anno[1<<2|is_diff<<1|0] += baseQ; + r->anno[1<<2|is_diff<<1|1] += baseQ * baseQ; + r->anno[2<<2|is_diff<<1|0] += mapQ; + r->anno[2<<2|is_diff<<1|1] += mapQ * mapQ; + r->anno[3<<2|is_diff<<1|0] += min_dist; + r->anno[3<<2|is_diff<<1|1] += min_dist * min_dist; + } + r->depth = n; r->ori_depth = ori_depth; + // glfgen + errmod_cal(bca->e, n, 5, bca->bases, r->p); + return r->depth; +} + +int bcf_call_combine(int n, const bcf_callret1_t *calls, int ref_base /*4-bit*/, bcf_call_t *call) +{ + int ref4, i, j, qsum[4]; + int64_t tmp; + if (ref_base >= 0) { + call->ori_ref = ref4 = bam_nt16_nt4_table[ref_base]; + if (ref4 > 4) ref4 = 4; + } else call->ori_ref = -1, ref4 = 0; + // calculate qsum + memset(qsum, 0, 4 * sizeof(int)); + for (i = 0; i < n; ++i) + for (j = 0; j < 4; ++j) + qsum[j] += calls[i].qsum[j]; + for (j = 0; j < 4; ++j) qsum[j] = qsum[j] << 2 | j; + // find the top 2 alleles + for (i = 1; i < 4; ++i) // insertion sort + for (j = i; j > 0 && qsum[j] < qsum[j-1]; --j) + tmp = qsum[j], qsum[j] = qsum[j-1], qsum[j-1] = tmp; + // set the reference allele and alternative allele(s) + for (i = 0; i < 5; ++i) call->a[i] = -1; + call->unseen = -1; + call->a[0] = ref4; + for (i = 3, j = 1; i >= 0; --i) { + if ((qsum[i]&3) != ref4) { + if (qsum[i]>>2 != 0) call->a[j++] = qsum[i]&3; + else break; + } + } + if (ref_base >= 0) { // for SNPs, find the "unseen" base + if (((ref4 < 4 && j < 4) || (ref4 == 4 && j < 5)) && i >= 0) + call->unseen = j, call->a[j++] = qsum[i]&3; + call->n_alleles = j; + } else { + call->n_alleles = j; + if (call->n_alleles == 1) return -1; // no reliable supporting read. stop doing anything + } + // set the PL array + if (call->n < n) { + call->n = n; + call->PL = realloc(call->PL, 15 * n); + } + { + 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 = 0; j <= i; ++j) + g[z++] = call->a[j] * 5 + call->a[i]; + for (i = 0; i < n; ++i) { + uint8_t *PL = call->PL + x * i; + const bcf_callret1_t *r = calls + i; + float min = 1e37; + for (j = 0; j < x; ++j) + if (min > r->p[g[j]]) min = r->p[g[j]]; + sum_min += min; + for (j = 0; j < x; ++j) { + int y; + y = (int)(r->p[g[j]] - min + .499); + if (y > 255) y = 255; + PL[j] = y; + } + } +// if (ref_base < 0) fprintf(pysamerr, "%d,%d,%f,%d\n", call->n_alleles, x, sum_min, call->unseen); + call->shift = (int)(sum_min + .499); + } + // combine annotations + memset(call->anno, 0, 16 * sizeof(int)); + for (i = call->depth = call->ori_depth = 0, tmp = 0; i < n; ++i) { + call->depth += calls[i].depth; + call->ori_depth += calls[i].ori_depth; + for (j = 0; j < 16; ++j) call->anno[j] += calls[i].anno[j]; + } + return 0; +} + +int bcf_call2bcf(int tid, int pos, bcf_call_t *bc, bcf1_t *b, bcf_callret1_t *bcr, int is_SP, + const bcf_callaux_t *bca, const char *ref) +{ + extern double kt_fisher_exact(int n11, int n12, int n21, int n22, double *_left, double *_right, double *two); + kstring_t s; + int i, j; + b->n_smpl = bc->n; + b->tid = tid; b->pos = pos; b->qual = 0; + s.s = b->str; s.m = b->m_str; s.l = 0; + kputc('\0', &s); + if (bc->ori_ref < 0) { // an indel + // write REF + kputc(ref[pos], &s); + for (j = 0; j < bca->indelreg; ++j) kputc(ref[pos+1+j], &s); + kputc('\0', &s); + // write ALT + kputc(ref[pos], &s); + for (i = 1; i < 4; ++i) { + if (bc->a[i] < 0) break; + if (i > 1) { + kputc(',', &s); kputc(ref[pos], &s); + } + if (bca->indel_types[bc->a[i]] < 0) { // deletion + for (j = -bca->indel_types[bc->a[i]]; j < bca->indelreg; ++j) + kputc(ref[pos+1+j], &s); + } else { // insertion; cannot be a reference unless a bug + char *inscns = &bca->inscns[bc->a[i] * bca->maxins]; + for (j = 0; j < bca->indel_types[bc->a[i]]; ++j) + kputc("ACGTN"[(int)inscns[j]], &s); + for (j = 0; j < bca->indelreg; ++j) kputc(ref[pos+1+j], &s); + } + } + kputc('\0', &s); + } else { // a SNP + kputc("ACGTN"[bc->ori_ref], &s); kputc('\0', &s); + for (i = 1; i < 5; ++i) { + if (bc->a[i] < 0) break; + if (i > 1) kputc(',', &s); + kputc(bc->unseen == i? 'X' : "ACGT"[bc->a[i]], &s); + } + kputc('\0', &s); + } + kputc('\0', &s); + // INFO + if (bc->ori_ref < 0) kputs("INDEL;", &s); + kputs("DP=", &s); kputw(bc->ori_depth, &s); kputs(";I16=", &s); + for (i = 0; i < 16; ++i) { + if (i) kputc(',', &s); + kputw(bc->anno[i], &s); + } + kputc('\0', &s); + // FMT + kputs("PL", &s); + if (bcr) { + kputs(":DP", &s); + if (is_SP) kputs(":SP", &s); + } + kputc('\0', &s); + b->m_str = s.m; b->str = s.s; b->l_str = s.l; + bcf_sync(b); + memcpy(b->gi[0].data, bc->PL, b->gi[0].len * bc->n); + if (bcr) { + uint16_t *dp = (uint16_t*)b->gi[1].data; + uint8_t *sp = is_SP? b->gi[2].data : 0; + for (i = 0; i < bc->n; ++i) { + bcf_callret1_t *p = bcr + i; + dp[i] = p->depth < 0xffff? p->depth : 0xffff; + if (is_SP) { + if (p->anno[0] + p->anno[1] < 2 || p->anno[2] + p->anno[3] < 2 + || p->anno[0] + p->anno[2] < 2 || p->anno[1] + p->anno[3] < 2) + { + sp[i] = 0; + } else { + double left, right, two; + int x; + kt_fisher_exact(p->anno[0], p->anno[1], p->anno[2], p->anno[3], &left, &right, &two); + x = (int)(-4.343 * log(two) + .499); + if (x > 255) x = 255; + sp[i] = x; + } + } + } + } + return 0; +}