#include #include #include "bcf.h" #define MAX_GENO 359 int8_t seq_bitcnt[] = { 4, 1, 1, 2, 1, 2, 2, 3, 1, 2, 2, 3, 2, 3, 3, 4 }; char *seq_nt16rev = "XACMGRSVTWYHKDBN"; uint32_t *bcf_trio_prep(int is_x, int is_son) { int i, j, k, n, map[10]; uint32_t *ret; ret = calloc(MAX_GENO, 4); for (i = 0, k = 0; i < 4; ++i) for (j = i; j < 4; ++j) map[k++] = 1<n_smpl != 3) return -1; // not a trio for (i = 0; i < b->n_gi; ++i) if (b->gi[i].fmt == bcf_str2int("PL", 2)) break; if (i == b->n_gi) return -1; // no PL gl10 = alloca(10 * b->n_smpl); if (bcf_gl10(b, gl10) < 0) { if (bcf_gl10_indel(b, gl10) < 0) return -1; } PL = b->gi + i; for (i = 0, k = 0; i < 4; ++i) for (j = i; j < 4; ++j) map[k++] = seq_nt16rev[1<data)[j * PL->len] != 0) break; if (j < 3) { // we need to go through the complex procedure uint8_t *g[3]; int minc = 1<<30, minc_j = -1, minf = 0, gtf = 0, gtc = 0; g[0] = gl10; g[1] = gl10 + 10; g[2] = gl10 + 20; for (j = 1; j <= (int)prep[0]; ++j) { // compute LK with constraint int sum = g[0][prep[j]&0xff] + g[1][prep[j]>>8&0xff] + g[2][prep[j]>>16&0xff]; if (sum < minc) minc = sum, minc_j = j; } gtc |= map[prep[minc_j]&0xff]; gtc |= map[prep[minc_j]>>8&0xff]<<8; gtc |= map[prep[minc_j]>>16]<<16; for (j = 0; j < 3; ++j) { // compute LK without constraint int min = 1<<30, min_k = -1; for (k = 0; k < 10; ++k) if (g[j][k] < min) min = g[j][k], min_k = k; gtf |= map[min_k]<<(j*8); minf += min; } *llr = minc - minf; *gt = (int64_t)gtc<<32 | gtf; } else *llr = 0, *gt = -1; return 0; } int bcf_pair_call(const bcf1_t *b) { int i, j, k; const bcf_ginfo_t *PL; if (b->n_smpl != 2) return -1; // not a pair for (i = 0; i < b->n_gi; ++i) if (b->gi[i].fmt == bcf_str2int("PL", 2)) break; if (i == b->n_gi) return -1; // no PL PL = b->gi + i; for (j = 0; j < 2; ++j) // check if ref hom is the most probable in all members if (((uint8_t*)PL->data)[j * PL->len] != 0) break; if (j < 2) { // we need to go through the complex procedure uint8_t *g[2]; int minc = 1<<30, minf = 0; g[0] = PL->data; g[1] = (uint8_t*)PL->data + PL->len; for (j = 0; j < PL->len; ++j) // compute LK with constraint minc = minc < g[0][j] + g[1][j]? minc : g[0][j] + g[1][j]; for (j = 0; j < 2; ++j) { // compute LK without constraint int min = 1<<30; for (k = 0; k < PL->len; ++k) min = min < g[j][k]? min : g[j][k]; minf += min; } return minc - minf; } else return 0; } int bcf_min_diff(const bcf1_t *b) { int i, min = 1<<30; const bcf_ginfo_t *PL; for (i = 0; i < b->n_gi; ++i) if (b->gi[i].fmt == bcf_str2int("PL", 2)) break; if (i == b->n_gi) return -1; // no PL PL = b->gi + i; for (i = 0; i < b->n_smpl; ++i) { int m1, m2, j; const uint8_t *p = (uint8_t*)PL->data; m1 = m2 = 1<<30; for (j = 0; j < PL->len; ++j) { if ((int)p[j] < m1) m2 = m1, m1 = p[j]; else if ((int)p[j] < m2) m2 = p[j]; } min = min < m2 - m1? min : m2 - m1; } return min; }