X-Git-Url: https://git.donarmstrong.com/?a=blobdiff_plain;f=bcftools%2Fprob1.c;h=1d0328f936c180ebb447e4006631fa2c018363b6;hb=b62e611309f1aab8113ae4f0f74b0a61113f3cda;hp=6afd664f397b32d62aedad0774849d2e698f5bb7;hpb=f27c5d351576e00cece3708adcb386da61fe7b7f;p=samtools.git diff --git a/bcftools/prob1.c b/bcftools/prob1.c index 6afd664..1d0328f 100644 --- a/bcftools/prob1.c +++ b/bcftools/prob1.c @@ -2,12 +2,18 @@ #include #include #include +#include #include "prob1.h" +#include "kseq.h" +KSTREAM_INIT(gzFile, gzread, 16384) + #define MC_AVG_ERR 0.007 #define MC_MAX_EM_ITER 16 #define MC_EM_EPS 1e-4 +//#define _BCF_QUAD + unsigned char seq_nt4_table[256] = { 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, 4, @@ -28,11 +34,14 @@ unsigned char seq_nt4_table[256] = { }; struct __bcf_p1aux_t { - int n, M; + int n, M, n1; double *q2p, *pdg; // pdg -> P(D|g) - double *phi, *CMk; // CMk=\binom{M}{k} + double *phi; double *z, *zswap; // aux for afs + double *z1, *z2; // only calculated when n1 is set + double t, t1, t2; double *afs, *afs1; // afs: accumulative AFS; afs1: site posterior distribution + double *k1k2; const uint8_t *PL; // point to PL int PL_len; }; @@ -54,35 +63,96 @@ void bcf_p1_init_prior(bcf_p1aux_t *ma, int type, double theta) } } -bcf_p1aux_t *bcf_p1_init(int n) // FIXME: assuming diploid +int bcf_p1_read_prior(bcf_p1aux_t *ma, const char *fn) +{ + gzFile fp; + kstring_t s; + kstream_t *ks; + long double sum; + int dret, k; + memset(&s, 0, sizeof(kstring_t)); + fp = strcmp(fn, "-")? gzopen(fn, "r") : gzdopen(fileno(stdin), "r"); + ks = ks_init(fp); + memset(ma->phi, 0, sizeof(double) * (ma->M + 1)); + while (ks_getuntil(ks, '\n', &s, &dret) >= 0) { + if (strstr(s.s, "[afs] ") == s.s) { + char *p = s.s + 6; + for (k = 0; k <= ma->M; ++k) { + int x; + double y; + x = strtol(p, &p, 10); + if (x != k && (errno == EINVAL || errno == ERANGE)) return -1; + ++p; + y = strtod(p, &p); + if (y == 0. && (errno == EINVAL || errno == ERANGE)) return -1; + ma->phi[ma->M - k] += y; + } + } + } + ks_destroy(ks); + gzclose(fp); + free(s.s); + for (sum = 0., k = 0; k <= ma->M; ++k) sum += ma->phi[k]; + fprintf(stderr, "[prior]"); + for (k = 0; k <= ma->M; ++k) ma->phi[k] /= sum; + for (k = 0; k <= ma->M; ++k) fprintf(stderr, " %d:%.3lg", k, ma->phi[ma->M - k]); + fputc('\n', stderr); + return 0; +} + +bcf_p1aux_t *bcf_p1_init(int n) { bcf_p1aux_t *ma; int i; ma = calloc(1, sizeof(bcf_p1aux_t)); + ma->n1 = -1; ma->n = n; ma->M = 2 * n; ma->q2p = calloc(256, sizeof(double)); ma->pdg = calloc(3 * ma->n, sizeof(double)); ma->phi = calloc(ma->M + 1, sizeof(double)); - ma->CMk = calloc(ma->M + 1, sizeof(double)); ma->z = calloc(2 * ma->n + 1, sizeof(double)); ma->zswap = calloc(2 * ma->n + 1, sizeof(double)); + ma->z1 = calloc(ma->M + 1, sizeof(double)); // actually we do not need this large + ma->z2 = calloc(ma->M + 1, sizeof(double)); ma->afs = calloc(2 * ma->n + 1, sizeof(double)); ma->afs1 = calloc(2 * ma->n + 1, sizeof(double)); for (i = 0; i < 256; ++i) ma->q2p[i] = pow(10., -i / 10.); - for (i = 0; i <= ma->M; ++i) - ma->CMk[i] = exp(lgamma(ma->M + 1) - lgamma(i + 1) - lgamma(ma->M - i + 1)); bcf_p1_init_prior(ma, MC_PTYPE_FULL, 1e-3); // the simplest prior return ma; } +#ifdef _BCF_QUAD +static double lbinom(int n, int k) +{ + return lgamma(n+1) - lgamma(k+1) - lgamma(n-k+1); +} +#endif + +int bcf_p1_set_n1(bcf_p1aux_t *b, int n1) +{ + if (n1 == 0 || n1 >= b->n) return -1; + b->n1 = n1; +#ifdef _BCF_QUAD + { + int k1, k2, n2 = b->n - b->n1; + b->k1k2 = calloc((2*n1+1) * (2*n2+1), sizeof(double)); + for (k1 = 0; k1 <= 2*n1; ++k1) + for (k2 = 0; k2 <= 2*n2; ++k2) + b->k1k2[k1*(2*n2+1)+k2] = exp(lbinom(2*n1,k1) + lbinom(2*n2,k2) - lbinom(b->M,k1+k2)); + } +#endif + return 0; +} + void bcf_p1_destroy(bcf_p1aux_t *ma) { if (ma) { free(ma->q2p); free(ma->pdg); - free(ma->phi); free(ma->CMk); - free(ma->z); free(ma->zswap); + free(ma->phi); + free(ma->z); free(ma->zswap); free(ma->z1); free(ma->z2); free(ma->afs); free(ma->afs1); + free(ma->k1k2); free(ma); } } @@ -147,39 +217,141 @@ int bcf_p1_call_gt(const bcf_p1aux_t *ma, double f0, int k) return q<<2|max_i; } -static void mc_cal_z(bcf_p1aux_t *ma) +#define TINY 1e-20 + +static void mc_cal_y_core(bcf_p1aux_t *ma, int beg) { double *z[2], *tmp, *pdg; - int i, j; + int _j, last_min, last_max; z[0] = ma->z; z[1] = ma->zswap; pdg = ma->pdg; - z[0][0] = 1.; z[0][1] = z[0][2] = 0.; - for (j = 0; j < ma->n; ++j) { - int max = (j + 1) * 2; - double p[3]; - pdg = ma->pdg + j * 3; + memset(z[0], 0, sizeof(double) * (ma->M + 1)); + memset(z[1], 0, sizeof(double) * (ma->M + 1)); + z[0][0] = 1.; + last_min = last_max = 0; + ma->t = 0.; + for (_j = beg; _j < ma->n; ++_j) { + int k, j = _j - beg, _min = last_min, _max = last_max; + double p[3], sum; + pdg = ma->pdg + _j * 3; p[0] = pdg[0]; p[1] = 2. * pdg[1]; p[2] = pdg[2]; - z[1][0] = p[0] * z[0][0]; - z[1][1] = p[0] * z[0][1] + p[1] * z[0][0]; - for (i = 2; i <= max; ++i) - z[1][i] = p[0] * z[0][i] + p[1] * z[0][i-1] + p[2] * z[0][i-2]; - if (j < ma->n - 1) z[1][max+1] = z[1][max+2] = 0.; + for (; _min < _max && z[0][_min] < TINY; ++_min) z[0][_min] = z[1][_min] = 0.; + for (; _max > _min && z[0][_max] < TINY; --_max) z[0][_max] = z[1][_max] = 0.; + _max += 2; + if (_min == 0) + k = 0, z[1][k] = (2*j+2-k)*(2*j-k+1) * p[0] * z[0][k]; + if (_min <= 1) + k = 1, z[1][k] = (2*j+2-k)*(2*j-k+1) * p[0] * z[0][k] + k*(2*j+2-k) * p[1] * z[0][k-1]; + for (k = _min < 2? 2 : _min; k <= _max; ++k) + z[1][k] = (2*j+2-k)*(2*j-k+1) * p[0] * z[0][k] + + k*(2*j+2-k) * p[1] * z[0][k-1] + + k*(k-1)* p[2] * z[0][k-2]; + for (k = _min, sum = 0.; k <= _max; ++k) sum += z[1][k]; + ma->t += log(sum / ((2. * j + 2) * (2. * j + 1))); + for (k = _min; k <= _max; ++k) z[1][k] /= sum; + if (_min >= 1) z[1][_min-1] = 0.; + if (_min >= 2) z[1][_min-2] = 0.; + if (j < ma->n - 1) z[1][_max+1] = z[1][_max+2] = 0.; + if (_j == ma->n1 - 1) { // set pop1 + ma->t1 = ma->t; + memcpy(ma->z1, z[1], sizeof(double) * (ma->n1 * 2 + 1)); + } tmp = z[0]; z[0] = z[1]; z[1] = tmp; + last_min = _min; last_max = _max; } if (z[0] != ma->z) memcpy(ma->z, z[0], sizeof(double) * (ma->M + 1)); } +static void mc_cal_y(bcf_p1aux_t *ma) +{ + if (ma->n1 > 0 && ma->n1 < ma->n) { + int k; + long double x; + memset(ma->z1, 0, sizeof(double) * (2 * ma->n1 + 1)); + memset(ma->z2, 0, sizeof(double) * (2 * (ma->n - ma->n1) + 1)); + ma->t1 = ma->t2 = 0.; + mc_cal_y_core(ma, ma->n1); + ma->t2 = ma->t; + memcpy(ma->z2, ma->z, sizeof(double) * (2 * (ma->n - ma->n1) + 1)); + mc_cal_y_core(ma, 0); + // rescale z + x = expl(ma->t - (ma->t1 + ma->t2)); + for (k = 0; k <= ma->M; ++k) ma->z[k] *= x; + } else mc_cal_y_core(ma, 0); +#ifdef _BCF_QUAD +/* + if (ma->n1 > 0 && ma->n1 < ma->n) { // DEBUG: consistency check; z[i] should equal y[i] + int i, k1, k2, n1 = ma->n1, n2 = ma->n - n1; + double *y; + printf("*** "); + y = calloc(ma->M + 1, sizeof(double)); + for (k1 = 0; k1 <= 2*n1; ++k1) + for (k2 = 0; k2 <= 2*n2; ++k2) + y[k1+k2] += ma->k1k2[k1*(2*n2+1)+k2] * ma->z1[k1] * ma->z2[k2]; + for (i = 0; i <= ma->M; ++i) printf("(%lf,%lf) ", ma->z[i], y[i]); + printf("\n"); + free(y); + } +*/ +#endif +} + +static void contrast(bcf_p1aux_t *ma, double pc[4]) // mc_cal_y() must be called before hand +{ + int k, n1 = ma->n1, n2 = ma->n - ma->n1; + long double sum = -1., x, sum_alt; + double y; + pc[0] = pc[1] = pc[2] = pc[3] = -1.; + if (n1 <= 0 || n2 <= 0) return; +#ifdef _BCF_QUAD + { // FIXME: can be improved by skipping zero cells + int k1, k2; + long double z[3]; + z[0] = z[1] = z[2] = 0.; + for (k1 = 0; k1 <= 2*n1; ++k1) + for (k2 = 0; k2 <= 2*n2; ++k2) { + double zz = ma->phi[k1+k2] * ma->z1[k1] * ma->z2[k2] * ma->k1k2[k1*(2*n2+1)+k2]; + if ((double)k1/n1 < (double)k2/n2) z[0] += zz; + else if ((double)k1/n1 > (double)k2/n2) z[1] += zz; + else z[2] += zz; + } + sum = z[0] + z[1] + z[2]; + pc[2] = z[0] / sum; pc[3] = z[1] / sum; + } +#else + pc[2] = pc[3] = 0.; +#endif + for (k = 0, sum_alt = 0.; k <= ma->M; ++k) + sum_alt += (long double)ma->phi[k] * ma->z[k]; +// printf("* %lg, %lg *\n", (double)sum, (double)sum_alt); // DEBUG: sum should equal sum_alt + sum = sum_alt; + y = lgamma(2*n1 + 1) - lgamma(ma->M + 1); + for (k = 1, x = 0.; k <= 2 * n2; ++k) + x += ma->phi[k] * ma->z2[k] * exp(lgamma(ma->M - k + 1) - lgamma(2*n2 - k + 1) + y); + pc[0] = ma->z1[0] * x / sum; + y = lgamma(2*n2 + 1) - lgamma(ma->M + 1); + for (k = 1, x = 0.; k <= 2 * n1; ++k) + x += ma->phi[k] * ma->z1[k] * exp(lgamma(ma->M - k + 1) - lgamma(2*n1 - k + 1) + y); + pc[1] = ma->z2[0] * x / sum; + for (k = 0; k < 4; ++k) { + y = 1. - pc[k]; + if (y <= 0.) y = 1e-100; + pc[k] = (int)(-3.434 * log(y) + .499); + if (pc[k] > 99.) pc[k] = 99.; + } +} + static double mc_cal_afs(bcf_p1aux_t *ma) { int k; long double sum = 0.; memset(ma->afs1, 0, sizeof(double) * (ma->M + 1)); - mc_cal_z(ma); + mc_cal_y(ma); for (k = 0, sum = 0.; k <= ma->M; ++k) - sum += (long double)ma->phi[k] * ma->z[k] / ma->CMk[k]; + sum += (long double)ma->phi[k] * ma->z[k]; for (k = 0; k <= ma->M; ++k) { - ma->afs1[k] = ma->phi[k] * ma->z[k] / ma->CMk[k] / sum; + ma->afs1[k] = ma->phi[k] * ma->z[k] / sum; if (isnan(ma->afs1[k]) || isinf(ma->afs1[k])) return -1.; } for (k = 0, sum = 0.; k <= ma->M; ++k) { @@ -189,7 +361,7 @@ static double mc_cal_afs(bcf_p1aux_t *ma) return sum / ma->M; } -static long double p1_cal_g3(bcf_p1aux_t *p1a, double g[3]) +long double bcf_p1_cal_g3(bcf_p1aux_t *p1a, double g[3]) { long double pd = 0., g2[3]; int i, k; @@ -234,10 +406,10 @@ int bcf_p1_cal(bcf1_t *b, bcf_p1aux_t *ma, bcf_p1rst_t *rst) rst->p_ref = ma->afs1[ma->M]; // calculate f_flat and f_em for (k = 0, sum = 0.; k <= ma->M; ++k) - sum += (long double)ma->z[k] / ma->CMk[k]; + sum += (long double)ma->z[k]; rst->f_flat = 0.; for (k = 0; k <= ma->M; ++k) { - double p = ma->z[k] / ma->CMk[k] / sum; + double p = ma->z[k] / sum; rst->f_flat += k * p; } rst->f_flat /= ma->M; @@ -249,7 +421,9 @@ int bcf_p1_cal(bcf1_t *b, bcf_p1aux_t *ma, bcf_p1rst_t *rst) flast = rst->f_em; } } - p1_cal_g3(ma, rst->g); + rst->g[0] = rst->g[1] = rst->g[2] = -1.; + contrast(ma, rst->pc); +// bcf_p1_cal_g3(ma, rst->g); return 0; }