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comparison PsiCLASS-1.0.2/samtools-0.1.19/kprobaln.c @ 0:903fc43d6227 draft default tip
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author | lsong10 |
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date | Fri, 26 Mar 2021 16:52:45 +0000 |
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1 /* The MIT License | |
2 | |
3 Copyright (c) 2003-2006, 2008-2010, by Heng Li <lh3lh3@live.co.uk> | |
4 | |
5 Permission is hereby granted, free of charge, to any person obtaining | |
6 a copy of this software and associated documentation files (the | |
7 "Software"), to deal in the Software without restriction, including | |
8 without limitation the rights to use, copy, modify, merge, publish, | |
9 distribute, sublicense, and/or sell copies of the Software, and to | |
10 permit persons to whom the Software is furnished to do so, subject to | |
11 the following conditions: | |
12 | |
13 The above copyright notice and this permission notice shall be | |
14 included in all copies or substantial portions of the Software. | |
15 | |
16 THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, | |
17 EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF | |
18 MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND | |
19 NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS | |
20 BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN | |
21 ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN | |
22 CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE | |
23 SOFTWARE. | |
24 */ | |
25 | |
26 #include <stdlib.h> | |
27 #include <stdio.h> | |
28 #include <string.h> | |
29 #include <stdint.h> | |
30 #include <math.h> | |
31 #include "kprobaln.h" | |
32 | |
33 /***************************************** | |
34 * Probabilistic banded glocal alignment * | |
35 *****************************************/ | |
36 | |
37 #define EI .25 | |
38 #define EM .33333333333 | |
39 | |
40 static float g_qual2prob[256]; | |
41 | |
42 #define set_u(u, b, i, k) { int x=(i)-(b); x=x>0?x:0; (u)=((k)-x+1)*3; } | |
43 | |
44 kpa_par_t kpa_par_def = { 0.001, 0.1, 10 }; | |
45 kpa_par_t kpa_par_alt = { 0.0001, 0.01, 10 }; | |
46 | |
47 /* | |
48 The topology of the profile HMM: | |
49 | |
50 /\ /\ /\ /\ | |
51 I[1] I[k-1] I[k] I[L] | |
52 ^ \ \ ^ \ ^ \ \ ^ | |
53 | \ \ | \ | \ \ | | |
54 M[0] M[1] -> ... -> M[k-1] -> M[k] -> ... -> M[L] M[L+1] | |
55 \ \/ \/ \/ / | |
56 \ /\ /\ /\ / | |
57 -> D[k-1] -> D[k] -> | |
58 | |
59 M[0] points to every {M,I}[k] and every {M,I}[k] points M[L+1]. | |
60 | |
61 On input, _ref is the reference sequence and _query is the query | |
62 sequence. Both are sequences of 0/1/2/3/4 where 4 stands for an | |
63 ambiguous residue. iqual is the base quality. c sets the gap open | |
64 probability, gap extension probability and band width. | |
65 | |
66 On output, state and q are arrays of length l_query. The higher 30 | |
67 bits give the reference position the query base is matched to and the | |
68 lower two bits can be 0 (an alignment match) or 1 (an | |
69 insertion). q[i] gives the phred scaled posterior probability of | |
70 state[i] being wrong. | |
71 */ | |
72 int kpa_glocal(const uint8_t *_ref, int l_ref, const uint8_t *_query, int l_query, const uint8_t *iqual, | |
73 const kpa_par_t *c, int *state, uint8_t *q) | |
74 { | |
75 double **f, **b = 0, *s, m[9], sI, sM, bI, bM, pb; | |
76 float *qual, *_qual; | |
77 const uint8_t *ref, *query; | |
78 int bw, bw2, i, k, is_diff = 0, is_backward = 1, Pr; | |
79 | |
80 if ( l_ref<=0 || l_query<=0 ) return 0; // FIXME: this may not be an ideal fix, just prevents sefgault | |
81 | |
82 /*** initialization ***/ | |
83 is_backward = state && q? 1 : 0; | |
84 ref = _ref - 1; query = _query - 1; // change to 1-based coordinate | |
85 bw = l_ref > l_query? l_ref : l_query; | |
86 if (bw > c->bw) bw = c->bw; | |
87 if (bw < abs(l_ref - l_query)) bw = abs(l_ref - l_query); | |
88 bw2 = bw * 2 + 1; | |
89 // allocate the forward and backward matrices f[][] and b[][] and the scaling array s[] | |
90 f = calloc(l_query+1, sizeof(void*)); | |
91 if (is_backward) b = calloc(l_query+1, sizeof(void*)); | |
92 for (i = 0; i <= l_query; ++i) { // FIXME: this will lead in segfault for l_query==0 | |
93 f[i] = calloc(bw2 * 3 + 6, sizeof(double)); // FIXME: this is over-allocated for very short seqs | |
94 if (is_backward) b[i] = calloc(bw2 * 3 + 6, sizeof(double)); | |
95 } | |
96 s = calloc(l_query+2, sizeof(double)); // s[] is the scaling factor to avoid underflow | |
97 // initialize qual | |
98 _qual = calloc(l_query, sizeof(float)); | |
99 if (g_qual2prob[0] == 0) | |
100 for (i = 0; i < 256; ++i) | |
101 g_qual2prob[i] = pow(10, -i/10.); | |
102 for (i = 0; i < l_query; ++i) _qual[i] = g_qual2prob[iqual? iqual[i] : 30]; | |
103 qual = _qual - 1; | |
104 // initialize transition probability | |
105 sM = sI = 1. / (2 * l_query + 2); // the value here seems not to affect results; FIXME: need proof | |
106 m[0*3+0] = (1 - c->d - c->d) * (1 - sM); m[0*3+1] = m[0*3+2] = c->d * (1 - sM); | |
107 m[1*3+0] = (1 - c->e) * (1 - sI); m[1*3+1] = c->e * (1 - sI); m[1*3+2] = 0.; | |
108 m[2*3+0] = 1 - c->e; m[2*3+1] = 0.; m[2*3+2] = c->e; | |
109 bM = (1 - c->d) / l_ref; bI = c->d / l_ref; // (bM+bI)*l_ref==1 | |
110 /*** forward ***/ | |
111 // f[0] | |
112 set_u(k, bw, 0, 0); | |
113 f[0][k] = s[0] = 1.; | |
114 { // f[1] | |
115 double *fi = f[1], sum; | |
116 int beg = 1, end = l_ref < bw + 1? l_ref : bw + 1, _beg, _end; | |
117 for (k = beg, sum = 0.; k <= end; ++k) { | |
118 int u; | |
119 double e = (ref[k] > 3 || query[1] > 3)? 1. : ref[k] == query[1]? 1. - qual[1] : qual[1] * EM; | |
120 set_u(u, bw, 1, k); | |
121 fi[u+0] = e * bM; fi[u+1] = EI * bI; | |
122 sum += fi[u] + fi[u+1]; | |
123 } | |
124 // rescale | |
125 s[1] = sum; | |
126 set_u(_beg, bw, 1, beg); set_u(_end, bw, 1, end); _end += 2; | |
127 for (k = _beg; k <= _end; ++k) fi[k] /= sum; | |
128 } | |
129 // f[2..l_query] | |
130 for (i = 2; i <= l_query; ++i) { | |
131 double *fi = f[i], *fi1 = f[i-1], sum, qli = qual[i]; | |
132 int beg = 1, end = l_ref, x, _beg, _end; | |
133 uint8_t qyi = query[i]; | |
134 x = i - bw; beg = beg > x? beg : x; // band start | |
135 x = i + bw; end = end < x? end : x; // band end | |
136 for (k = beg, sum = 0.; k <= end; ++k) { | |
137 int u, v11, v01, v10; | |
138 double e; | |
139 e = (ref[k] > 3 || qyi > 3)? 1. : ref[k] == qyi? 1. - qli : qli * EM; | |
140 set_u(u, bw, i, k); set_u(v11, bw, i-1, k-1); set_u(v10, bw, i-1, k); set_u(v01, bw, i, k-1); | |
141 fi[u+0] = e * (m[0] * fi1[v11+0] + m[3] * fi1[v11+1] + m[6] * fi1[v11+2]); | |
142 fi[u+1] = EI * (m[1] * fi1[v10+0] + m[4] * fi1[v10+1]); | |
143 fi[u+2] = m[2] * fi[v01+0] + m[8] * fi[v01+2]; | |
144 sum += fi[u] + fi[u+1] + fi[u+2]; | |
145 // fprintf(stderr, "F (%d,%d;%d): %lg,%lg,%lg\n", i, k, u, fi[u], fi[u+1], fi[u+2]); // DEBUG | |
146 } | |
147 // rescale | |
148 s[i] = sum; | |
149 set_u(_beg, bw, i, beg); set_u(_end, bw, i, end); _end += 2; | |
150 for (k = _beg, sum = 1./sum; k <= _end; ++k) fi[k] *= sum; | |
151 } | |
152 { // f[l_query+1] | |
153 double sum; | |
154 for (k = 1, sum = 0.; k <= l_ref; ++k) { | |
155 int u; | |
156 set_u(u, bw, l_query, k); | |
157 if (u < 3 || u >= bw2*3+3) continue; | |
158 sum += f[l_query][u+0] * sM + f[l_query][u+1] * sI; | |
159 } | |
160 s[l_query+1] = sum; // the last scaling factor | |
161 } | |
162 { // compute likelihood | |
163 double p = 1., Pr1 = 0.; | |
164 for (i = 0; i <= l_query + 1; ++i) { | |
165 p *= s[i]; | |
166 if (p < 1e-100) Pr1 += -4.343 * log(p), p = 1.; | |
167 } | |
168 Pr1 += -4.343 * log(p * l_ref * l_query); | |
169 Pr = (int)(Pr1 + .499); | |
170 if (!is_backward) { // skip backward and MAP | |
171 for (i = 0; i <= l_query; ++i) free(f[i]); | |
172 free(f); free(s); free(_qual); | |
173 return Pr; | |
174 } | |
175 } | |
176 /*** backward ***/ | |
177 // b[l_query] (b[l_query+1][0]=1 and thus \tilde{b}[][]=1/s[l_query+1]; this is where s[l_query+1] comes from) | |
178 for (k = 1; k <= l_ref; ++k) { | |
179 int u; | |
180 double *bi = b[l_query]; | |
181 set_u(u, bw, l_query, k); | |
182 if (u < 3 || u >= bw2*3+3) continue; | |
183 bi[u+0] = sM / s[l_query] / s[l_query+1]; bi[u+1] = sI / s[l_query] / s[l_query+1]; | |
184 } | |
185 // b[l_query-1..1] | |
186 for (i = l_query - 1; i >= 1; --i) { | |
187 int beg = 1, end = l_ref, x, _beg, _end; | |
188 double *bi = b[i], *bi1 = b[i+1], y = (i > 1), qli1 = qual[i+1]; | |
189 uint8_t qyi1 = query[i+1]; | |
190 x = i - bw; beg = beg > x? beg : x; | |
191 x = i + bw; end = end < x? end : x; | |
192 for (k = end; k >= beg; --k) { | |
193 int u, v11, v01, v10; | |
194 double e; | |
195 set_u(u, bw, i, k); set_u(v11, bw, i+1, k+1); set_u(v10, bw, i+1, k); set_u(v01, bw, i, k+1); | |
196 e = (k >= l_ref? 0 : (ref[k+1] > 3 || qyi1 > 3)? 1. : ref[k+1] == qyi1? 1. - qli1 : qli1 * EM) * bi1[v11]; | |
197 bi[u+0] = e * m[0] + EI * m[1] * bi1[v10+1] + m[2] * bi[v01+2]; // bi1[v11] has been foled into e. | |
198 bi[u+1] = e * m[3] + EI * m[4] * bi1[v10+1]; | |
199 bi[u+2] = (e * m[6] + m[8] * bi[v01+2]) * y; | |
200 // fprintf(stderr, "B (%d,%d;%d): %lg,%lg,%lg\n", i, k, u, bi[u], bi[u+1], bi[u+2]); // DEBUG | |
201 } | |
202 // rescale | |
203 set_u(_beg, bw, i, beg); set_u(_end, bw, i, end); _end += 2; | |
204 for (k = _beg, y = 1./s[i]; k <= _end; ++k) bi[k] *= y; | |
205 } | |
206 { // b[0] | |
207 int beg = 1, end = l_ref < bw + 1? l_ref : bw + 1; | |
208 double sum = 0.; | |
209 for (k = end; k >= beg; --k) { | |
210 int u; | |
211 double e = (ref[k] > 3 || query[1] > 3)? 1. : ref[k] == query[1]? 1. - qual[1] : qual[1] * EM; | |
212 set_u(u, bw, 1, k); | |
213 if (u < 3 || u >= bw2*3+3) continue; | |
214 sum += e * b[1][u+0] * bM + EI * b[1][u+1] * bI; | |
215 } | |
216 set_u(k, bw, 0, 0); | |
217 pb = b[0][k] = sum / s[0]; // if everything works as is expected, pb == 1.0 | |
218 } | |
219 is_diff = fabs(pb - 1.) > 1e-7? 1 : 0; | |
220 /*** MAP ***/ | |
221 for (i = 1; i <= l_query; ++i) { | |
222 double sum = 0., *fi = f[i], *bi = b[i], max = 0.; | |
223 int beg = 1, end = l_ref, x, max_k = -1; | |
224 x = i - bw; beg = beg > x? beg : x; | |
225 x = i + bw; end = end < x? end : x; | |
226 for (k = beg; k <= end; ++k) { | |
227 int u; | |
228 double z; | |
229 set_u(u, bw, i, k); | |
230 z = fi[u+0] * bi[u+0]; if (z > max) max = z, max_k = (k-1)<<2 | 0; sum += z; | |
231 z = fi[u+1] * bi[u+1]; if (z > max) max = z, max_k = (k-1)<<2 | 1; sum += z; | |
232 } | |
233 max /= sum; sum *= s[i]; // if everything works as is expected, sum == 1.0 | |
234 if (state) state[i-1] = max_k; | |
235 if (q) k = (int)(-4.343 * log(1. - max) + .499), q[i-1] = k > 100? 99 : k; | |
236 #ifdef _MAIN | |
237 fprintf(stderr, "(%.10lg,%.10lg) (%d,%d:%c,%c:%d) %lg\n", pb, sum, i-1, max_k>>2, | |
238 "ACGT"[query[i]], "ACGT"[ref[(max_k>>2)+1]], max_k&3, max); // DEBUG | |
239 #endif | |
240 } | |
241 /*** free ***/ | |
242 for (i = 0; i <= l_query; ++i) { | |
243 free(f[i]); free(b[i]); | |
244 } | |
245 free(f); free(b); free(s); free(_qual); | |
246 return Pr; | |
247 } | |
248 | |
249 #ifdef _MAIN | |
250 #include <unistd.h> | |
251 int main(int argc, char *argv[]) | |
252 { | |
253 uint8_t conv[256], *iqual, *ref, *query; | |
254 int c, l_ref, l_query, i, q = 30, b = 10, P; | |
255 while ((c = getopt(argc, argv, "b:q:")) >= 0) { | |
256 switch (c) { | |
257 case 'b': b = atoi(optarg); break; | |
258 case 'q': q = atoi(optarg); break; | |
259 } | |
260 } | |
261 if (optind + 2 > argc) { | |
262 fprintf(stderr, "Usage: %s [-q %d] [-b %d] <ref> <query>\n", argv[0], q, b); // example: acttc attc | |
263 return 1; | |
264 } | |
265 memset(conv, 4, 256); | |
266 conv['a'] = conv['A'] = 0; conv['c'] = conv['C'] = 1; | |
267 conv['g'] = conv['G'] = 2; conv['t'] = conv['T'] = 3; | |
268 ref = (uint8_t*)argv[optind]; query = (uint8_t*)argv[optind+1]; | |
269 l_ref = strlen((char*)ref); l_query = strlen((char*)query); | |
270 for (i = 0; i < l_ref; ++i) ref[i] = conv[ref[i]]; | |
271 for (i = 0; i < l_query; ++i) query[i] = conv[query[i]]; | |
272 iqual = malloc(l_query); | |
273 memset(iqual, q, l_query); | |
274 kpa_par_def.bw = b; | |
275 P = kpa_glocal(ref, l_ref, query, l_query, iqual, &kpa_par_alt, 0, 0); | |
276 fprintf(stderr, "%d\n", P); | |
277 free(iqual); | |
278 return 0; | |
279 } | |
280 #endif |