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1 #!/usr/bin/env luajit
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2
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3 -----------------------------------
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4 -- BEGIN: routines from klib.lua --
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5 -----------------------------------
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6
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7 -- Description: getopt() translated from the BSD getopt(); compatible with the default Unix getopt()
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8 --[[ Example:
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9 for o, a in os.getopt(arg, 'a:b') do
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10 print(o, a)
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11 end
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12 ]]--
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13 function os.getopt(args, ostr)
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14 local arg, place = nil, 0;
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15 return function ()
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16 if place == 0 then -- update scanning pointer
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17 place = 1
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18 if #args == 0 or args[1]:sub(1, 1) ~= '-' then place = 0; return nil end
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19 if #args[1] >= 2 then
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20 place = place + 1
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21 if args[1]:sub(2, 2) == '-' then -- found "--"
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22 table.remove(args, 1);
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23 place = 0
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24 return nil;
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25 end
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26 end
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27 end
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28 local optopt = place <= #args[1] and args[1]:sub(place, place) or nil
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29 place = place + 1;
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30 local oli = optopt and ostr:find(optopt) or nil
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31 if optopt == ':' or oli == nil then -- unknown option
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32 if optopt == '-' then return nil end
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33 if place > #args[1] then
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34 table.remove(args, 1);
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35 place = 0;
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36 end
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37 return '?';
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38 end
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39 oli = oli + 1;
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40 if ostr:sub(oli, oli) ~= ':' then -- do not need argument
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41 arg = nil;
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42 if place > #args[1] then
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43 table.remove(args, 1);
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44 place = 0;
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45 end
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46 else -- need an argument
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47 if place <= #args[1] then -- no white space
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48 arg = args[1]:sub(place);
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49 else
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50 table.remove(args, 1);
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51 if #args == 0 then -- an option requiring argument is the last one
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52 place = 0;
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53 if ostr:sub(1, 1) == ':' then return ':' end
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54 return '?';
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55 else arg = args[1] end
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56 end
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57 table.remove(args, 1);
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58 place = 0;
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59 end
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60 return optopt, arg;
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61 end
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62 end
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63
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64 -- Description: string split
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65 function string:split(sep, n)
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66 local a, start = {}, 1;
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67 sep = sep or "%s+";
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68 repeat
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69 local b, e = self:find(sep, start);
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70 if b == nil then
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71 table.insert(a, self:sub(start));
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72 break
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73 end
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74 a[#a+1] = self:sub(start, b - 1);
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75 start = e + 1;
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76 if n and #a == n then
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77 table.insert(a, self:sub(start));
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78 break
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79 end
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80 until start > #self;
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81 return a;
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82 end
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83
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84 -- Description: smart file open
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85 function io.xopen(fn, mode)
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86 mode = mode or 'r';
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87 if fn == nil then return io.stdin;
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88 elseif fn == '-' then return (mode == 'r' and io.stdin) or io.stdout;
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89 elseif fn:sub(-3) == '.gz' then return (mode == 'r' and io.popen('gzip -dc ' .. fn, 'r')) or io.popen('gzip > ' .. fn, 'w');
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90 elseif fn:sub(-4) == '.bz2' then return (mode == 'r' and io.popen('bzip2 -dc ' .. fn, 'r')) or io.popen('bgzip2 > ' .. fn, 'w');
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91 else return io.open(fn, mode) end
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92 end
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93
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94 -- Description: log gamma function
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95 -- Required by: math.lbinom()
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96 -- Reference: AS245, 2nd algorithm, http://lib.stat.cmu.edu/apstat/245
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97 function math.lgamma(z)
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98 local x;
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99 x = 0.1659470187408462e-06 / (z+7);
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100 x = x + 0.9934937113930748e-05 / (z+6);
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101 x = x - 0.1385710331296526 / (z+5);
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102 x = x + 12.50734324009056 / (z+4);
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103 x = x - 176.6150291498386 / (z+3);
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104 x = x + 771.3234287757674 / (z+2);
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105 x = x - 1259.139216722289 / (z+1);
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106 x = x + 676.5203681218835 / z;
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107 x = x + 0.9999999999995183;
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108 return math.log(x) - 5.58106146679532777 - z + (z-0.5) * math.log(z+6.5);
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109 end
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110
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111 -- Description: regularized incomplete gamma function
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112 -- Dependent on: math.lgamma()
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113 --[[
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114 Formulas are taken from Wiki, with additional input from Numerical
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115 Recipes in C (for modified Lentz's algorithm) and AS245
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116 (http://lib.stat.cmu.edu/apstat/245).
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117
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118 A good online calculator is available at:
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119
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120 http://www.danielsoper.com/statcalc/calc23.aspx
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121
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122 It calculates upper incomplete gamma function, which equals
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123 math.igamma(s,z,true)*math.exp(math.lgamma(s))
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124 ]]--
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125 function math.igamma(s, z, complement)
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126
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127 local function _kf_gammap(s, z)
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128 local sum, x = 1, 1;
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129 for k = 1, 100 do
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130 x = x * z / (s + k);
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131 sum = sum + x;
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132 if x / sum < 1e-14 then break end
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133 end
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134 return math.exp(s * math.log(z) - z - math.lgamma(s + 1.) + math.log(sum));
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135 end
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136
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137 local function _kf_gammaq(s, z)
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138 local C, D, f, TINY;
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139 f = 1. + z - s; C = f; D = 0.; TINY = 1e-290;
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140 -- Modified Lentz's algorithm for computing continued fraction. See Numerical Recipes in C, 2nd edition, section 5.2
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141 for j = 1, 100 do
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142 local d;
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143 local a, b = j * (s - j), j*2 + 1 + z - s;
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144 D = b + a * D;
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145 if D < TINY then D = TINY end
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146 C = b + a / C;
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147 if C < TINY then C = TINY end
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148 D = 1. / D;
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149 d = C * D;
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150 f = f * d;
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151 if math.abs(d - 1) < 1e-14 then break end
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152 end
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153 return math.exp(s * math.log(z) - z - math.lgamma(s) - math.log(f));
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154 end
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155
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156 if complement then
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157 return ((z <= 1 or z < s) and 1 - _kf_gammap(s, z)) or _kf_gammaq(s, z);
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158 else
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159 return ((z <= 1 or z < s) and _kf_gammap(s, z)) or (1 - _kf_gammaq(s, z));
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160 end
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161 end
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162
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163 function math.brent(func, a, b, tol)
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164 local gold1, gold2, tiny, max_iter = 1.6180339887, 0.3819660113, 1e-20, 100
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165
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166 local fa, fb = func(a, data), func(b, data)
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167 if fb > fa then -- swap, such that f(a) > f(b)
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168 a, b, fa, fb = b, a, fb, fa
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169 end
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170 local c = b + gold1 * (b - a)
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171 local fc = func(c) -- golden section extrapolation
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172 while fb > fc do
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173 local bound = b + 100.0 * (c - b) -- the farthest point where we want to go
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174 local r = (b - a) * (fb - fc)
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175 local q = (b - c) * (fb - fa)
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176 if math.abs(q - r) < tiny then -- avoid 0 denominator
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177 tmp = q > r and tiny or 0.0 - tiny
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178 else tmp = q - r end
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179 u = b - ((b - c) * q - (b - a) * r) / (2.0 * tmp) -- u is the parabolic extrapolation point
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180 if (b > u and u > c) or (b < u and u < c) then -- u lies between b and c
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181 fu = func(u)
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182 if fu < fc then -- (b,u,c) bracket the minimum
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183 a, b, fa, fb = b, u, fb, fu
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184 break
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185 elseif fu > fb then -- (a,b,u) bracket the minimum
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186 c, fc = u, fu
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187 break
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188 end
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189 u = c + gold1 * (c - b)
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190 fu = func(u) -- golden section extrapolation
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191 elseif (c > u and u > bound) or (c < u and u < bound) then -- u lies between c and bound
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192 fu = func(u)
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193 if fu < fc then -- fb > fc > fu
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194 b, c, u = c, u, c + gold1 * (c - b)
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195 fb, fc, fu = fc, fu, func(u)
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196 else -- (b,c,u) bracket the minimum
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197 a, b, c = b, c, u
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198 fa, fb, fc = fb, fc, fu
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199 break
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200 end
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201 elseif (u > bound and bound > c) or (u < bound and bound < c) then -- u goes beyond the bound
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202 u = bound
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203 fu = func(u)
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204 else -- u goes the other way around, use golden section extrapolation
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205 u = c + gold1 * (c - b)
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206 fu = func(u)
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207 end
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208 a, b, c = b, c, u
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209 fa, fb, fc = fb, fc, fu
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210 end
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211 if a > c then a, c = c, a end -- swap
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212
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213 -- now, a<b<c, fa>fb and fb<fc, move on to Brent's algorithm
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214 local e, d = 0, 0
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215 local w, v, fw, fv
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216 w, v = b, b
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217 fw, fv = fb, fb
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218 for iter = 1, max_iter do
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219 local mid = 0.5 * (a + c)
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220 local tol1 = tol * math.abs(b) + tiny
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221 local tol2 = 2.0 * tol1
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222 if math.abs(b - mid) <= tol2 - 0.5 * (c - a) then return fb, b end -- found
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223 if math.abs(e) > tol1 then
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224 -- related to parabolic interpolation
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225 local r = (b - w) * (fb - fv)
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226 local q = (b - v) * (fb - fw)
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227 local p = (b - v) * q - (b - w) * r
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228 q = 2.0 * (q - r)
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229 if q > 0.0 then p = 0.0 - p
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230 else q = 0.0 - q end
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231 eold, e = e, d
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232 if math.abs(p) >= math.abs(0.5 * q * eold) or p <= q * (a - b) or p >= q * (c - b) then
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233 e = b >= mid and a - b or c - b
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234 d = gold2 * e
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235 else
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236 d, u = p / q, b + d -- actual parabolic interpolation happens here
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237 if u - a < tol2 or c - u < tol2 then
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238 d = mid > b and tol1 or 0.0 - tol1
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239 end
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240 end
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241 else -- golden section interpolation
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242 e = b >= min and a - b or c - b
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243 d = gold2 * e
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244 end
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245 u = fabs(d) >= tol1 and b + d or b + (d > 0.0 and tol1 or -tol1);
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246 fu = func(u)
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247 if fu <= fb then -- u is the minimum point so far
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248 if u >= b then a = b
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249 else c = b end
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250 v, w, b = w, b, u
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251 fv, fw, fb = fw, fb, fu
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252 else -- adjust (a,c) and (u,v,w)
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253 if u < b then a = u
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254 else c = u end
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255 if fu <= fw or w == b then
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256 v, w = w, u
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257 fv, fw = fw, fu
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258 elseif fu <= fv or v == b or v == w then
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259 v, fv = u, fu;
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260 end
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261 end
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262 end
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263 return fb, b
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264 end
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265
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266 matrix = {}
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267
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268 -- Description: chi^2 test for contingency tables
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269 -- Dependent on: math.igamma()
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270 function matrix.chi2(a)
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271 if #a == 2 and #a[1] == 2 then -- 2x2 table
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272 local x, z
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273 x = (a[1][1] + a[1][2]) * (a[2][1] + a[2][2]) * (a[1][1] + a[2][1]) * (a[1][2] + a[2][2])
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274 if x == 0 then return 0, 1, false end
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275 z = a[1][1] * a[2][2] - a[1][2] * a[2][1]
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276 z = (a[1][1] + a[1][2] + a[2][1] + a[2][2]) * z * z / x
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277 return z, math.igamma(.5, .5 * z, true), true
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278 else -- generic table
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279 local rs, cs, n, m, N, z = {}, {}, #a, #a[1], 0, 0
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280 for i = 1, n do rs[i] = 0 end
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281 for j = 1, m do cs[j] = 0 end
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282 for i = 1, n do -- compute column sum and row sum
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283 for j = 1, m do cs[j], rs[i] = cs[j] + a[i][j], rs[i] + a[i][j] end
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284 end
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285 for i = 1, n do N = N + rs[i] end
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286 for i = 1, n do -- compute the chi^2 statistics
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287 for j = 1, m do
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288 local E = rs[i] * cs[j] / N;
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289 z = z + (a[i][j] - E) * (a[i][j] - E) / E
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290 end
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291 end
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292 return z, math.igamma(.5 * (n-1) * (m-1), .5 * z, true), true;
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293 end
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294 end
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295
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296 ---------------------------------
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297 -- END: routines from klib.lua --
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298 ---------------------------------
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299
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300
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301 --------------------------
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302 -- BEGIN: misc routines --
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303 --------------------------
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304
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305 -- precompute an array for PL->probability conversion
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306 -- @param m maximum PL
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307 function algo_init_q2p(m)
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308 local q2p = {}
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309 for i = 0, m do
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310 q2p[i] = math.pow(10, -i / 10)
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311 end
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312 return q2p
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313 end
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314
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315 -- given the haplotype frequency, compute r^2
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316 -- @param f 4 haplotype frequencies; f[] is 0-indexed.
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317 -- @return r^2
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318 function algo_r2(f)
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319 local p = { f[0] + f[1], f[0] + f[2] }
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320 local D = f[0] * f[3] - f[1] * f[2]
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321 return (p[1] == 0 or p[2] == 0 or 1-p[1] == 0 or 1-p[2] == 0) and 0 or D * D / (p[1] * p[2] * (1 - p[1]) * (1 - p[2]))
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322 end
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323
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324 -- parse a VCF line to get PL
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325 -- @param q2p is computed by algo_init_q2p()
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326 function text_parse_pl(t, q2p, parse_GT)
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327 parse_GT = parse_GT == nil and true or false
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328 local ht, gt, pl = {}, {}, {}
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329 local s, j0 = t[9]:split(':'), 0
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330 for j = 1, #s do
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331 if s[j] == 'PL' then j0 = j break end
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332 end
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333 local has_GT = (s[1] == 'GT' and parse_GT) and true or false
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334 for i = 10, #t do
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335 if j0 > 0 then
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336 local s = t[i]:split(':')
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337 local a, b = 1, s[j0]:find(',')
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338 pl[#pl+1] = q2p[tonumber(s[j0]:sub(a, b - 1))]
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339 a, b = b + 1, s[j0]:find(',', b + 1)
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340 pl[#pl+1] = q2p[tonumber(s[j0]:sub(a, b - 1))]
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341 a, b = b + 1, s[j0]:find(',', b + 1)
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342 pl[#pl+1] = q2p[tonumber(s[j0]:sub(a, (b and b - 1) or nil))]
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343 end
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344 if has_GT then
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345 if t[i]:sub(1, 1) ~= '.' then
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346 local g = tonumber(t[i]:sub(1, 1)) + tonumber(t[i]:sub(3, 3));
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347 gt[#gt+1] = 1e-6; gt[#gt+1] = 1e-6; gt[#gt+1] = 1e-6
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348 gt[#gt - 2 + g] = 1
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349 ht[#ht+1] = tonumber(t[i]:sub(1, 1)); ht[#ht+1] = tonumber(t[i]:sub(3, 3));
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350 else
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351 gt[#gt+1] = 1; gt[#gt+1] = 1; gt[#gt+1] = 1
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352 ht[#ht+1] = -1; ht[#ht+1] = -1;
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353 end
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354 end
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355 -- print(t[i], pl[#pl-2], pl[#pl-1], pl[#pl], gt[#gt-2], gt[#gt-1], gt[#gt])
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356 end
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357 if #pl == 0 then pl = nil end
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358 local x = has_GT and { t[1], t[2], ht, gt, pl } or { t[1], t[2], nil, nil, pl }
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359 return x
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360 end
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361
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362 -- Infer haplotype frequency
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363 -- @param pdg genotype likelihoods P(D|g) generated by text_parse_pl(). pdg[] is 1-indexed.
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364 -- @param eps precision [1e-5]
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365 -- @return 2-locus haplotype frequencies, 0-indexed array
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366 function algo_hapfreq2(pdg, eps)
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367 eps = eps or 1e-5
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368 local n, f = #pdg[1] / 3, {[0]=0.25, 0.25, 0.25, 0.25}
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369 for iter = 1, 100 do
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370 local F = {[0]=0, 0, 0, 0}
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371 for i = 0, n - 1 do
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372 local p1, p2 = {[0]=pdg[1][i*3+1], pdg[1][i*3+2], pdg[1][i*3+3]}, {[0]=pdg[2][i*3+1], pdg[2][i*3+2], pdg[2][i*3+3]}
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373 local u = { [0]=
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374 f[0] * (f[0] * p1[0] * p2[0] + f[1] * p1[0] * p2[1] + f[2] * p1[1] * p2[0] + f[3] * p1[1] * p2[1]),
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375 f[1] * (f[0] * p1[0] * p2[1] + f[1] * p1[0] * p2[2] + f[2] * p1[1] * p2[1] + f[3] * p1[1] * p2[2]),
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376 f[2] * (f[0] * p1[1] * p2[0] + f[1] * p1[1] * p2[1] + f[2] * p1[2] * p2[0] + f[3] * p1[2] * p2[1]),
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377 f[3] * (f[0] * p1[1] * p2[1] + f[1] * p1[1] * p2[2] + f[2] * p1[2] * p2[1] + f[3] * p1[2] * p2[2])
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378 }
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379 local s = u[0] + u[1] + u[2] + u[3]
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380 s = 1 / (s * n)
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381 F[0] = F[0] + u[0] * s
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382 F[1] = F[1] + u[1] * s
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383 F[2] = F[2] + u[2] * s
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384 F[3] = F[3] + u[3] * s
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385 end
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386 local e = 0
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387 for k = 0, 3 do
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388 e = math.abs(f[k] - F[k]) > e and math.abs(f[k] - F[k]) or e
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389 end
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390 for k = 0, 3 do f[k] = F[k] end
|
|
391 if e < eps then break end
|
|
392 -- print(f[0], f[1], f[2], f[3])
|
|
393 end
|
|
394 return f
|
|
395 end
|
|
396
|
|
397 ------------------------
|
|
398 -- END: misc routines --
|
|
399 ------------------------
|
|
400
|
|
401
|
|
402 ---------------------
|
|
403 -- BEGIN: commands --
|
|
404 ---------------------
|
|
405
|
|
406 -- CMD vcf2bgl: convert PL tagged VCF to Beagle input --
|
|
407 function cmd_vcf2bgl()
|
|
408 if #arg == 0 then
|
|
409 print("\nUsage: vcf2bgl.lua <in.vcf>")
|
|
410 print("\nNB: This command finds PL by matching /(\\d+),(\\d+),(\\d+)/.\n");
|
|
411 os.exit(1)
|
|
412 end
|
|
413
|
|
414 local lookup = {}
|
|
415 for i = 0, 10000 do lookup[i] = string.format("%.4f", math.pow(10, -i/10)) end
|
|
416
|
|
417 local fp = io.xopen(arg[1])
|
|
418 for l in fp:lines() do
|
|
419 if l:sub(1, 2) == '##' then -- meta lines; do nothing
|
|
420 elseif l:sub(1, 1) == '#' then -- sample lines
|
|
421 local t, s = l:split('\t'), {}
|
|
422 for i = 10, #t do s[#s+1] = t[i]; s[#s+1] = t[i]; s[#s+1] = t[i] end
|
|
423 print('marker', 'alleleA', 'alleleB', table.concat(s, '\t'))
|
|
424 else -- data line
|
|
425 local t = l:split('\t');
|
|
426 if t[5] ~= '.' and t[5]:find(",") == nil and #t[5] == 1 and #t[4] == 1 then -- biallic SNP
|
|
427 local x, z = -1, {};
|
|
428 if t[9]:find('PL') then
|
|
429 for i = 10, #t do
|
|
430 local AA, Aa, aa = t[i]:match('(%d+),(%d+),(%d+)')
|
|
431 AA = tonumber(AA); Aa = tonumber(Aa); aa = tonumber(aa);
|
|
432 if AA ~= nil then
|
|
433 z[#z+1] = lookup[AA]; z[#z+1] = lookup[Aa]; z[#z+1] = lookup[aa];
|
|
434 else z[#z+1] = 1; z[#z+1] = 1; z[#z+1] = 1; end
|
|
435 end
|
|
436 print(t[1]..':'..t[2], t[4], t[5], table.concat(z, '\t'))
|
|
437 elseif t[9]:find('GL') then
|
|
438 print('Error: not implemented')
|
|
439 os.exit(1)
|
|
440 end
|
|
441 end
|
|
442 end
|
|
443 end
|
|
444 fp:close()
|
|
445 end
|
|
446
|
|
447 -- CMD bgl2vcf: convert Beagle output to VCF
|
|
448 function cmd_bgl2vcf()
|
|
449 if #arg < 2 then
|
|
450 print('Usage: bgl2vcf.lua <in.phased> <in.gprobs>')
|
|
451 os.exit(1)
|
|
452 end
|
|
453
|
|
454 local fpp = io.xopen(arg[1]);
|
|
455 local fpg = io.xopen(arg[2]);
|
|
456 for lg in fpg:lines() do
|
|
457 local tp, tg, a = fpp:read():split('%s'), lg:split('%s', 4), {}
|
|
458 if tp[1] == 'I' then
|
|
459 for i = 3, #tp, 2 do a[#a+1] = tp[i] end
|
|
460 print('#CHROM', 'POS', 'ID', 'REF', 'ALT', 'QUAL', 'FILTER', 'INFO', 'FORMAT', table.concat(a, '\t'))
|
|
461 else
|
|
462 local chr, pos = tg[1]:match('(%S+):(%d+)$')
|
|
463 a = {chr, pos, '.', tg[2], tg[3], 30, '.', '.', 'GT'}
|
|
464 for i = 3, #tp, 2 do
|
|
465 a[#a+1] = ((tp[i] == tg[2] and 0) or 1) .. '|' .. ((tp[i+1] == tg[2] and 0) or 1)
|
|
466 end
|
|
467 print(table.concat(a, '\t'))
|
|
468 end
|
|
469 end
|
|
470 fpg:close(); fpp:close();
|
|
471 end
|
|
472
|
|
473 -- CMD freq: count alleles in each population
|
|
474 function cmd_freq()
|
|
475 -- parse the command line
|
|
476 local site_only = true; -- print site allele frequency or not
|
|
477 for c in os.getopt(arg, 's') do
|
|
478 if c == 's' then site_only = false end
|
|
479 end
|
|
480 if #arg == 0 then
|
|
481 print("\nUsage: vcfutils.lua freq [-s] <in.vcf> [samples.txt]\n")
|
|
482 print("NB: 1) This command only considers biallelic variants.")
|
|
483 print(" 2) Apply '-s' to get the allele frequency spectrum.")
|
|
484 print(" 3) 'samples.txt' is TAB-delimited with each line consisting of sample and population.")
|
|
485 print("")
|
|
486 os.exit(1)
|
|
487 end
|
|
488
|
|
489 -- read the sample-population pairs
|
|
490 local pop, sample = {}, {}
|
|
491 if #arg > 1 then
|
|
492 local fp = io.xopen(arg[2]);
|
|
493 for l in fp:lines() do
|
|
494 local s, p = l:match("^(%S+)%s+(%S+)"); -- sample, population pair
|
|
495 sample[s] = p; -- FIXME: check duplications
|
|
496 if pop[p] then table.insert(pop[p], s)
|
|
497 else pop[p] = {s} end
|
|
498 end
|
|
499 fp:close();
|
|
500 end
|
|
501 pop['NA'] = {}
|
|
502
|
|
503 -- parse VCF
|
|
504 fp = (#arg >= 2 and io.xopen(arg[1])) or io.stdin;
|
|
505 local col, cnt = {}, {};
|
|
506 for k in pairs(pop) do
|
|
507 col[k], cnt[k] = {}, {[0]=0};
|
|
508 end
|
|
509 for l in fp:lines() do
|
|
510 if l:sub(1, 2) == '##' then -- meta lines; do nothing
|
|
511 elseif l:sub(1, 1) == '#' then -- the sample line
|
|
512 local t, del_NA = l:split('\t'), true;
|
|
513 for i = 10, #t do
|
|
514 local k = sample[t[i]]
|
|
515 if k == nil then
|
|
516 k, del_NA = 'NA', false
|
|
517 table.insert(pop[k], t[i])
|
|
518 end
|
|
519 table.insert(col[k], i);
|
|
520 table.insert(cnt[k], 0);
|
|
521 table.insert(cnt[k], 0);
|
|
522 end
|
|
523 if del_NA then pop['NA'], col['NA'], cnt['NA'] = nil, nil, nil end
|
|
524 else -- data lines
|
|
525 local t = l:split('\t');
|
|
526 if t[5] ~= '.' and t[5]:find(",") == nil then -- biallic
|
|
527 if site_only == true then io.write(t[1], '\t', t[2], '\t', t[4], '\t', t[5]) end
|
|
528 for k, v in pairs(col) do
|
|
529 local ac, an = 0, 0;
|
|
530 for i = 1, #v do
|
|
531 local a1, a2 = t[v[i]]:match("^(%d).(%d)");
|
|
532 if a1 ~= nil then ac, an = ac + a1 + a2, an + 2 end
|
|
533 end
|
|
534 if site_only == true then io.write('\t', k, ':', an, ':', ac) end
|
|
535 if an == #cnt[k] then cnt[k][ac] = cnt[k][ac] + 1 end
|
|
536 end
|
|
537 if site_only == true then io.write('\n') end
|
|
538 end
|
|
539 end
|
|
540 end
|
|
541 fp:close();
|
|
542
|
|
543 -- print
|
|
544 if site_only == false then
|
|
545 for k, v in pairs(cnt) do
|
|
546 io.write(k .. "\t" .. #v);
|
|
547 for i = 0, #v do io.write("\t" .. v[i]) end
|
|
548 io.write('\n');
|
|
549 end
|
|
550 end
|
|
551 end
|
|
552
|
|
553 function cmd_vcf2chi2()
|
|
554 if #arg < 3 then
|
|
555 print("Usage: vcfutils.lua vcf2chi2 <in.vcf> <group1.list> <group2.list>");
|
|
556 os.exit(1)
|
|
557 end
|
|
558
|
|
559 local g = {};
|
|
560
|
|
561 -- read the list of groups
|
|
562 local fp = io.xopen(arg[2]);
|
|
563 for l in fp:lines() do local x = l:match("^(%S+)"); g[x] = 1 end -- FIXME: check duplicate
|
|
564 fp:close()
|
|
565 fp = io.xopen(arg[3]);
|
|
566 for l in fp:lines() do local x = l:match("^(%S+)"); g[x] = 2 end
|
|
567 fp:close()
|
|
568
|
|
569 -- process VCF
|
|
570 fp = io.xopen(arg[1])
|
|
571 local h = {{}, {}}
|
|
572 for l in fp:lines() do
|
|
573 if l:sub(1, 2) == '##' then print(l) -- meta lines; do nothing
|
|
574 elseif l:sub(1, 1) == '#' then -- sample lines
|
|
575 local t = l:split('\t');
|
|
576 for i = 10, #t do
|
|
577 if g[t[i]] == 1 then table.insert(h[1], i)
|
|
578 elseif g[t[i]] == 2 then table.insert(h[2], i) end
|
|
579 end
|
|
580 while #t > 8 do table.remove(t) end
|
|
581 print(table.concat(t, "\t"))
|
|
582 else -- data line
|
|
583 local t = l:split('\t');
|
|
584 if t[5] ~= '.' and t[5]:find(",") == nil then -- biallic
|
|
585 local a = {{0, 0}, {0, 0}}
|
|
586 for i = 1, 2 do
|
|
587 for _, k in pairs(h[i]) do
|
|
588 if t[k]:find("^0.0") then a[i][1] = a[i][1] + 2
|
|
589 elseif t[k]:find("^1.1") then a[i][2] = a[i][2] + 2
|
|
590 elseif t[k]:find("^0.1") or t[k]:find("^1.0") then
|
|
591 a[i][1], a[i][2] = a[i][1] + 1, a[i][2] + 1
|
|
592 end
|
|
593 end
|
|
594 end
|
|
595 local chi2, p, succ = matrix.chi2(a);
|
|
596 while #t > 8 do table.remove(t) end
|
|
597 --print(a[1][1], a[1][2], a[2][1], a[2][2], chi2, p);
|
|
598 if succ then print(table.concat(t, "\t") .. ";PCHI2=" .. string.format("%.3g", p)
|
|
599 .. string.format(';AF1=%.4g;AF2=%.4g,%.4g', (a[1][2]+a[2][2]) / (a[1][1]+a[1][2]+a[2][1]+a[2][2]),
|
|
600 a[1][2]/(a[1][1]+a[1][2]), a[2][2]/(a[2][1]+a[2][2])))
|
|
601 else print(table.concat(t, "\t")) end
|
|
602 end
|
|
603 end
|
|
604 end
|
|
605 fp:close()
|
|
606 end
|
|
607
|
|
608 -- CMD: compute r^2
|
|
609 function cmd_r2()
|
|
610 local w, is_ht, is_gt = 1, false, false
|
|
611 for o, a in os.getopt(arg, 'w:hg') do
|
|
612 if o == 'w' then w = tonumber(a)
|
|
613 elseif o == 'h' then is_ht, is_gt = true, true
|
|
614 elseif o == 'g' then is_gt = true
|
|
615 end
|
|
616 end
|
|
617 if #arg == 0 then
|
|
618 print("Usage: vcfutils.lua r2 [-hg] [-w 1] <in.vcf>")
|
|
619 os.exit(1)
|
|
620 end
|
|
621 local stack, fp, q2p = {}, io.xopen(arg[1]), algo_init_q2p(1023)
|
|
622 for l in fp:lines() do
|
|
623 if l:sub(1, 1) ~= '#' then
|
|
624 local t = l:split('\t')
|
|
625 local x = text_parse_pl(t, q2p)
|
|
626 if #t[5] == 1 and t[5] ~= '.' then -- biallelic
|
|
627 local r2 = {}
|
|
628 for k = 1, w do
|
|
629 if is_gt == false then -- use PL
|
|
630 if stack[k] then
|
|
631 local pdg = { stack[k][5], x[5] }
|
|
632 r2[#r2+1] = algo_r2(algo_hapfreq2(pdg))
|
|
633 else r2[#r2+1] = 0 end
|
|
634 elseif is_ht == false then -- use unphased GT
|
|
635 if stack[k] then
|
|
636 local pdg = { stack[k][4], x[4] }
|
|
637 r2[#r2+1] = algo_r2(algo_hapfreq2(pdg))
|
|
638 else r2[#r2+1] = 0 end
|
|
639 else -- use phased GT
|
|
640 if stack[k] then
|
|
641 local f, ht = { [0]=0, 0, 0, 0 }, { stack[k][3], x[3] }
|
|
642 for i = 1, #ht[1] do
|
|
643 local j = ht[1][i] * 2 + ht[2][i]
|
|
644 f[j] = f[j] + 1
|
|
645 end
|
|
646 local sum = f[0] + f[1] + f[2] + f[3]
|
|
647 for k = 0, 3 do f[k] = f[k] / sum end
|
|
648 r2[#r2+1] = algo_r2(f)
|
|
649 else r2[#r2+1] = 0 end
|
|
650 end
|
|
651 end
|
|
652 for k = 1, #r2 do
|
|
653 r2[k] = string.format('%.3f', r2[k])
|
|
654 end
|
|
655 print(x[1], x[2], table.concat(r2, '\t'))
|
|
656 if #stack == w then table.remove(stack, 1) end
|
|
657 stack[#stack+1] = x
|
|
658 end
|
|
659 end
|
|
660 end
|
|
661 fp:close()
|
|
662 end
|
|
663
|
|
664 -------------------
|
|
665 -- END: commands --
|
|
666 -------------------
|
|
667
|
|
668
|
|
669 -------------------
|
|
670 -- MAIN FUNCTION --
|
|
671 -------------------
|
|
672
|
|
673 if #arg == 0 then
|
|
674 print("\nUsage: vcfutils.lua <command> <arguments>\n")
|
|
675 print("Command: freq count biallelic alleles in each population")
|
|
676 print(" r2 compute r^2")
|
|
677 print(" vcf2chi2 compute 1-degree chi-square between two groups of samples")
|
|
678 print(" vcf2bgl convert PL annotated VCF to Beagle input")
|
|
679 print(" bgl2vcf convert Beagle input to VCF")
|
|
680 print("")
|
|
681 os.exit(1)
|
|
682 end
|
|
683
|
|
684 local cmd = arg[1]
|
|
685 table.remove(arg, 1)
|
|
686 if cmd == 'vcf2bgl' then cmd_vcf2bgl()
|
|
687 elseif cmd == 'bgl2vcf' then cmd_bgl2vcf()
|
|
688 elseif cmd == 'freq' then cmd_freq()
|
|
689 elseif cmd == 'r2' then cmd_r2()
|
|
690 elseif cmd == 'vcf2chi2' then cmd_vcf2chi2()
|
|
691 else
|
|
692 print('ERROR: unknown command "' .. cmd .. '"')
|
|
693 os.exit(1)
|
|
694 end
|