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1 #!/usr/bin/env python2.4
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2 """
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3 """
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4
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5 import optparse,os,subprocess,gzip,struct,time,commands
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6 from array import array
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7
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8 #from AIMS import util
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9 #from pga import util as pgautil
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10
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11 __FILE_ID__ = '$Id: plinkbinJZ.py,v 1.14 2009/07/13 20:16:50 rejpz Exp $'
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12
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13 VERBOSE = True
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14
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15 MISSING_ALLELES = set(['N', '0', '.', '-',''])
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16
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17 AUTOSOMES = set(range(1, 23) + [str(c) for c in range(1, 23)])
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18
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19 MAGIC_BYTE1 = '00110110'
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20 MAGIC_BYTE2 = '11011000'
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21 FORMAT_SNP_MAJOR_BYTE = '10000000'
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22 FORMAT_IND_MAJOR_BYTE = '00000000'
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23 MAGIC1 = (0, 3, 1, 2)
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24 MAGIC2 = (3, 1, 2, 0)
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25 FORMAT_SNP_MAJOR = (2, 0, 0, 0)
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26 FORMAT_IND_MAJOR = (0, 0, 0, 0)
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27 HEADER_LENGTH = 3
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28
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29 HOM0 = 3
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30 HOM1 = 0
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31 MISS = 2
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32 HET = 1
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33 HOM0_GENO = (0, 0)
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34 HOM1_GENO = (1, 1)
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35 HET_GENO = (0, 1)
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36 MISS_GENO = (-9, -9)
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37
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38 GENO_TO_GCODE = {
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39 HOM0_GENO: HOM0,
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40 HET_GENO: HET,
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41 HOM1_GENO: HOM1,
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42 MISS_GENO: MISS,
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43 }
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44
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45 CHROM_REPLACE = {
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46 'X': '23',
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47 'Y': '24',
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48 'XY': '25',
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49 'MT': '26',
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50 'M': '26',
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51 }
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52
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53 MAP_LINE_EXCEPTION_TEXT = """
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54 One or more lines in the *.map file has only three fields.
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55 The line was:
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56
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57 %s
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58
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59 If you are running rgGRR through EPMP, this is usually a
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60 sign that you are using an old version of the map file.
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61 You can correct the problem by re-running Subject QC. If
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62 you have already tried this, please contact the developers,
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63 or file a bug.
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64 """
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65
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66 INT_TO_GCODE = {
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67 0: array('i', (0, 0, 0, 0)), 1: array('i', (2, 0, 0, 0)), 2: array('i', (1, 0, 0, 0)), 3: array('i', (3, 0, 0, 0)),
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68 4: array('i', (0, 2, 0, 0)), 5: array('i', (2, 2, 0, 0)), 6: array('i', (1, 2, 0, 0)), 7: array('i', (3, 2, 0, 0)),
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69 8: array('i', (0, 1, 0, 0)), 9: array('i', (2, 1, 0, 0)), 10: array('i', (1, 1, 0, 0)), 11: array('i', (3, 1, 0, 0)),
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70 12: array('i', (0, 3, 0, 0)), 13: array('i', (2, 3, 0, 0)), 14: array('i', (1, 3, 0, 0)), 15: array('i', (3, 3, 0, 0)),
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71 16: array('i', (0, 0, 2, 0)), 17: array('i', (2, 0, 2, 0)), 18: array('i', (1, 0, 2, 0)), 19: array('i', (3, 0, 2, 0)),
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72 20: array('i', (0, 2, 2, 0)), 21: array('i', (2, 2, 2, 0)), 22: array('i', (1, 2, 2, 0)), 23: array('i', (3, 2, 2, 0)),
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73 24: array('i', (0, 1, 2, 0)), 25: array('i', (2, 1, 2, 0)), 26: array('i', (1, 1, 2, 0)), 27: array('i', (3, 1, 2, 0)),
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74 28: array('i', (0, 3, 2, 0)), 29: array('i', (2, 3, 2, 0)), 30: array('i', (1, 3, 2, 0)), 31: array('i', (3, 3, 2, 0)),
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75 32: array('i', (0, 0, 1, 0)), 33: array('i', (2, 0, 1, 0)), 34: array('i', (1, 0, 1, 0)), 35: array('i', (3, 0, 1, 0)),
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76 36: array('i', (0, 2, 1, 0)), 37: array('i', (2, 2, 1, 0)), 38: array('i', (1, 2, 1, 0)), 39: array('i', (3, 2, 1, 0)),
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77 40: array('i', (0, 1, 1, 0)), 41: array('i', (2, 1, 1, 0)), 42: array('i', (1, 1, 1, 0)), 43: array('i', (3, 1, 1, 0)),
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78 44: array('i', (0, 3, 1, 0)), 45: array('i', (2, 3, 1, 0)), 46: array('i', (1, 3, 1, 0)), 47: array('i', (3, 3, 1, 0)),
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79 48: array('i', (0, 0, 3, 0)), 49: array('i', (2, 0, 3, 0)), 50: array('i', (1, 0, 3, 0)), 51: array('i', (3, 0, 3, 0)),
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80 52: array('i', (0, 2, 3, 0)), 53: array('i', (2, 2, 3, 0)), 54: array('i', (1, 2, 3, 0)), 55: array('i', (3, 2, 3, 0)),
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81 56: array('i', (0, 1, 3, 0)), 57: array('i', (2, 1, 3, 0)), 58: array('i', (1, 1, 3, 0)), 59: array('i', (3, 1, 3, 0)),
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82 60: array('i', (0, 3, 3, 0)), 61: array('i', (2, 3, 3, 0)), 62: array('i', (1, 3, 3, 0)), 63: array('i', (3, 3, 3, 0)),
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83 64: array('i', (0, 0, 0, 2)), 65: array('i', (2, 0, 0, 2)), 66: array('i', (1, 0, 0, 2)), 67: array('i', (3, 0, 0, 2)),
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84 68: array('i', (0, 2, 0, 2)), 69: array('i', (2, 2, 0, 2)), 70: array('i', (1, 2, 0, 2)), 71: array('i', (3, 2, 0, 2)),
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85 72: array('i', (0, 1, 0, 2)), 73: array('i', (2, 1, 0, 2)), 74: array('i', (1, 1, 0, 2)), 75: array('i', (3, 1, 0, 2)),
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86 76: array('i', (0, 3, 0, 2)), 77: array('i', (2, 3, 0, 2)), 78: array('i', (1, 3, 0, 2)), 79: array('i', (3, 3, 0, 2)),
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87 80: array('i', (0, 0, 2, 2)), 81: array('i', (2, 0, 2, 2)), 82: array('i', (1, 0, 2, 2)), 83: array('i', (3, 0, 2, 2)),
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88 84: array('i', (0, 2, 2, 2)), 85: array('i', (2, 2, 2, 2)), 86: array('i', (1, 2, 2, 2)), 87: array('i', (3, 2, 2, 2)),
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89 88: array('i', (0, 1, 2, 2)), 89: array('i', (2, 1, 2, 2)), 90: array('i', (1, 1, 2, 2)), 91: array('i', (3, 1, 2, 2)),
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90 92: array('i', (0, 3, 2, 2)), 93: array('i', (2, 3, 2, 2)), 94: array('i', (1, 3, 2, 2)), 95: array('i', (3, 3, 2, 2)),
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91 96: array('i', (0, 0, 1, 2)), 97: array('i', (2, 0, 1, 2)), 98: array('i', (1, 0, 1, 2)), 99: array('i', (3, 0, 1, 2)),
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92 100: array('i', (0, 2, 1, 2)), 101: array('i', (2, 2, 1, 2)), 102: array('i', (1, 2, 1, 2)), 103: array('i', (3, 2, 1, 2)),
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93 104: array('i', (0, 1, 1, 2)), 105: array('i', (2, 1, 1, 2)), 106: array('i', (1, 1, 1, 2)), 107: array('i', (3, 1, 1, 2)),
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94 108: array('i', (0, 3, 1, 2)), 109: array('i', (2, 3, 1, 2)), 110: array('i', (1, 3, 1, 2)), 111: array('i', (3, 3, 1, 2)),
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95 112: array('i', (0, 0, 3, 2)), 113: array('i', (2, 0, 3, 2)), 114: array('i', (1, 0, 3, 2)), 115: array('i', (3, 0, 3, 2)),
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96 116: array('i', (0, 2, 3, 2)), 117: array('i', (2, 2, 3, 2)), 118: array('i', (1, 2, 3, 2)), 119: array('i', (3, 2, 3, 2)),
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97 120: array('i', (0, 1, 3, 2)), 121: array('i', (2, 1, 3, 2)), 122: array('i', (1, 1, 3, 2)), 123: array('i', (3, 1, 3, 2)),
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98 124: array('i', (0, 3, 3, 2)), 125: array('i', (2, 3, 3, 2)), 126: array('i', (1, 3, 3, 2)), 127: array('i', (3, 3, 3, 2)),
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99 128: array('i', (0, 0, 0, 1)), 129: array('i', (2, 0, 0, 1)), 130: array('i', (1, 0, 0, 1)), 131: array('i', (3, 0, 0, 1)),
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100 132: array('i', (0, 2, 0, 1)), 133: array('i', (2, 2, 0, 1)), 134: array('i', (1, 2, 0, 1)), 135: array('i', (3, 2, 0, 1)),
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101 136: array('i', (0, 1, 0, 1)), 137: array('i', (2, 1, 0, 1)), 138: array('i', (1, 1, 0, 1)), 139: array('i', (3, 1, 0, 1)),
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102 140: array('i', (0, 3, 0, 1)), 141: array('i', (2, 3, 0, 1)), 142: array('i', (1, 3, 0, 1)), 143: array('i', (3, 3, 0, 1)),
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103 144: array('i', (0, 0, 2, 1)), 145: array('i', (2, 0, 2, 1)), 146: array('i', (1, 0, 2, 1)), 147: array('i', (3, 0, 2, 1)),
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104 148: array('i', (0, 2, 2, 1)), 149: array('i', (2, 2, 2, 1)), 150: array('i', (1, 2, 2, 1)), 151: array('i', (3, 2, 2, 1)),
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105 152: array('i', (0, 1, 2, 1)), 153: array('i', (2, 1, 2, 1)), 154: array('i', (1, 1, 2, 1)), 155: array('i', (3, 1, 2, 1)),
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106 156: array('i', (0, 3, 2, 1)), 157: array('i', (2, 3, 2, 1)), 158: array('i', (1, 3, 2, 1)), 159: array('i', (3, 3, 2, 1)),
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107 160: array('i', (0, 0, 1, 1)), 161: array('i', (2, 0, 1, 1)), 162: array('i', (1, 0, 1, 1)), 163: array('i', (3, 0, 1, 1)),
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108 164: array('i', (0, 2, 1, 1)), 165: array('i', (2, 2, 1, 1)), 166: array('i', (1, 2, 1, 1)), 167: array('i', (3, 2, 1, 1)),
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109 168: array('i', (0, 1, 1, 1)), 169: array('i', (2, 1, 1, 1)), 170: array('i', (1, 1, 1, 1)), 171: array('i', (3, 1, 1, 1)),
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110 172: array('i', (0, 3, 1, 1)), 173: array('i', (2, 3, 1, 1)), 174: array('i', (1, 3, 1, 1)), 175: array('i', (3, 3, 1, 1)),
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111 176: array('i', (0, 0, 3, 1)), 177: array('i', (2, 0, 3, 1)), 178: array('i', (1, 0, 3, 1)), 179: array('i', (3, 0, 3, 1)),
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112 180: array('i', (0, 2, 3, 1)), 181: array('i', (2, 2, 3, 1)), 182: array('i', (1, 2, 3, 1)), 183: array('i', (3, 2, 3, 1)),
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113 184: array('i', (0, 1, 3, 1)), 185: array('i', (2, 1, 3, 1)), 186: array('i', (1, 1, 3, 1)), 187: array('i', (3, 1, 3, 1)),
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114 188: array('i', (0, 3, 3, 1)), 189: array('i', (2, 3, 3, 1)), 190: array('i', (1, 3, 3, 1)), 191: array('i', (3, 3, 3, 1)),
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115 192: array('i', (0, 0, 0, 3)), 193: array('i', (2, 0, 0, 3)), 194: array('i', (1, 0, 0, 3)), 195: array('i', (3, 0, 0, 3)),
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116 196: array('i', (0, 2, 0, 3)), 197: array('i', (2, 2, 0, 3)), 198: array('i', (1, 2, 0, 3)), 199: array('i', (3, 2, 0, 3)),
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117 200: array('i', (0, 1, 0, 3)), 201: array('i', (2, 1, 0, 3)), 202: array('i', (1, 1, 0, 3)), 203: array('i', (3, 1, 0, 3)),
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118 204: array('i', (0, 3, 0, 3)), 205: array('i', (2, 3, 0, 3)), 206: array('i', (1, 3, 0, 3)), 207: array('i', (3, 3, 0, 3)),
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119 208: array('i', (0, 0, 2, 3)), 209: array('i', (2, 0, 2, 3)), 210: array('i', (1, 0, 2, 3)), 211: array('i', (3, 0, 2, 3)),
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120 212: array('i', (0, 2, 2, 3)), 213: array('i', (2, 2, 2, 3)), 214: array('i', (1, 2, 2, 3)), 215: array('i', (3, 2, 2, 3)),
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121 216: array('i', (0, 1, 2, 3)), 217: array('i', (2, 1, 2, 3)), 218: array('i', (1, 1, 2, 3)), 219: array('i', (3, 1, 2, 3)),
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122 220: array('i', (0, 3, 2, 3)), 221: array('i', (2, 3, 2, 3)), 222: array('i', (1, 3, 2, 3)), 223: array('i', (3, 3, 2, 3)),
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123 224: array('i', (0, 0, 1, 3)), 225: array('i', (2, 0, 1, 3)), 226: array('i', (1, 0, 1, 3)), 227: array('i', (3, 0, 1, 3)),
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124 228: array('i', (0, 2, 1, 3)), 229: array('i', (2, 2, 1, 3)), 230: array('i', (1, 2, 1, 3)), 231: array('i', (3, 2, 1, 3)),
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125 232: array('i', (0, 1, 1, 3)), 233: array('i', (2, 1, 1, 3)), 234: array('i', (1, 1, 1, 3)), 235: array('i', (3, 1, 1, 3)),
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126 236: array('i', (0, 3, 1, 3)), 237: array('i', (2, 3, 1, 3)), 238: array('i', (1, 3, 1, 3)), 239: array('i', (3, 3, 1, 3)),
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127 240: array('i', (0, 0, 3, 3)), 241: array('i', (2, 0, 3, 3)), 242: array('i', (1, 0, 3, 3)), 243: array('i', (3, 0, 3, 3)),
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128 244: array('i', (0, 2, 3, 3)), 245: array('i', (2, 2, 3, 3)), 246: array('i', (1, 2, 3, 3)), 247: array('i', (3, 2, 3, 3)),
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129 248: array('i', (0, 1, 3, 3)), 249: array('i', (2, 1, 3, 3)), 250: array('i', (1, 1, 3, 3)), 251: array('i', (3, 1, 3, 3)),
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130 252: array('i', (0, 3, 3, 3)), 253: array('i', (2, 3, 3, 3)), 254: array('i', (1, 3, 3, 3)), 255: array('i', (3, 3, 3, 3)),
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131 }
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132
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133 GCODE_TO_INT = dict([(tuple(v),k) for (k,v) in INT_TO_GCODE.items()])
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134
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135 ### Exceptions
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136 class DuplicateMarkerInMapFile(Exception): pass
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137 class MapLineTooShort(Exception): pass
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138 class ThirdAllele(Exception): pass
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139 class PedError(Exception): pass
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140 class BadMagic(Exception):
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141 """ Raised when one of the MAGIC bytes in a bed file does not match
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142 """
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143 pass
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144 class BedError(Exception):
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145 """ Raised when parsing a bed file runs into problems
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146 """
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147 pass
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148 class UnknownGenocode(Exception):
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149 """ Raised when we get a 2-bit genotype that is undecipherable (is it possible?)
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150 """
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151 pass
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152 class UnknownGeno(Exception): pass
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153
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154 ### Utility functions
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155
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156 def timenow():
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157 """return current time as a string
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158 """
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159 return time.strftime('%d/%m/%Y %H:%M:%S', time.localtime(time.time()))
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160
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161 def ceiling(n, k):
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162 ''' Return the least multiple of k which is greater than n
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163 '''
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164 m = n % k
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165 if m == 0:
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166 return n
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167 else:
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168 return n + k - m
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169
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170 def nbytes(n):
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171 ''' Return the number of bytes required for n subjects
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172 '''
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173 return 2*ceiling(n, 4)/8
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174
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175 ### Primary module functionality
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176 class LPed:
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177 """ The uber-class for processing the Linkage-format *.ped/*.map files
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178 """
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179 def __init__(self, base):
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180 self.base = base
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181 self._ped = Ped('%s.ped' % (self.base))
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182 self._map = Map('%s.map' % (self.base))
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183
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184 self._markers = {}
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185 self._ordered_markers = []
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186 self._marker_allele_lookup = {}
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187 self._autosomal_indices = set()
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188
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189 self._subjects = {}
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190 self._ordered_subjects = []
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191
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192 self._genotypes = []
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193
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194 def parse(self):
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195 """
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196 """
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197 if VERBOSE: print 'plinkbinJZ: Analysis started: %s' % (timenow())
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198 self._map.parse()
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199 self._markers = self._map._markers
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200 self._ordered_markers = self._map._ordered_markers
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201 self._autosomal_indices = self._map._autosomal_indices
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202
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203 self._ped.parse(self._ordered_markers)
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204 self._subjects = self._ped._subjects
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205 self._ordered_subjects = self._ped._ordered_subjects
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206 self._genotypes = self._ped._genotypes
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207 self._marker_allele_lookup = self._ped._marker_allele_lookup
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208
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209 ### Adjust self._markers based on the allele information
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210 ### we got from parsing the ped file
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211 for m, name in enumerate(self._ordered_markers):
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212 a1, a2 = self._marker_allele_lookup[m][HET]
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213 self._markers[name][-2] = a1
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214 self._markers[name][-1] = a2
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215 if VERBOSE: print 'plinkbinJZ: Analysis finished: %s' % (timenow())
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216
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217 def getSubjectInfo(self, fid, oiid):
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218 """
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219 """
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220 return self._subject_info[(fid, oiid)]
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221
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222 def getSubjectInfoByLine(self, line):
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223 """
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224 """
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225 return self._subject_info[self._ordered_subjects[line]]
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226
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227 def getGenotypesByIndices(self, s, mlist, format):
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228 """ needed for grr if lped - deprecated but..
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229 """
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230 mlist = dict(zip(mlist,[True,]*len(mlist))) # hash quicker than 'in' ?
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231 raw_array = array('i', [row[s] for m,row in enumerate(self._genotypes) if mlist.get(m,None)])
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232 if format == 'raw':
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233 return raw_array
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234 elif format == 'ref':
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235 result = array('i', [0]*len(mlist))
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236 for m, gcode in enumerate(raw_array):
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237 if gcode == HOM0:
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238 nref = 3
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239 elif gcode == HET:
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240 nref = 2
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241 elif gcode == HOM1:
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242 nref = 1
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243 else:
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244 nref = 0
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245 result[m] = nref
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246 return result
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247 else:
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248 result = []
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249 for m, gcode in enumerate(raw_array):
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250 result.append(self._marker_allele_lookup[m][gcode])
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251 return result
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252
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253 def writebed(self, base):
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254 """
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255 """
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256 dst_name = '%s.fam' % (base)
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257 print 'Writing pedigree information to [ %s ]' % (dst_name)
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258 dst = open(dst_name, 'w')
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259 for skey in self._ordered_subjects:
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260 (fid, iid, did, mid, sex, phe, sid, d_sid, m_sid) = self._subjects[skey]
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261 dst.write('%s %s %s %s %s %s\n' % (fid, iid, did, mid, sex, phe))
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262 dst.close()
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263
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264 dst_name = '%s.bim' % (base)
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265 print 'Writing map (extended format) information to [ %s ]' % (dst_name)
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266 dst = open(dst_name, 'w')
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267 for m, marker in enumerate(self._ordered_markers):
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268 chrom, name, genpos, abspos, a1, a2 = self._markers[marker]
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269 dst.write('%s\t%s\t%s\t%s\t%s\t%s\n' % (chrom, name, genpos, abspos, a1, a2))
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270 dst.close()
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271
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272 bed_name = '%s.bed' % (base)
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273 print 'Writing genotype bitfile to [ %s ]' % (bed_name)
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274 print 'Using (default) SNP-major mode'
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275 bed = open(bed_name, 'w')
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276
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277 ### Write the 3 header bytes
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278 bed.write(struct.pack('B', int(''.join(reversed(MAGIC_BYTE1)), 2)))
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279 bed.write(struct.pack('B', int(''.join(reversed(MAGIC_BYTE2)), 2)))
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280 bed.write(struct.pack('B', int(''.join(reversed(FORMAT_SNP_MAJOR_BYTE)), 2)))
|
|
281
|
|
282 ### Calculate how many "pad bits" we should add after the last subject
|
|
283 nsubjects = len(self._ordered_subjects)
|
|
284 nmarkers = len(self._ordered_markers)
|
|
285 total_bytes = nbytes(nsubjects)
|
|
286 nbits = nsubjects * 2
|
|
287 pad_nibbles = ((total_bytes * 8) - nbits)/2
|
|
288 pad = array('i', [0]*pad_nibbles)
|
|
289
|
|
290 ### And now write genotypes to the file
|
|
291 for m in xrange(nmarkers):
|
|
292 geno = self._genotypes[m]
|
|
293 geno.extend(pad)
|
|
294 bytes = len(geno)/4
|
|
295 for b in range(bytes):
|
|
296 idx = b*4
|
|
297 gcode = tuple(geno[idx:idx+4])
|
|
298 try:
|
|
299 byte = struct.pack('B', GCODE_TO_INT[gcode])
|
|
300 except KeyError:
|
|
301 print m, b, gcode
|
|
302 raise
|
|
303 bed.write(byte)
|
|
304 bed.close()
|
|
305
|
|
306 def autosomal_indices(self):
|
|
307 """ Return the indices of markers in this ped/map that are autosomal.
|
|
308 This is used by rgGRR so that it can select a random set of markers
|
|
309 from the autosomes (sex chroms screw up the plot)
|
|
310 """
|
|
311 return self._autosomal_indices
|
|
312
|
|
313 class Ped:
|
|
314 def __init__(self, path):
|
|
315 self.path = path
|
|
316 self._subjects = {}
|
|
317 self._ordered_subjects = []
|
|
318 self._genotypes = []
|
|
319 self._marker_allele_lookup = {}
|
|
320
|
|
321 def lineCount(self,infile):
|
|
322 """ count the number of lines in a file - efficiently using wget
|
|
323 """
|
|
324 return int(commands.getoutput('wc -l %s' % (infile)).split()[0])
|
|
325
|
|
326
|
|
327 def parse(self, markers):
|
|
328 """ Parse a given file -- this needs to be memory-efficient so that large
|
|
329 files can be parsed (~1 million markers on ~5000 subjects?). It
|
|
330 should also be fast, if possible.
|
|
331 """
|
|
332
|
|
333 ### Find out how many lines are in the file so we can ...
|
|
334 nsubjects = self.lineCount(self.path)
|
|
335 ### ... Pre-allocate the genotype arrays
|
|
336 nmarkers = len(markers)
|
|
337 _marker_alleles = [['0', '0'] for _ in xrange(nmarkers)]
|
|
338 self._genotypes = [array('i', [-1]*nsubjects) for _ in xrange(nmarkers)]
|
|
339
|
|
340 if self.path.endswith('.gz'):
|
|
341 pfile = gzip.open(self.path, 'r')
|
|
342 else:
|
|
343 pfile = open(self.path, 'r')
|
|
344
|
|
345 for s, line in enumerate(pfile):
|
|
346 line = line.strip()
|
|
347 if not line:
|
|
348 continue
|
|
349
|
|
350 fid, iid, did, mid, sex, phe, genos = line.split(None, 6)
|
|
351 sid = iid.split('.')[0]
|
|
352 d_sid = did.split('.')[0]
|
|
353 m_sid = mid.split('.')[0]
|
|
354
|
|
355 skey = (fid, iid)
|
|
356 self._subjects[skey] = (fid, iid, did, mid, sex, phe, sid, d_sid, m_sid)
|
|
357 self._ordered_subjects.append(skey)
|
|
358
|
|
359 genotypes = genos.split()
|
|
360
|
|
361 for m, marker in enumerate(markers):
|
|
362 idx = m*2
|
|
363 a1, a2 = genotypes[idx:idx+2] # Alleles for subject s, marker m
|
|
364 s1, s2 = seen = _marker_alleles[m] # Alleles seen for marker m
|
|
365
|
|
366 ### FIXME: I think this can still be faster, and simpler to read
|
|
367 # Two pieces of logic intertwined here: first, we need to code
|
|
368 # this genotype as HOM0, HOM1, HET or MISS. Second, we need to
|
|
369 # keep an ongoing record of the genotypes seen for this marker
|
|
370 if a1 == a2:
|
|
371 if a1 in MISSING_ALLELES:
|
|
372 geno = MISS_GENO
|
|
373 else:
|
|
374 if s1 == '0':
|
|
375 seen[0] = a1
|
|
376 elif s1 == a1 or s2 == a2:
|
|
377 pass
|
|
378 elif s2 == '0':
|
|
379 seen[1] = a1
|
|
380 else:
|
|
381 raise ThirdAllele('a1=a2=%s, seen=%s?' % (a1, str(seen)))
|
|
382
|
|
383 if a1 == seen[0]:
|
|
384 geno = HOM0_GENO
|
|
385 elif a1 == seen[1]:
|
|
386 geno = HOM1_GENO
|
|
387 else:
|
|
388 raise PedError('Cannot assign geno for a1=a2=%s from seen=%s' % (a1, str(seen)))
|
|
389 elif a1 in MISSING_ALLELES or a2 in MISSING_ALLELES:
|
|
390 geno = MISS_GENO
|
|
391 else:
|
|
392 geno = HET_GENO
|
|
393 if s1 == '0':
|
|
394 seen[0] = a1
|
|
395 seen[1] = a2
|
|
396 elif s2 == '0':
|
|
397 if s1 == a1:
|
|
398 seen[1] = a2
|
|
399 elif s1 == a2:
|
|
400 seen[1] = a1
|
|
401 else:
|
|
402 raise ThirdAllele('a1=%s, a2=%s, seen=%s?' % (a1, a2, str(seen)))
|
|
403 else:
|
|
404 if sorted(seen) != sorted((a1, a2)):
|
|
405 raise ThirdAllele('a1=%s, a2=%s, seen=%s?' % (a1, a2, str(seen)))
|
|
406
|
|
407 gcode = GENO_TO_GCODE.get(geno, None)
|
|
408 if gcode is None:
|
|
409 raise UnknownGeno(str(geno))
|
|
410 self._genotypes[m][s] = gcode
|
|
411
|
|
412 # Build the _marker_allele_lookup table
|
|
413 for m, alleles in enumerate(_marker_alleles):
|
|
414 if len(alleles) == 2:
|
|
415 a1, a2 = alleles
|
|
416 elif len(alleles) == 1:
|
|
417 a1 = alleles[0]
|
|
418 a2 = '0'
|
|
419 else:
|
|
420 print 'All alleles blank for %s: %s' % (m, str(alleles))
|
|
421 raise
|
|
422
|
|
423 self._marker_allele_lookup[m] = {
|
|
424 HOM0: (a2, a2),
|
|
425 HOM1: (a1, a1),
|
|
426 HET : (a1, a2),
|
|
427 MISS: ('0','0'),
|
|
428 }
|
|
429
|
|
430 if VERBOSE: print '%s(%s) individuals read from [ %s ]' % (len(self._subjects), nsubjects, self.path)
|
|
431
|
|
432 class Map:
|
|
433 def __init__(self, path=None):
|
|
434 self.path = path
|
|
435 self._markers = {}
|
|
436 self._ordered_markers = []
|
|
437 self._autosomal_indices = set()
|
|
438
|
|
439 def __len__(self):
|
|
440 return len(self._markers)
|
|
441
|
|
442 def parse(self):
|
|
443 """ Parse a Linkage-format map file
|
|
444 """
|
|
445 if self.path.endswith('.gz'):
|
|
446 fh = gzip.open(self.path, 'r')
|
|
447 else:
|
|
448 fh = open(self.path, 'r')
|
|
449
|
|
450 for i, line in enumerate(fh):
|
|
451 line = line.strip()
|
|
452 if not line:
|
|
453 continue
|
|
454
|
|
455 fields = line.split()
|
|
456 if len(fields) < 4:
|
|
457 raise MapLineTooShort(MAP_LINE_EXCEPTION_TEXT % (str(line), len(fields)))
|
|
458 else:
|
|
459 chrom, name, genpos, abspos = fields
|
|
460 if name in self._markers:
|
|
461 raise DuplicateMarkerInMapFile('Marker %s was found twice in map file %s' % (name, self.path))
|
|
462 abspos = int(abspos)
|
|
463 if abspos < 0:
|
|
464 continue
|
|
465 if chrom in AUTOSOMES:
|
|
466 self._autosomal_indices.add(i)
|
|
467 chrom = CHROM_REPLACE.get(chrom, chrom)
|
|
468 self._markers[name] = [chrom, name, genpos, abspos, None, None]
|
|
469 self._ordered_markers.append(name)
|
|
470 fh.close()
|
|
471 if VERBOSE: print '%s (of %s) markers to be included from [ %s ]' % (len(self._ordered_markers), i, self.path)
|
|
472
|
|
473 class BPed:
|
|
474 """ The uber-class for processing Plink's Binary Ped file format *.bed/*.bim/*.fam
|
|
475 """
|
|
476 def __init__(self, base):
|
|
477 self.base = base
|
|
478 self._bed = Bed('%s.bed' % (self.base))
|
|
479 self._bim = Bim('%s.bim' % (self.base))
|
|
480 self._fam = Fam('%s.fam' % (self.base))
|
|
481
|
|
482 self._markers = {}
|
|
483 self._ordered_markers = []
|
|
484 self._marker_allele_lookup = {}
|
|
485 self._autosomal_indices = set()
|
|
486
|
|
487 self._subjects = {}
|
|
488 self._ordered_subjects = []
|
|
489
|
|
490 self._genotypes = []
|
|
491
|
|
492 def parse(self, quick=False):
|
|
493 """
|
|
494 """
|
|
495 self._quick = quick
|
|
496
|
|
497 self._bim.parse()
|
|
498 self._markers = self._bim._markers
|
|
499 self._ordered_markers = self._bim._ordered_markers
|
|
500 self._marker_allele_lookup = self._bim._marker_allele_lookup
|
|
501 self._autosomal_indices = self._bim._autosomal_indices
|
|
502
|
|
503 self._fam.parse()
|
|
504 self._subjects = self._fam._subjects
|
|
505 self._ordered_subjects = self._fam._ordered_subjects
|
|
506
|
|
507 self._bed.parse(self._ordered_subjects, self._ordered_markers, quick=quick)
|
|
508 self._bedf = self._bed._fh
|
|
509 self._genotypes = self._bed._genotypes
|
|
510 self.nsubjects = len(self._ordered_subjects)
|
|
511 self.nmarkers = len(self._ordered_markers)
|
|
512 self._bytes_per_marker = nbytes(self.nsubjects)
|
|
513
|
|
514 def writeped(self, path=None):
|
|
515 """
|
|
516 """
|
|
517 path = self.path = path or self.path
|
|
518
|
|
519 map_name = self.path.replace('.bed', '.map')
|
|
520 print 'Writing map file [ %s ]' % (map_name)
|
|
521 dst = open(map_name, 'w')
|
|
522 for m in self._ordered_markers:
|
|
523 chrom, snp, genpos, abspos, a1, a2 = self._markers[m]
|
|
524 dst.write('%s\t%s\t%s\t%s\n' % (chrom, snp, genpos, abspos))
|
|
525 dst.close()
|
|
526
|
|
527 ped_name = self.path.replace('.bed', '.ped')
|
|
528 print 'Writing ped file [ %s ]' % (ped_name)
|
|
529 ped = open(ped_name, 'w')
|
|
530 firstyikes = False
|
|
531 for s, skey in enumerate(self._ordered_subjects):
|
|
532 idx = s*2
|
|
533 (fid, iid, did, mid, sex, phe, oiid, odid, omid) = self._subjects[skey]
|
|
534 ped.write('%s %s %s %s %s %s' % (fid, iid, odid, omid, sex, phe))
|
|
535 genotypes_for_subject = self.getGenotypesForSubject(s)
|
|
536 for m, snp in enumerate(self._ordered_markers):
|
|
537 #a1, a2 = self.getGenotypeByIndices(s, m)
|
|
538 a1,a2 = genotypes_for_subject[m]
|
|
539 ped.write(' %s %s' % (a1, a2))
|
|
540 ped.write('\n')
|
|
541 ped.close()
|
|
542
|
|
543 def getGenotype(self, subject, marker):
|
|
544 """ Retrieve a genotype for a particular subject/marker pair
|
|
545 """
|
|
546 m = self._ordered_markers.index(marker)
|
|
547 s = self._ordered_subjects.index(subject)
|
|
548 return self.getGenotypeByIndices(s, m)
|
|
549
|
|
550 def getGenotypesForSubject(self, s, raw=False):
|
|
551 """ Returns list of genotypes for all m markers
|
|
552 for subject s. If raw==True, then an array
|
|
553 of raw integer gcodes is returned instead
|
|
554 """
|
|
555 if self._quick:
|
|
556 nmarkers = len(self._markers)
|
|
557 raw_array = array('i', [0]*nmarkers)
|
|
558 seek_nibble = s % 4
|
|
559 for m in xrange(nmarkers):
|
|
560 seek_byte = m * self._bytes_per_marker + s/4 + HEADER_LENGTH
|
|
561 self._bedf.seek(seek_byte)
|
|
562 geno = struct.unpack('B', self._bedf.read(1))[0]
|
|
563 quartet = INT_TO_GCODE[geno]
|
|
564 gcode = quartet[seek_nibble]
|
|
565 raw_array[m] = gcode
|
|
566 else:
|
|
567 raw_array = array('i', [row[s] for row in self._genotypes])
|
|
568
|
|
569 if raw:
|
|
570 return raw_array
|
|
571 else:
|
|
572 result = []
|
|
573 for m, gcode in enumerate(raw_array):
|
|
574 result.append(self._marker_allele_lookup[m][gcode])
|
|
575 return result
|
|
576
|
|
577 def getGenotypeByIndices(self, s, m):
|
|
578 """
|
|
579 """
|
|
580 if self._quick:
|
|
581 # Determine which byte we need to seek to, and
|
|
582 # which nibble within the byte we need
|
|
583 seek_byte = m * self._bytes_per_marker + s/4 + HEADER_LENGTH
|
|
584 seek_nibble = s % 4
|
|
585 self._bedf.seek(seek_byte)
|
|
586 geno = struct.unpack('B', self._bedf.read(1))[0]
|
|
587 quartet = INT_TO_GCODE[geno]
|
|
588 gcode = quartet[seek_nibble]
|
|
589 else:
|
|
590 # Otherwise, just grab the genotypes from the
|
|
591 # list of arrays
|
|
592 genos_for_marker = self._genotypes[m]
|
|
593 gcode = genos_for_marker[s]
|
|
594
|
|
595 return self._marker_allele_lookup[m][gcode]
|
|
596
|
|
597 def getGenotypesByIndices(self, s, mlist, format):
|
|
598 """
|
|
599 """
|
|
600 if self._quick:
|
|
601 raw_array = array('i', [0]*len(mlist))
|
|
602 seek_nibble = s % 4
|
|
603 for i,m in enumerate(mlist):
|
|
604 seek_byte = m * self._bytes_per_marker + s/4 + HEADER_LENGTH
|
|
605 self._bedf.seek(seek_byte)
|
|
606 geno = struct.unpack('B', self._bedf.read(1))[0]
|
|
607 quartet = INT_TO_GCODE[geno]
|
|
608 gcode = quartet[seek_nibble]
|
|
609 raw_array[i] = gcode
|
|
610 mlist = set(mlist)
|
|
611 else:
|
|
612 mlist = set(mlist)
|
|
613 raw_array = array('i', [row[s] for m,row in enumerate(self._genotypes) if m in mlist])
|
|
614
|
|
615 if format == 'raw':
|
|
616 return raw_array
|
|
617 elif format == 'ref':
|
|
618 result = array('i', [0]*len(mlist))
|
|
619 for m, gcode in enumerate(raw_array):
|
|
620 if gcode == HOM0:
|
|
621 nref = 3
|
|
622 elif gcode == HET:
|
|
623 nref = 2
|
|
624 elif gcode == HOM1:
|
|
625 nref = 1
|
|
626 else:
|
|
627 nref = 0
|
|
628 result[m] = nref
|
|
629 return result
|
|
630 else:
|
|
631 result = []
|
|
632 for m, gcode in enumerate(raw_array):
|
|
633 result.append(self._marker_allele_lookup[m][gcode])
|
|
634 return result
|
|
635
|
|
636 def getSubject(self, s):
|
|
637 """
|
|
638 """
|
|
639 skey = self._ordered_subjects[s]
|
|
640 return self._subjects[skey]
|
|
641
|
|
642 def autosomal_indices(self):
|
|
643 """ Return the indices of markers in this ped/map that are autosomal.
|
|
644 This is used by rgGRR so that it can select a random set of markers
|
|
645 from the autosomes (sex chroms screw up the plot)
|
|
646 """
|
|
647 return self._autosomal_indices
|
|
648
|
|
649 class Bed:
|
|
650
|
|
651 def __init__(self, path):
|
|
652 self.path = path
|
|
653 self._genotypes = []
|
|
654 self._fh = None
|
|
655
|
|
656 def parse(self, subjects, markers, quick=False):
|
|
657 """ Parse the bed file, indicated either by the path parameter,
|
|
658 or as the self.path indicated in __init__. If quick is
|
|
659 True, then just parse the bim and fam, then genotypes will
|
|
660 be looked up dynamically by indices
|
|
661 """
|
|
662 self._quick = quick
|
|
663
|
|
664 ordered_markers = markers
|
|
665 ordered_subjects = subjects
|
|
666 nsubjects = len(ordered_subjects)
|
|
667 nmarkers = len(ordered_markers)
|
|
668
|
|
669 bed = open(self.path, 'rb')
|
|
670 self._fh = bed
|
|
671
|
|
672 byte1 = bed.read(1)
|
|
673 byte2 = bed.read(1)
|
|
674 byte3 = bed.read(1)
|
|
675 format_flag = struct.unpack('B', byte3)[0]
|
|
676
|
|
677 h1 = tuple(INT_TO_GCODE[struct.unpack('B', byte1)[0]])
|
|
678 h2 = tuple(INT_TO_GCODE[struct.unpack('B', byte2)[0]])
|
|
679 h3 = tuple(INT_TO_GCODE[format_flag])
|
|
680
|
|
681 if h1 != MAGIC1 or h2 != MAGIC2:
|
|
682 raise BadMagic('One or both MAGIC bytes is wrong: %s==%s or %s==%s' % (h1, MAGIC1, h2, MAGIC2))
|
|
683 if format_flag:
|
|
684 print 'Detected that binary PED file is v1.00 SNP-major mode (%s, "%s")\n' % (format_flag, h3)
|
|
685 else:
|
|
686 raise 'BAD_FORMAT_FLAG? (%s, "%s")\n' % (format_flag, h3)
|
|
687
|
|
688 print 'Parsing binary ped file for %s markers and %s subjects' % (nmarkers, nsubjects)
|
|
689
|
|
690 ### If quick mode was specified, we're done ...
|
|
691 self._quick = quick
|
|
692 if quick:
|
|
693 return
|
|
694
|
|
695 ### ... Otherwise, parse genotypes into an array, and append that
|
|
696 ### array to self._genotypes
|
|
697 ngcodes = ceiling(nsubjects, 4)
|
|
698 bytes_per_marker = nbytes(nsubjects)
|
|
699 for m in xrange(nmarkers):
|
|
700 genotype_array = array('i', [-1]*(ngcodes))
|
|
701 for byte in xrange(bytes_per_marker):
|
|
702 intval = struct.unpack('B', bed.read(1))[0]
|
|
703 idx = byte*4
|
|
704 genotype_array[idx:idx+4] = INT_TO_GCODE[intval]
|
|
705 self._genotypes.append(genotype_array)
|
|
706
|
|
707 class Bim:
|
|
708 def __init__(self, path):
|
|
709 """
|
|
710 """
|
|
711 self.path = path
|
|
712 self._markers = {}
|
|
713 self._ordered_markers = []
|
|
714 self._marker_allele_lookup = {}
|
|
715 self._autosomal_indices = set()
|
|
716
|
|
717 def parse(self):
|
|
718 """
|
|
719 """
|
|
720 print 'Reading map (extended format) from [ %s ]' % (self.path)
|
|
721 bim = open(self.path, 'r')
|
|
722 for m, line in enumerate(bim):
|
|
723 chrom, snp, gpos, apos, a1, a2 = line.strip().split()
|
|
724 self._markers[snp] = (chrom, snp, gpos, apos, a1, a2)
|
|
725 self._marker_allele_lookup[m] = {
|
|
726 HOM0: (a2, a2),
|
|
727 HOM1: (a1, a1),
|
|
728 HET : (a1, a2),
|
|
729 MISS: ('0','0'),
|
|
730 }
|
|
731 self._ordered_markers.append(snp)
|
|
732 if chrom in AUTOSOMES:
|
|
733 self._autosomal_indices.add(m)
|
|
734 bim.close()
|
|
735 print '%s markers to be included from [ %s ]' % (m+1, self.path)
|
|
736
|
|
737 class Fam:
|
|
738 def __init__(self, path):
|
|
739 """
|
|
740 """
|
|
741 self.path = path
|
|
742 self._subjects = {}
|
|
743 self._ordered_subjects = []
|
|
744
|
|
745 def parse(self):
|
|
746 """
|
|
747 """
|
|
748 print 'Reading pedigree information from [ %s ]' % (self.path)
|
|
749 fam = open(self.path, 'r')
|
|
750 for s, line in enumerate(fam):
|
|
751 fid, iid, did, mid, sex, phe = line.strip().split()
|
|
752 sid = iid.split('.')[0]
|
|
753 d_sid = did.split('.')[0]
|
|
754 m_sid = mid.split('.')[0]
|
|
755 skey = (fid, iid)
|
|
756 self._ordered_subjects.append(skey)
|
|
757 self._subjects[skey] = (fid, iid, did, mid, sex, phe, sid, d_sid, m_sid)
|
|
758 fam.close()
|
|
759 print '%s individuals read from [ %s ]' % (s+1, self.path)
|
|
760
|
|
761 ### Command-line functionality and testing
|
|
762 def test(arg):
|
|
763 '''
|
|
764 '''
|
|
765
|
|
766 import time
|
|
767
|
|
768 if arg == 'CAMP_AFFY.ped':
|
|
769 print 'Testing bed.parse(quick=True)'
|
|
770 s = time.time()
|
|
771 bed = Bed(arg.replace('.ped', '.bed'))
|
|
772 bed.parse(quick=True)
|
|
773 print bed.getGenotype(('400118', '10300283'), 'rs2000467')
|
|
774 print bed.getGenotype(('400118', '10101384'), 'rs2294019')
|
|
775 print bed.getGenotype(('400121', '10101149'), 'rs2294019')
|
|
776 print bed.getGenotype(('400123', '10200290'), 'rs2294019')
|
|
777 assert bed.getGenotype(('400118', '10101384'), 'rs2294019') == ('4','4')
|
|
778 e = time.time()
|
|
779 print 'e-s = %s\n' % (e-s)
|
|
780
|
|
781 print 'Testing bed.parse'
|
|
782 s = time.time()
|
|
783 bed = BPed(arg)
|
|
784 bed.parse(quick=False)
|
|
785 e = time.time()
|
|
786 print 'e-s = %s\n' % (e-s)
|
|
787
|
|
788 print 'Testing bed.writeped'
|
|
789 s = time.time()
|
|
790 outname = '%s_BEDTEST' % (arg)
|
|
791 bed.writeped(outname)
|
|
792 e = time.time()
|
|
793 print 'e-s = %s\n' % (e-s)
|
|
794 del(bed)
|
|
795
|
|
796 print 'Testing ped.parse'
|
|
797 s = time.time()
|
|
798 ped = LPed(arg)
|
|
799 ped.parse()
|
|
800 e = time.time()
|
|
801 print 'e-s = %s\n' % (e-s)
|
|
802
|
|
803 print 'Testing ped.writebed'
|
|
804 s = time.time()
|
|
805 outname = '%s_PEDTEST' % (arg)
|
|
806 ped.writebed(outname)
|
|
807 e = time.time()
|
|
808 print 'e-s = %s\n' % (e-s)
|
|
809 del(ped)
|
|
810
|
|
811 def profile_bed(arg):
|
|
812 """
|
|
813 """
|
|
814 bed = BPed(arg)
|
|
815 bed.parse(quick=False)
|
|
816 outname = '%s_BEDPROFILE' % (arg)
|
|
817 bed.writeped(outname)
|
|
818
|
|
819 def profile_ped(arg):
|
|
820 """
|
|
821 """
|
|
822 ped = LPed(arg)
|
|
823 ped.parse()
|
|
824 outname = '%s_PEDPROFILE' % (arg)
|
|
825 ped.writebed(outname)
|
|
826
|
|
827 if __name__ == '__main__':
|
|
828 """ Run as a command-line, this script should get one or more arguments,
|
|
829 each one a ped file to be parsed with the PedParser (unit tests?)
|
|
830 """
|
|
831 op = optparse.OptionParser()
|
|
832 op.add_option('--profile-bed', action='store_true', default=False)
|
|
833 op.add_option('--profile-ped', action='store_true', default=False)
|
|
834 opts, args = op.parse_args()
|
|
835
|
|
836 if opts.profile_bed:
|
|
837 import profile
|
|
838 import pstats
|
|
839 profile.run('profile_bed(args[0])', 'fooprof')
|
|
840 p = pstats.Stats('fooprof')
|
|
841 p.sort_stats('cumulative').print_stats(10)
|
|
842 elif opts.profile_ped:
|
|
843 import profile
|
|
844 import pstats
|
|
845 profile.run('profile_ped(args[0])', 'fooprof')
|
|
846 p = pstats.Stats('fooprof')
|
|
847 p.sort_stats('cumulative').print_stats(10)
|
|
848 else:
|
|
849 for arg in args:
|
|
850 test(arg)
|
|
851
|
|
852 ### Code used to generate the INT_TO_GCODE dictionary
|
|
853 #print '{\n ',
|
|
854 #for i in range(256):
|
|
855 # b = INT2BIN[i]
|
|
856 # ints = []
|
|
857 # s = str(i).rjust(3)
|
|
858 # #print b
|
|
859 # for j in range(4):
|
|
860 # idx = j*2
|
|
861 # #print i, j, idx, b[idx:idx+2], int(b[idx:idx+2], 2)
|
|
862 # ints.append(int(b[idx:idx+2], 2))
|
|
863 # print '%s: array(\'i\', %s),' % (s,tuple(ints)),
|
|
864 # if i > 0 and (i+1) % 4 == 0:
|
|
865 # print '\n ',
|
|
866 #print '}'
|
|
867
|
|
868
|