|
| 1 | +import unittest |
| 2 | + |
| 3 | +import hail as hl |
| 4 | + |
| 5 | +from v03_pipeline.lib.misc.sample_ids import ( |
| 6 | + MatrixTableSampleSetError, |
| 7 | + remap_sample_ids, |
| 8 | + subset_samples, |
| 9 | +) |
| 10 | + |
| 11 | +CALLSET_MT = hl.MatrixTable.from_parts( |
| 12 | + rows={'variants': [1, 2]}, |
| 13 | + cols={'s': ['HG00731', 'HG00732', 'HG00733']}, |
| 14 | + entries={ |
| 15 | + 'HL': [ |
| 16 | + [0.0, hl.missing(hl.tfloat), 0.3], |
| 17 | + [0.1, 0.2, 0.3], |
| 18 | + ], |
| 19 | + }, |
| 20 | +).key_cols_by('s') |
| 21 | + |
| 22 | + |
| 23 | +class SampleLookupTest(unittest.TestCase): |
| 24 | + def test_remap_2_sample_ids(self) -> None: |
| 25 | + # remap 2 of 3 samples in callset |
| 26 | + project_remap_ht = hl.Table.parallelize( |
| 27 | + [ |
| 28 | + {'s': 'HG00731', 'seqr_id': 'HG00731_1'}, |
| 29 | + {'s': 'HG00732', 'seqr_id': 'HG00732_1'}, |
| 30 | + ], |
| 31 | + hl.tstruct( |
| 32 | + s=hl.tstr, |
| 33 | + seqr_id=hl.tstr, |
| 34 | + ), |
| 35 | + key='s', |
| 36 | + ) |
| 37 | + |
| 38 | + remapped_mt = remap_sample_ids( |
| 39 | + CALLSET_MT, |
| 40 | + project_remap_ht, |
| 41 | + ignore_missing_samples_when_remapping=True, |
| 42 | + ) |
| 43 | + |
| 44 | + self.assertEqual(remapped_mt.cols().count(), 3) |
| 45 | + self.assertEqual( |
| 46 | + remapped_mt.cols().collect(), |
| 47 | + [ |
| 48 | + hl.Struct( |
| 49 | + col_idx=0, |
| 50 | + s='HG00731_1', |
| 51 | + seqr_id='HG00731_1', |
| 52 | + vcf_id='HG00731', |
| 53 | + ), |
| 54 | + hl.Struct( |
| 55 | + col_idx=1, |
| 56 | + s='HG00732_1', |
| 57 | + seqr_id='HG00732_1', |
| 58 | + vcf_id='HG00732', |
| 59 | + ), |
| 60 | + hl.Struct(col_idx=2, s='HG00733', seqr_id='HG00733', vcf_id='HG00733'), |
| 61 | + ], |
| 62 | + ) |
| 63 | + |
| 64 | + def test_remap_sample_ids_remap_has_duplicate(self) -> None: |
| 65 | + # remap file has 2 rows for HG00732 |
| 66 | + project_remap_ht = hl.Table.parallelize( |
| 67 | + [ |
| 68 | + {'s': 'HG00731', 'seqr_id': 'HG00731_1'}, |
| 69 | + {'s': 'HG00732', 'seqr_id': 'HG00732_1'}, |
| 70 | + {'s': 'HG00732', 'seqr_id': 'HG00732_1'}, # duplicate |
| 71 | + ], |
| 72 | + hl.tstruct( |
| 73 | + s=hl.tstr, |
| 74 | + seqr_id=hl.tstr, |
| 75 | + ), |
| 76 | + key='s', |
| 77 | + ) |
| 78 | + |
| 79 | + with self.assertRaises(ValueError): |
| 80 | + remap_sample_ids( |
| 81 | + CALLSET_MT, |
| 82 | + project_remap_ht, |
| 83 | + ignore_missing_samples_when_remapping=True, |
| 84 | + ) |
| 85 | + |
| 86 | + def test_remap_sample_ids_remap_has_missing_samples(self) -> None: |
| 87 | + # remap file has 4 rows, but only 3 samples in callset |
| 88 | + project_remap_ht = hl.Table.parallelize( |
| 89 | + [ |
| 90 | + {'s': 'HG00731', 'seqr_id': 'HG00731_1'}, |
| 91 | + {'s': 'HG00732', 'seqr_id': 'HG00732_1'}, |
| 92 | + {'s': 'HG00733', 'seqr_id': 'HG00733_1'}, |
| 93 | + {'s': 'HG00734', 'seqr_id': 'HG00734_1'}, # missing in callset |
| 94 | + ], |
| 95 | + hl.tstruct( |
| 96 | + s=hl.tstr, |
| 97 | + seqr_id=hl.tstr, |
| 98 | + ), |
| 99 | + key='s', |
| 100 | + ) |
| 101 | + |
| 102 | + with self.assertRaises(MatrixTableSampleSetError): |
| 103 | + remap_sample_ids( |
| 104 | + CALLSET_MT, |
| 105 | + project_remap_ht, |
| 106 | + ignore_missing_samples_when_remapping=False, |
| 107 | + ) |
| 108 | + |
| 109 | + def test_subset_samples(self): |
| 110 | + # subset 2 of 3 samples in callset |
| 111 | + sample_subset_ht = hl.Table.parallelize( |
| 112 | + [ |
| 113 | + {'s': 'HG00731'}, |
| 114 | + {'s': 'HG00732'}, |
| 115 | + ], |
| 116 | + hl.tstruct(s=hl.tstr), |
| 117 | + key='s', |
| 118 | + ) |
| 119 | + |
| 120 | + subset_mt = subset_samples( |
| 121 | + CALLSET_MT, |
| 122 | + sample_subset_ht, |
| 123 | + ignore_missing_samples_when_subsetting=True, |
| 124 | + ) |
| 125 | + |
| 126 | + self.assertEqual(subset_mt.cols().count(), 2) |
| 127 | + self.assertEqual( |
| 128 | + subset_mt.cols().collect(), |
| 129 | + [ |
| 130 | + hl.Struct(col_idx=0, s='HG00731'), |
| 131 | + hl.Struct(col_idx=1, s='HG00732'), |
| 132 | + ], |
| 133 | + ) |
| 134 | + |
| 135 | + def test_subset_samples_zero_samples(self): |
| 136 | + # subset 0 of 3 samples in callset |
| 137 | + sample_subset_ht = hl.Table.parallelize( |
| 138 | + [], |
| 139 | + hl.tstruct(s=hl.tstr), |
| 140 | + key='s', |
| 141 | + ) |
| 142 | + |
| 143 | + with self.assertRaises(MatrixTableSampleSetError): |
| 144 | + subset_samples( |
| 145 | + CALLSET_MT, |
| 146 | + sample_subset_ht, |
| 147 | + ignore_missing_samples_when_subsetting=True, |
| 148 | + ) |
| 149 | + |
| 150 | + def test_subset_samples_missing_samples(self): |
| 151 | + # subset 2 of 3 samples in callset, but 1 is missing |
| 152 | + sample_subset_ht = hl.Table.parallelize( |
| 153 | + [ |
| 154 | + {'s': 'HG00731'}, |
| 155 | + {'s': 'HG00732'}, |
| 156 | + {'s': 'HG00734'}, # missing in callset |
| 157 | + ], |
| 158 | + hl.tstruct(s=hl.tstr), |
| 159 | + key='s', |
| 160 | + ) |
| 161 | + |
| 162 | + with self.assertRaises(MatrixTableSampleSetError): |
| 163 | + subset_samples( |
| 164 | + CALLSET_MT, |
| 165 | + sample_subset_ht, |
| 166 | + ignore_missing_samples_when_subsetting=False, |
| 167 | + ) |
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