|
| 1 | +import json |
| 2 | +import os |
| 3 | +import subprocess |
| 4 | + |
| 5 | +import hail as hl |
| 6 | + |
| 7 | +from v03_pipeline.lib.misc.lookup import join_lookup_hts |
| 8 | +from v03_pipeline.lib.model import DatasetType, Env, ReferenceGenome |
| 9 | +from v03_pipeline.lib.model.constants import PROJECTS_EXCLUDED_FROM_LOOKUP |
| 10 | + |
| 11 | +# Need to use the GCP bucket as temp storage for very large callset joins |
| 12 | +hl.init(tmp_dir='gs://seqr-scratch-temp', idempotent=True) |
| 13 | + |
| 14 | +# Interval ref data join causes shuffle death, this prevents it |
| 15 | +hl._set_flags(use_new_shuffle='1', no_whole_stage_codegen='1') # noqa: SLF001 |
| 16 | +sc = hl.spark_context() |
| 17 | +sc.addPyFile('gs://seqr-luigi/releases/dev/latest/pyscripts.zip') |
| 18 | + |
| 19 | +Env.HAIL_TMPDIR = 'gs://seqr-scratch-temp' |
| 20 | + |
| 21 | +MIGRATIONS = [ |
| 22 | + ( |
| 23 | + DatasetType.MITO, |
| 24 | + ReferenceGenome.GRCh38, |
| 25 | + ), |
| 26 | + #( |
| 27 | + # DatasetType.SNV_INDEL, |
| 28 | + # ReferenceGenome.GRCh37, |
| 29 | + #), |
| 30 | + #( |
| 31 | + # DatasetType.SNV_INDEL, |
| 32 | + # ReferenceGenome.GRCh38, |
| 33 | + #), |
| 34 | +] |
| 35 | + |
| 36 | +def build_sample_id_to_family_guid(): |
| 37 | + sample_id_to_family_guid = {} |
| 38 | + for dataset_type, reference_genome in MIGRATIONS: |
| 39 | + projects = [] |
| 40 | + path = f'gs://seqr-hail-search-data/v03/{reference_genome.value}/{dataset_type.value}/projects/' |
| 41 | + r = subprocess.run( |
| 42 | + ['gsutil', 'ls', path], |
| 43 | + capture_output=True, |
| 44 | + text=True, |
| 45 | + check=True, |
| 46 | + ) |
| 47 | + if 'matched no objects' in r.stderr: |
| 48 | + continue |
| 49 | + for line in r.stdout.strip().split('\n'): |
| 50 | + if line.endswith('projects/'): |
| 51 | + continue |
| 52 | + projects.append(line) |
| 53 | + for project_table_path in projects: |
| 54 | + print(project_table_path) |
| 55 | + ht = hl.read_table(project_table_path) |
| 56 | + project_guid = project_table_path.replace('.ht/', '').split('/')[-1] |
| 57 | + if project_guid in sample_id_to_family_guid: |
| 58 | + sample_id_to_family_guid[project_guid] = { |
| 59 | + **{sample_id: family_guid for family_guid, samples in hl.eval(ht.globals.family_samples).items() for sample_id in samples}, |
| 60 | + **sample_id_to_family_guid[project_guid] |
| 61 | + } |
| 62 | + else: |
| 63 | + sample_id_to_family_guid = { |
| 64 | + project_guid: {sample_id: family_guid for family_guid, samples in hl.eval(ht.globals.family_samples).items() for sample_id in samples}, |
| 65 | + **sample_id_to_family_guid |
| 66 | + } |
| 67 | + with open('sample_id_to_family_guid.json', 'w') as f: |
| 68 | + json.dump(sample_id_to_family_guid, f, ensure_ascii=False, indent=4) |
| 69 | + |
| 70 | + return sample_id_to_family_guid |
| 71 | + |
| 72 | +def initialize_table(dataset_type: DatasetType, reference_genome: ReferenceGenome) -> hl.Table: |
| 73 | + key_type = dataset_type.table_key_type(reference_genome) |
| 74 | + return hl.Table.parallelize( |
| 75 | + [], |
| 76 | + hl.tstruct( |
| 77 | + **key_type, |
| 78 | + project_stats=hl.tarray( |
| 79 | + hl.tarray( |
| 80 | + hl.tstruct( |
| 81 | + **{ |
| 82 | + field: hl.tint32 |
| 83 | + for field in dataset_type.lookup_table_fields_and_genotype_filter_fns |
| 84 | + }, |
| 85 | + ), |
| 86 | + ), |
| 87 | + ), |
| 88 | + ), |
| 89 | + key=key_type.fields, |
| 90 | + globals=hl.Struct( |
| 91 | + project_guids=hl.empty_array(hl.tstr), |
| 92 | + project_families=hl.empty_dict(hl.tstr, hl.tarray(hl.tstr)), |
| 93 | + updates=hl.empty_set(hl.tstruct(callset=hl.tstr, project_guid=hl.tstr)), |
| 94 | + ), |
| 95 | + ) |
| 96 | + |
| 97 | + |
| 98 | +sample_id_to_family_guid = build_sample_id_to_family_guid() |
| 99 | +for dataset_type, reference_genome in MIGRATIONS: |
| 100 | + ht = initialize_table(dataset_type, reference_genome) |
| 101 | + sample_lookup_ht = hl.read_table(f'gs://seqr-hail-search-data/v03/{reference_genome.value}/{dataset_type.value}/lookup.ht') |
| 102 | + for project_guid in sample_lookup_ht.ref_samples[:3]: |
| 103 | + if project_guid in PROJECTS_EXCLUDED_FROM_LOOKUP: |
| 104 | + continue |
| 105 | + if project_guid not in sample_id_to_family_guid: |
| 106 | + print('Skipping', project_guid) |
| 107 | + continue |
| 108 | + print(project_guid) |
| 109 | + if dataset_type == DatasetType.MITO: |
| 110 | + project_lookup_ht = sample_lookup_ht.select( |
| 111 | + ref_samples=hl.array(sample_lookup_ht.ref_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 112 | + heteroplasmic_samples=hl.array(sample_lookup_ht.heteroplasmic_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 113 | + homoplasmic_samples=hl.array(sample_lookup_ht.homoplasmic_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 114 | + family_guids=hl.sorted(list(sample_id_to_family_guid[project_guid].keys())), |
| 115 | + ) |
| 116 | + project_lookup_ht = project_lookup_ht.filter(hl.len(project_lookup_ht.family_guids) > 0) |
| 117 | + project_lookup_ht = project_lookup_ht.select( |
| 118 | + project_stats = project_lookup_ht.family_guids.map( |
| 119 | + lambda family_guid: hl.Struct( |
| 120 | + ref_samples=hl.len(project_lookup_ht.ref_samples.filter(lambda f: f == family_guid)), |
| 121 | + heteroplasmic_samples=hl.len(project_lookup_ht.heteroplasmic_samples.filter(lambda f: f == family_guid)), |
| 122 | + homoplasmic_samples=hl.len(project_lookup_ht.homoplasmic_samples.filter(lambda f: f == family_guid)), |
| 123 | + ), |
| 124 | + ), |
| 125 | + family_guids=project_lookup_ht.family_guids, |
| 126 | + ) |
| 127 | + project_lookup_ht = project_lookup_ht.annotate( |
| 128 | + project_stats = [project_lookup_ht.project_stats.map( |
| 129 | + lambda x: hl.or_missing( |
| 130 | + ((x.ref_samples > 0) | (x.heteroplasmic_samples > 0) | (x.homoplasmic_samples > 0)), |
| 131 | + x |
| 132 | + ), |
| 133 | + )] |
| 134 | + ) |
| 135 | + else: |
| 136 | + project_lookup_ht = sample_lookup_ht.select( |
| 137 | + ref_samples=hl.array(sample_lookup_ht.ref_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 138 | + het_samples=hl.array(sample_lookup_ht.het_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 139 | + hom_samples=hl.array(sample_lookup_ht.hom_samples[project_guid]).map(lambda sample_id: hl.dict(sample_id_to_family_guid[project_guid])[sample_id]), |
| 140 | + family_guids=hl.sorted(list(sample_id_to_family_guid[project_guid].keys())), |
| 141 | + ) |
| 142 | + project_lookup_ht = project_lookup_ht.filter( |
| 143 | + hl.len(project_lookup_ht.family_guids) > 0 |
| 144 | + ) |
| 145 | + project_lookup_ht = project_lookup_ht.select( |
| 146 | + project_stats=project_lookup_ht.family_guids.map( |
| 147 | + lambda family_guid: hl.Struct( |
| 148 | + ref_samples=hl.len(project_lookup_ht.ref_samples.filter(lambda f: f == family_guid)), |
| 149 | + het_samples=hl.len(project_lookup_ht.het_samples.filter(lambda f: f == family_guid)), |
| 150 | + hom_samples=hl.len(project_lookup_ht.hom_samples.filter(lambda f: f == family_guid)), |
| 151 | + ) |
| 152 | + ), |
| 153 | + family_guids=project_lookup_ht.family_guids, |
| 154 | + ) |
| 155 | + project_lookup_ht = project_lookup_ht.annotate( |
| 156 | + project_stats = [project_lookup_ht.project_stats.map( |
| 157 | + lambda x: hl.or_missing( |
| 158 | + ((x.ref_samples > 0) | (x.het_samples > 0) | (x.hom_samples > 0)), |
| 159 | + x |
| 160 | + ), |
| 161 | + )] |
| 162 | + ) |
| 163 | + family_guids = project_lookup_ht.family_guids.take(1) |
| 164 | + project_lookup_ht = project_lookup_ht.select_globals( |
| 165 | + project_guids=[project_guid], |
| 166 | + project_families={project_guid: family_guids[0]}, |
| 167 | + ) |
| 168 | + project_lookup_ht = project_lookup_ht.select('project_stats') |
| 169 | + ht = join_lookup_hts(ht, project_lookup_ht) |
| 170 | + print(ht.count()) |
| 171 | + print(ht.distinct().count()) |
| 172 | + ht = ht.annotate_globals( |
| 173 | + updates=sample_lookup_ht.index_globals().updates |
| 174 | + ) |
| 175 | + ht.write('gs://seqr-scratch-temp/mito_new_lookup.ht') |
| 176 | + |
| 177 | + |
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