gnomad_qc.v5.resources.variant_qc

Script containing variant QC related resources for v5.

Module Functions

gnomad_qc.v5.resources.variant_qc.truth_samples_gvcf_paths

Path to a single-column TSV listing the GCS path to each truth-sample gVCF (one per line).

gnomad_qc.v5.resources.variant_qc.get_truth_samples_combiner_plan([test])

Return the path to the truth-samples VDS combiner plan (combiner save_path).

Script containing variant QC related resources for v5.

gnomad_qc.v5.resources.variant_qc.truth_samples_gvcf_paths = 'gs://fc-11093c2b-590e-424a-91ac-0cc040d562fc/v5.0/variant_qc/genomes/aou/truth_samples/truth_samples_gvcf_paths.tsv'

Path to a single-column TSV listing the GCS path to each truth-sample gVCF (one per line).

The truth samples are 8 Genomes-in-a-Bottle (GiaB) samples sequenced with the same protocol as the AoU v8 data. Their gVCFs are stored here: gs://fc-aou-datasets-controlled/v8/wgs/short_read/snpindel/aux/qc/control_samples/

The sample IDs are intentionally not stored in this repo. The combiner therefore reads the gVCF paths from this manifest by known object paths rather than globbing the bucket.

gnomad_qc.v5.resources.variant_qc.truth_samples_vds = VariantDatasetResource(path=gs://fc-11093c2b-590e-424a-91ac-0cc040d562fc/v5.0/variant_qc/genomes/aou/truth_samples/truth_samples.vds)

VDS containing 8 GiaB samples.

This resource does not need to be remade for future versions.

gnomad_qc.v5.resources.variant_qc.get_truth_samples_combiner_plan(test=False)[source]

Return the path to the truth-samples VDS combiner plan (combiner save_path).

The plan lets a failed or interrupted combiner run be resumed. It is written to the writable batch variant QC tree (or a temp path for tests).

Like truth_samples_vds, this resource does not need to be remade for future versions.

Parameters:

test (bool) – Whether to return a temporary test path. Default is False.

Return type:

str

Returns:

Path to the combiner plan JSON.