gnomad_qc.v5.resources.meta

Script containing metadata related resources.

Module Functions

gnomad_qc.v5.resources.meta.get_project_meta([...])

Get the VersionedTableResource for per-sample project-level metadata.

gnomad_qc.v5.resources.meta.get_sample_id_collisions([...])

Get the TableResource for sample IDs that collide between AoU and gnomAD v4.

gnomad_qc.v5.resources.meta.get_low_quality_samples([...])

Get the ExpressionResource for AoU-flagged low-quality sample IDs.

gnomad_qc.v5.resources.meta.get_failing_metrics_samples([...])

Get the ExpressionResource for samples failing AoU genomic QC metrics.

gnomad_qc.v5.resources.meta.get_samples_to_exclude_resource([...])

Get the ExpressionResource for the combined set of samples to exclude.

gnomad_qc.v5.resources.meta.get_consent_samples_to_drop([...])

Get the TableResource for consent-withdrawn samples.

gnomad_qc.v5.resources.meta.meta([version, ...])

Get the v5 sample QC meta VersionedTableResource.

Script containing metadata related resources.

gnomad_qc.v5.resources.meta.get_project_meta(environment='rwb')[source]

Get the VersionedTableResource for per-sample project-level metadata.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

VersionedTableResource

Returns:

VersionedTableResource for project metadata.

gnomad_qc.v5.resources.meta.get_sample_id_collisions(environment='rwb')[source]

Get the TableResource for sample IDs that collide between AoU and gnomAD v4.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

TableResource

Returns:

TableResource of sample ID collisions.

gnomad_qc.v5.resources.meta.get_low_quality_samples(environment='rwb')[source]

Get the ExpressionResource for AoU-flagged low-quality sample IDs.

SetExpression containing IDs of 3 samples with an unspecified data quality issue.

For more information, see Known Issue #1 in the AoU QC document: https://support.researchallofus.org/hc/en-us/articles/29390274413716-All-of-Us-Genomic-Quality-Report.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

ExpressionResource

Returns:

ExpressionResource of low-quality sample IDs.

gnomad_qc.v5.resources.meta.get_failing_metrics_samples(environment='rwb')[source]

Get the ExpressionResource for samples failing AoU genomic QC metrics.

SetExpression containing IDs of 4030 samples failing coverage hard filters and 1490 samples with non-XX/XY sex ploidies.

For more information about samples failing coverage hard filters, see docstring of get_aou_failing_genomic_metrics_samples.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

ExpressionResource

Returns:

ExpressionResource of failing-metrics sample IDs.

gnomad_qc.v5.resources.meta.get_samples_to_exclude_resource(environment='rwb')[source]

Get the ExpressionResource for the combined set of samples to exclude.

SetExpression containing IDs of 5514 samples to exclude from v5 analysis.

Contains samples that should not have been included in the AoU v8 release (3 samples with unspecified quality issues and 4030 samples failing coverage hard filters) and 1490 samples with non-XX/XY sex ploidies.

The total number of samples to exclude is 5514, not 5523 because 9 samples both fail coverage filters and have non-XX/XY sex ploidies.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

ExpressionResource

Returns:

ExpressionResource of sample IDs to exclude.

Get the TableResource for consent-withdrawn samples.

Table containing IDs of 897 samples that are no longer consented to be in gnomAD.

Samples are from the following projects: - RP-1061: 776 samples. - RP-1411: 121 samples.

Parameters:

environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

TableResource

Returns:

TableResource of consent-withdrawn sample IDs.

gnomad_qc.v5.resources.meta.meta(version='5.0', data_type='genomes', environment='rwb')[source]

Get the v5 sample QC meta VersionedTableResource.

Note

Exome data is not currently supported in this function. The v4 sample QC meta uses a different structure, so this function does not pull or duplicate that data. If exome data are needed, please use the v4 resource directly.

Parameters:
  • version (str) – Sample QC version.

  • data_type (str) – Data type. Default is “genomes”. If “exomes” is supplied, a warning will be raised suggesting the use of v4 sample QC metadata.

  • environment (str) – Environment to use. Default is “rwb”. Must be one of “rwb” or “batch”.

Return type:

VersionedTableResource

Returns:

Sample QC meta VersionedTableResource.