gnomad.resources.grch37.reference_data

gnomad.resources.grch37.reference_data.get_truth_ht()

Return a table with annotations from the latest version of the corresponding truth data.

gnomad.resources.grch37.reference_data.transform_grch37_methylation([...])

Transform methylation level from the GRCh37 methylation resource to a 0-2 scale.

gnomad.resources.grch37.reference_data.get_truth_ht()[source]

Return a table with annotations from the latest version of the corresponding truth data.

The following annotations are included:
  • hapmap

  • kgp_omni (1000 Genomes intersection Onni 2.5M array)

  • kgp_phase_1_hc (high confidence sites in 1000 genonmes)

  • mills (Mills & Devine indels)

Return type:

Table

Returns:

A table with the latest version of popular truth data annotations

gnomad.resources.grch37.reference_data.transform_grch37_methylation(ht=None, methylation_expr=None)[source]

Transform methylation level from the GRCh37 methylation resource to a 0-2 scale.

Note

One of ht or methylation_expr must be provided.

The GRCh37 methylation resource provides a MEAN score ranging from 0 to 1. We transform this to a 0-2 scale by converting any value greater than 0.6 to 2, any value less than or equal to 0.2 to 0, and any value in between to 1.

Parameters:
  • ht (Optional[Table]) – Optional Hail Table with methylation data. Default is None.

  • methylation_expr (Optional[NumericExpression]) – Optional methylation level expression. Default is None.

Return type:

Union[Table, NumericExpression]

Returns:

Transformed methylation level expression or annotated Hail Table.