gnomad.variant_qc.ld

gnomad.variant_qc.ld.get_r_human_readable(...)

gnomad.variant_qc.ld.get_r_for_pair_of_variants(bm, ...)

Get r value (LD) for pair of variants var1 and var2.

gnomad.variant_qc.ld.get_r_within_gene_in_pop(...)

Get LD information (r) for all pairs of variants within gene for a given pop.

gnomad.variant_qc.ld.get_r_within_gene(bm, ...)

Get LD information (r) for all pairs of variants within gene.

gnomad.variant_qc.ld.get_r_human_readable(pop, var1, var2, ref_genome='GRCh37')[source]
Parameters:
  • pop (str) –

  • var1 (str) –

  • var2 (str) –

  • ref_genome (str) –

gnomad.variant_qc.ld.get_r_for_pair_of_variants(bm, ld_index, var1, var2)[source]

Get r value (LD) for pair of variants var1 and var2.

bm = get_ld_matrix('nfe')
ld_index = get_ld_index('nfe')
var1 = (hl.parse_locus('1:10146', 'GRCh37'), ['AC', 'A'])
var2 = (hl.parse_locus('1:10151', 'GRCh37'), ['TA', 'T'])
get_r_for_pair_of_variants(bm, ld_index, var1, var2)
# 0.01789767935482124
Parameters:
Returns:

Correlation (r) between two variants

gnomad.variant_qc.ld.get_r_within_gene_in_pop(pop, gene)[source]

Get LD information (r) for all pairs of variants within gene for a given pop.

Warning: this returns a table quadratic in number of variants. Exercise caution with large genes.

Parameters:
  • pop (str) – Population for which to get LD information

  • gene (str) – Gene symbol as string

Returns:

Table with pairs of variants

gnomad.variant_qc.ld.get_r_within_gene(bm, ld_index, gene, vep_ht=None, reference_genome=None)[source]

Get LD information (r) for all pairs of variants within gene.

Warning: this returns a table quadratic in number of variants. Exercise caution with large genes.

Parameters:
  • bm (BlockMatrix) – Input Block Matrix

  • ld_index (Table) – Corresponding index table

  • gene (str) – Gene symbol as string

  • vep_ht (Table) – Table with VEP annotations (if None, gets from get_gnomad_public_data())

  • reference_genome (str) – Reference genome to pass to get_gene_intervals for fast filtering to gene

Returns:

Table with pairs of variants