gnomad.utils
- annotations
annotate_with_ht()
pop_max_expr()
project_max_expr()
faf_expr()
gen_anc_faf_max_expr()
qual_hist_expr()
age_hists_expr()
get_lowqual_expr()
get_annotations_hists()
create_frequency_bins_expr()
annotate_and_index_source_mt_for_sex_ploidy()
get_is_haploid_expr()
get_gq_dp_adj_expr()
get_het_ab_adj_expr()
get_adj_expr()
annotate_adj()
add_variant_type()
annotate_allele_info()
annotation_type_is_numeric()
annotation_type_in_vcf_info()
bi_allelic_site_inbreeding_expr()
fs_from_sb()
sor_from_sb()
pab_max_expr()
bi_allelic_expr()
unphase_call_expr()
region_flag_expr()
missing_callstats_expr()
set_female_y_metrics_to_na_expr()
hemi_expr()
merge_freq_arrays()
merge_histograms()
annotate_freq()
annotate_downsamplings()
build_freq_stratification_list()
generate_freq_group_membership_array()
compute_freq_by_strata()
agg_by_strata()
update_structured_annotations()
fill_missing_key_combinations()
missing_struct_expr()
add_gks_vrs()
add_gks_va()
- constraint
COVERAGE_CUTOFF
annotate_with_mu()
count_variants_by_group()
get_downsampling_freq_indices()
downsampling_counts_expr()
explode_downsamplings_oe()
annotate_mutation_type()
trimer_from_heptamer()
collapse_strand()
build_models()
build_plateau_models()
build_coverage_model()
get_all_pop_lengths()
get_constraint_grouping_expr()
annotate_exploded_vep_for_constraint_groupings()
compute_expected_variants()
oe_aggregation_expr()
compute_pli()
oe_confidence_interval()
calculate_raw_z_score()
get_constraint_flags()
calculate_raw_z_score_sd()
add_gencode_transcript_annotations()
- file_utils
- filtering
filter_to_adj()
filter_by_frequency()
combine_functions()
low_conf_regions_expr()
filter_low_conf_regions()
filter_to_autosomes()
add_filters_expr()
subset_samples_and_variants()
filter_to_clinvar_pathogenic()
filter_to_gencode_cds()
remove_fields_from_constant()
filter_x_nonpar()
filter_y_nonpar()
filter_by_numeric_expr_range()
filter_for_mu()
split_vds_by_strata()
filter_arrays_by_meta()
- gen_stats
- intervals
- liftover
- plotting
- reference_genome
- release
- slack
- sparse_mt
compute_last_ref_block_end()
densify_sites()
get_as_info_expr()
get_site_info_expr()
default_compute_info()
split_info_annotation()
split_lowqual_annotation()
impute_sex_ploidy()
densify_all_reference_sites()
compute_stats_per_ref_site()
compute_coverage_stats()
get_allele_number_agg_func()
compute_allele_number_per_ref_site()
filter_ref_blocks()
- transcript_annotation
REPRODUCTIVE_TISSUES
CELL_LINES
get_tissues_to_exclude()
summarize_transcript_expression()
get_expression_proportion()
filter_expression_ht_by_tissues()
tissue_expression_ht_to_array()
tx_filter_variants_by_csqs()
tx_annotate_variants()
tx_aggregate_variants()
perform_tx_annotation_pipeline()
clean_tissue_name_for_browser()
create_tx_annotation_by_region()
- vcf
SORT_ORDER
GROUPS
HISTS
FAF_POPS
SEXES
AS_FIELDS
SITE_FIELDS
ALLELE_TYPE_FIELDS
REGION_FLAG_FIELDS
JOINT_REGION_FLAG_FIELDS
RF_FIELDS
AS_VQSR_FIELDS
VQSR_FIELDS
INFO_DICT
IN_SILICO_ANNOTATIONS_INFO_DICT
VRS_FIELDS_DICT
ENTRIES
SPARSE_ENTRIES
FORMAT_DICT
adjust_vcf_incompatible_types()
make_label_combos()
index_globals()
make_combo_header_text()
create_label_groups()
make_info_dict()
add_as_info_dict()
make_vcf_filter_dict()
make_hist_bin_edges_expr()
make_hist_dict()
set_female_y_metrics_to_na()
build_vcf_export_reference()
rekey_new_reference()
- vep
CURRENT_VEP_VERSION
CSQ_CODING
CSQ_SPLICE
POSSIBLE_REFS
VEP_CONFIG_PATH
VEP_CSQ_FIELDS
VEP_CSQ_HEADER
LOFTEE_LABELS
LOF_CSQ_SET
get_vep_help()
get_vep_context()
vep_or_lookup_vep()
get_most_severe_consequence_expr()
add_most_severe_consequence_to_consequence()
process_consequences()
filter_vep_to_canonical_transcripts()
filter_vep_to_mane_select_transcripts()
filter_vep_to_synonymous_variants()
filter_vep_to_gene_list()
vep_struct_to_csq()
get_most_severe_consequence_for_summary()
filter_vep_transcript_csqs()
filter_vep_transcript_csqs_expr()
add_most_severe_csq_to_tc_within_vep_root()
explode_by_vep_annotation()