DeepRVAT
Contents:
Installation
Quick start
Modes of usage
DeepRVAT preprocessing pipeline
DeepRVAT annotation pipeline
Seed gene discovery
DeepRVAT configuration and input data
Association testing with precomputed gene impairment scores
Association testing using pretrained DeepRVAT models
Training and association testing
Output file formats
Cluster execution
Practical recommendations for training
Applying DeepRVAT to UK Biobank data
API Reference
DeepRVAT
Index
Index
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A
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B
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C
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D
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E
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F
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G
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H
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I
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L
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M
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O
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P
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Q
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R
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S
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T
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U
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W
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__call__() (deeprvat.metrics.AveragePrecisionWithLogits method)
(deeprvat.metrics.PearsonCorr method)
(deeprvat.metrics.PearsonCorrTorch method)
(deeprvat.metrics.RSquared method)
__getitem__() (deeprvat.data.dense_gt.DenseGTDataset method)
(deeprvat.deeprvat.train.MultiphenoDataset method)
__len__() (deeprvat.data.dense_gt.DenseGTDataset method)
(deeprvat.deeprvat.train.MultiphenoDataset method)
_add_annotation_cols() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
A
ACTIVATIONS (in module deeprvat.deeprvat.train)
add_gene_ids() (in module deeprvat.annotations.annotations)
add_ids() (in module deeprvat.annotations.annotations)
add_ids_dask() (in module deeprvat.annotations.annotations)
add_variant_ids() (in module deeprvat.preprocessing.preprocess)
AGG_FCT (in module deeprvat.deeprvat.associate)
aggregate_abscores() (in module deeprvat.annotations.annotations)
aggregate_and_concat_absplice() (in module deeprvat.annotations.annotations)
aggregate_pvals_per_gene() (in module deeprvat.deeprvat.evaluate)
AGGREGATIONS (in module deeprvat.data.dense_gt)
apply_thresholds() (deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
average_burdens() (in module deeprvat.deeprvat.associate)
AveragePrecisionWithLogits (class in deeprvat.metrics)
B
BASELINE_GROUPS (in module deeprvat.deeprvat.evaluate)
BaseModel (class in deeprvat.deeprvat.models)
best_training_run() (in module deeprvat.deeprvat.train)
bfcorrect_df() (in module deeprvat.utils)
BURDEN_SKAT_RENAME (in module deeprvat.deeprvat.evaluate)
C
calculate_beta_maf_weights() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
calculate_maf() (in module deeprvat.annotations.annotations)
calculate_mean_std() (in module deeprvat.utils)
calculate_pearsonr() (deeprvat.metrics.PearsonCorrTorch method)
calculate_scores_max() (in module deeprvat.annotations.annotations)
calculate_sift_polyphen_weights() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
call_score() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
center() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
chunks() (in module deeprvat.annotations.annotations)
cli() (in module deeprvat.annotations.annotations)
(in module deeprvat.cv_utils)
(in module deeprvat.deeprvat.associate)
(in module deeprvat.deeprvat.common_variant_condition_utils)
(in module deeprvat.deeprvat.config)
(in module deeprvat.deeprvat.train)
(in module deeprvat.preprocessing.preprocess)
(in module deeprvat.seed_gene_discovery.evaluate)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
collapse_burden() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
collate_fn() (deeprvat.data.dense_gt.DenseGTDataset method)
(deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
combine_burden_chunks() (in module deeprvat.deeprvat.associate)
combine_burden_chunks_() (in module deeprvat.deeprvat.associate)
combine_genotypes() (in module deeprvat.preprocessing.preprocess)
combine_regression_results() (in module deeprvat.deeprvat.associate)
combine_results() (in module deeprvat.deeprvat.evaluate)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
combine_test_set_burdens() (in module deeprvat.cv_utils)
compression_level (in module deeprvat.deeprvat.common_variant_condition_utils)
compute_burdens() (in module deeprvat.deeprvat.associate)
compute_burdens_() (in module deeprvat.deeprvat.associate)
compute_plof() (in module deeprvat.annotations.annotations)
compute_se() (in module deeprvat.utils)
compute_xy() (in module deeprvat.deeprvat.associate)
compute_xy_() (in module deeprvat.deeprvat.associate)
concat_annotations() (in module deeprvat.annotations.annotations)
concatenate_deepsea() (in module deeprvat.annotations.annotations)
configure_callbacks() (deeprvat.deeprvat.models.BaseModel method)
configure_optimizers() (deeprvat.deeprvat.models.BaseModel method)
convert2bed() (in module deeprvat.annotations.annotations)
convert_regenie_output() (in module deeprvat.deeprvat.associate)
convert_regenie_output_() (in module deeprvat.deeprvat.associate)
copy_with_env() (in module deeprvat.utils)
count_unique() (in module deeprvat.deeprvat.evaluate)
create_gene_id_file() (in module deeprvat.annotations.annotations)
create_main_config() (in module deeprvat.deeprvat.config)
create_sg_discovery_config() (in module deeprvat.deeprvat.config)
D
DATA_SLOT_DICT (in module deeprvat.cv_utils)
deepripe_encode_variant_bedline() (in module deeprvat.annotations.annotations)
deepripe_get_model_info() (in module deeprvat.annotations.annotations)
deepripe_score_variant_onlyseq_all() (in module deeprvat.annotations.annotations)
deeprvat
module
deeprvat.annotations
module
deeprvat.annotations.annotations
module
deeprvat.cv_utils
module
deeprvat.data
module
deeprvat.data.dense_gt
module
deeprvat.data.rare
module
deeprvat.deeprvat
module
deeprvat.deeprvat.associate
module
deeprvat.deeprvat.common_variant_condition_utils
module
deeprvat.deeprvat.config
module
deeprvat.deeprvat.evaluate
module
deeprvat.deeprvat.models
module
deeprvat.deeprvat.train
module
deeprvat.metrics
module
deeprvat.preprocessing
module
deeprvat.preprocessing.preprocess
module
deeprvat.seed_gene_discovery
module
deeprvat.seed_gene_discovery.evaluate
module
deeprvat.seed_gene_discovery.seed_gene_discovery
module
deeprvat.utils
module
deepsea_pca() (in module deeprvat.annotations.annotations)
DeepSet (class in deeprvat.deeprvat.models)
DeepSetAgg (class in deeprvat.deeprvat.models)
DEFAULT_CHROMOSOMES (in module deeprvat.data.dense_gt)
DEFAULT_OPTIMIZER (in module deeprvat.deeprvat.train)
dense_to_sparse() (deeprvat.data.dense_gt.DenseGTDataset method)
DenseGTDataset (class in deeprvat.data.dense_gt)
drop_rows() (in module deeprvat.preprocessing.preprocess)
E
embed() (deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
evaluate() (in module deeprvat.deeprvat.evaluate)
(in module deeprvat.seed_gene_discovery.evaluate)
evaluate_() (in module deeprvat.deeprvat.evaluate)
(in module deeprvat.seed_gene_discovery.evaluate)
F
fdrcorrect_df() (in module deeprvat.utils)
filter_annotations_by_exon_distance() (in module deeprvat.annotations.annotations)
forward() (deeprvat.deeprvat.models.DeepSet method)
(deeprvat.deeprvat.models.DeepSetAgg method)
(deeprvat.deeprvat.models.LinearAgg method)
(deeprvat.deeprvat.models.TwoLayer method)
G
generate_test_config() (in module deeprvat.cv_utils)
get_af_from_gt() (in module deeprvat.annotations.annotations)
get_anno() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
get_annotations() (deeprvat.data.dense_gt.DenseGTDataset method)
get_baseline() (in module deeprvat.deeprvat.evaluate)
get_baseline_results() (in module deeprvat.deeprvat.evaluate)
get_burden() (in module deeprvat.deeprvat.associate)
get_caf() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
get_common_variants() (deeprvat.data.dense_gt.DenseGTDataset method)
get_file_chromosome() (in module deeprvat.preprocessing.preprocess)
get_hparam() (in module deeprvat.deeprvat.models)
get_matched_sample_indices() (in module deeprvat.data.dense_gt)
get_metadata() (deeprvat.data.dense_gt.DenseGTDataset method)
(deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
get_parquet_columns() (in module deeprvat.annotations.annotations)
get_pvals() (in module deeprvat.deeprvat.evaluate)
get_rare_variants() (deeprvat.data.dense_gt.DenseGTDataset method)
get_significant_genes() (in module deeprvat.deeprvat.common_variant_condition_utils)
get_stand_params() (deeprvat.data.dense_gt.DenseGTDataset method)
get_variant_groups() (deeprvat.data.dense_gt.DenseGTDataset method)
get_variant_ids() (deeprvat.data.dense_gt.DenseGTDataset method)
get_variant_metadata() (deeprvat.data.dense_gt.DenseGTDataset method)
get_weights() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
GotNone
H
handle_cv_options() (in module deeprvat.deeprvat.config)
handle_pretrained_models() (in module deeprvat.deeprvat.config)
handle_regenie_options() (in module deeprvat.deeprvat.config)
I
index_input_tensor_zarr() (deeprvat.deeprvat.train.MultiphenoDataset method)
L
LinearAgg (class in deeprvat.deeprvat.models)
load_models() (in module deeprvat.deeprvat.associate)
load_one_model() (in module deeprvat.deeprvat.associate)
load_or_init() (in module deeprvat.utils)
load_yaml() (in module deeprvat.deeprvat.config)
logger (in module deeprvat.annotations.annotations)
(in module deeprvat.cv_utils)
(in module deeprvat.data.dense_gt)
(in module deeprvat.data.rare)
(in module deeprvat.deeprvat.associate)
(in module deeprvat.deeprvat.common_variant_condition_utils)
(in module deeprvat.deeprvat.config)
(in module deeprvat.deeprvat.evaluate)
(in module deeprvat.deeprvat.models)
(in module deeprvat.deeprvat.train)
(in module deeprvat.metrics)
(in module deeprvat.preprocessing.preprocess)
(in module deeprvat.seed_gene_discovery.evaluate)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
(in module deeprvat.utils)
M
make_dataset() (in module deeprvat.deeprvat.associate)
(in module deeprvat.deeprvat.train)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
make_dataset_() (in module deeprvat.deeprvat.associate)
(in module deeprvat.deeprvat.train)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
make_regenie_input() (in module deeprvat.deeprvat.associate)
make_regenie_input_() (in module deeprvat.deeprvat.associate)
merge_abscores() (in module deeprvat.annotations.annotations)
merge_absplice_scores() (in module deeprvat.annotations.annotations)
merge_af() (in module deeprvat.annotations.annotations)
merge_annotations() (in module deeprvat.annotations.annotations)
merge_deepripe() (in module deeprvat.annotations.annotations)
merge_deepsea_pcas() (in module deeprvat.annotations.annotations)
METHOD_NAMES (in module deeprvat.deeprvat.evaluate)
METRICS (in module deeprvat.deeprvat.models)
(in module deeprvat.deeprvat.train)
min_Bonferroni_aggregate() (in module deeprvat.deeprvat.evaluate)
module
deeprvat
deeprvat.annotations
deeprvat.annotations.annotations
deeprvat.cv_utils
deeprvat.data
deeprvat.data.dense_gt
deeprvat.data.rare
deeprvat.deeprvat
deeprvat.deeprvat.associate
deeprvat.deeprvat.common_variant_condition_utils
deeprvat.deeprvat.config
deeprvat.deeprvat.evaluate
deeprvat.deeprvat.models
deeprvat.deeprvat.train
deeprvat.metrics
deeprvat.preprocessing
deeprvat.preprocessing.preprocess
deeprvat.seed_gene_discovery
deeprvat.seed_gene_discovery.evaluate
deeprvat.seed_gene_discovery.seed_gene_discovery
deeprvat.utils
module_folder_dict (in module deeprvat.cv_utils)
MultiphenoBaggingData (class in deeprvat.deeprvat.train)
MultiphenoDataset (class in deeprvat.deeprvat.train)
my_quantile_transform() (in module deeprvat.utils)
O
OPTIMIZERS (in module deeprvat.deeprvat.train)
P
PaddedAnnotations (class in deeprvat.data.rare)
parse_file_path_list() (in module deeprvat.preprocessing.preprocess)
PearsonCorr (class in deeprvat.metrics)
PearsonCorrTorch (class in deeprvat.metrics)
PLOF_COLS (in module deeprvat.deeprvat.associate)
postprocess_sparse_gt() (in module deeprvat.preprocessing.preprocess)
precision() (in module deeprvat.annotations.annotations)
prepare_genotypes_per_gene() (in module deeprvat.deeprvat.common_variant_condition_utils)
process_chunk() (in module deeprvat.annotations.annotations)
process_chunk_addids() (in module deeprvat.annotations.annotations)
process_deepripe() (in module deeprvat.annotations.annotations)
process_individual_missingness() (in module deeprvat.preprocessing.preprocess)
process_results() (in module deeprvat.deeprvat.evaluate)
process_sparse_gt() (in module deeprvat.preprocessing.preprocess)
process_sparse_gt_file() (in module deeprvat.preprocessing.preprocess)
process_vep() (in module deeprvat.annotations.annotations)
pval_correction() (in module deeprvat.utils)
Q
qqplot() (in module deeprvat.seed_gene_discovery.evaluate)
R
ragged_to_matrix() (in module deeprvat.preprocessing.preprocess)
read_deepripe_file() (in module deeprvat.annotations.annotations)
readYamlColumns() (in module deeprvat.annotations.annotations)
recall() (in module deeprvat.annotations.annotations)
regress() (in module deeprvat.deeprvat.associate)
regress_() (in module deeprvat.deeprvat.associate)
regress_common() (in module deeprvat.deeprvat.associate)
regress_common_() (in module deeprvat.deeprvat.associate)
regress_on_gene() (in module deeprvat.deeprvat.associate)
regress_on_gene_scoretest() (in module deeprvat.deeprvat.associate)
remap_group_ids() (deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
remove_prefix() (in module deeprvat.utils)
replace_in_array() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
REPO_DIR (in module deeprvat.deeprvat.config)
resolve_path_with_env() (in module deeprvat.utils)
reverse_models() (in module deeprvat.deeprvat.associate)
RSquared (class in deeprvat.metrics)
run_association() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
run_association_() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
run_bagging() (in module deeprvat.deeprvat.train)
S
safe_merge() (in module deeprvat.utils)
save_burdens() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
scorevariants_deepripe() (in module deeprvat.annotations.annotations)
select_rename_fill_annotations() (in module deeprvat.annotations.annotations)
separate_parallel_results() (in module deeprvat.deeprvat.associate)
seq_to_1hot() (in module deeprvat.annotations.annotations)
set_reverse() (deeprvat.deeprvat.models.DeepSetAgg method)
(deeprvat.deeprvat.models.LinearAgg method)
setup_annotations() (deeprvat.data.dense_gt.DenseGTDataset method)
(deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
setup_common_groups() (deeprvat.data.dense_gt.DenseGTDataset method)
setup_logging() (in module deeprvat.deeprvat.config)
setup_metadata() (deeprvat.data.rare.PaddedAnnotations method)
(deeprvat.data.rare.SparseGenotype method)
setup_phenotypes() (deeprvat.data.dense_gt.DenseGTDataset method)
setup_variants() (deeprvat.data.dense_gt.DenseGTDataset method)
setup_zarr() (deeprvat.data.dense_gt.DenseGTDataset method)
SparseGenotype (class in deeprvat.data.rare)
spread_config() (in module deeprvat.cv_utils)
standardize_series() (in module deeprvat.utils)
standardize_series_with_params() (in module deeprvat.utils)
subset_matrix() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
subset_samples() (in module deeprvat.deeprvat.train)
suggest_batch_size() (in module deeprvat.utils)
suggest_hparams() (in module deeprvat.utils)
T
test_epoch_end() (deeprvat.deeprvat.models.BaseModel method)
test_gene() (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
test_step() (deeprvat.deeprvat.models.BaseModel method)
train() (in module deeprvat.deeprvat.train)
train_dataloader() (deeprvat.deeprvat.train.MultiphenoBaggingData method)
training_step() (deeprvat.deeprvat.models.BaseModel method)
transform_data() (deeprvat.data.dense_gt.DenseGTDataset method)
TwoLayer (class in deeprvat.deeprvat.models)
U
update_config() (in module deeprvat.deeprvat.config)
(in module deeprvat.seed_gene_discovery.seed_gene_discovery)
update_defaults() (in module deeprvat.deeprvat.config)
update_full_config() (in module deeprvat.deeprvat.config)
update_thresholds() (in module deeprvat.deeprvat.config)
upsample() (deeprvat.deeprvat.train.MultiphenoBaggingData method)
V
val_dataloader() (deeprvat.deeprvat.train.MultiphenoBaggingData method)
validate_keys() (in module deeprvat.deeprvat.config)
validation_epoch_end() (deeprvat.deeprvat.models.BaseModel method)
validation_step() (deeprvat.deeprvat.models.BaseModel method)
VARIANT_TYPE_RENAME (in module deeprvat.deeprvat.evaluate)
variant_weight_th_dict (in module deeprvat.seed_gene_discovery.seed_gene_discovery)
W
write_genotype_file() (in module deeprvat.preprocessing.preprocess)