Catalog¶
Tasks¶
| Name | Description | Parameters |
|---|---|---|
apply_bqsr |
Apply Base Quality Score Recalibration to a BAM file. | alignment (Alignment), ref (Reference), bqsr_report (BQSRReport) |
apply_vqsr |
Apply VQSR recalibration to a VCF using GATK ApplyVQSR. | vcf (Variants), ref (Reference), vqsr_model (VQSRModel), truth_sensitivity_filter_level (float | NoneType) |
base_recalibrator |
Generate a Base Quality Score Recalibration report. | alignment (Alignment), ref (Reference), known_sites (list[KnownSites]) |
bwa_index |
Create BWA index files for a reference genome using bwa index. | ref (Reference) |
bwa_mem |
Align FASTQ reads to reference genome using BWA-MEM. | ref (Reference), r1 (R1), r2 (R2 | NoneType), read_group (dict[str, str] | NoneType) |
bwa_mem2_index |
Create BWA-MEM2 index files for a reference genome. | ref (Reference) |
bwa_mem2_mem |
Align FASTQ reads to reference genome using BWA-MEM2. | ref (Reference), r1 (R1), r2 (R2 | NoneType), read_group (dict[str, str] | NoneType) |
cluster |
Assign cells to clusters using the Leiden algorithm. | adata (AnnData), resolution (float), key_added (str) |
combine_gvcfs |
Combine multiple per-sample GVCFs into a single multi-sample GVCF. | gvcfs (list[Variants]), ref (Reference), cohort_id (str) |
create_sequence_dictionary |
Create a sequence dictionary (.dict file) using GATK CreateSequenceDictionary. | ref (Reference) |
find_markers |
Identify marker genes for each cluster using differential expression. | adata (AnnData), groupby (str), method (str) |
haplotype_caller |
Call germline variants in GVCF mode using GATK HaplotypeCaller. | alignment (Alignment), ref (Reference) |
index_feature_file |
Index a VCF file using GATK IndexFeatureFile. | known_sites (KnownSites) |
joint_call_gvcfs |
Consolidate GVCFs into GenomicsDB and joint-genotype in a single task. | gvcfs (list[Variants]), ref (Reference), intervals (list[str] | NoneType), cohort_id (str) |
mark_duplicates |
Mark duplicate reads in a BAM file. | alignment (Alignment) |
merge_bam_alignment |
Merge alignment data from aligned BAM with data in unmapped BAM. | aligned_bam (Alignment), unmapped_bam (Alignment), ref (Reference) |
normalize |
Normalize counts and apply log1p transformation. | adata (AnnData) |
qc_filter |
Filter low-quality cells and genes from raw scRNA-seq data. | adata (AnnData), min_genes (int), min_cells (int), max_pct_mt (float), batch_key (str) |
reduce_dimensions |
Compute PCA, k-nearest neighbor graph, and UMAP embedding. | adata (AnnData), n_pcs (int), n_neighbors (int) |
samtools_faidx |
Create a FASTA index (.fai file) using samtools faidx. | ref (Reference) |
select_features |
Select highly variable genes for dimensionality reduction. | adata (AnnData), n_top_genes (int), batch_key (str) |
sort_sam |
Sort a SAM/BAM file. | alignment (Alignment), sort_order (str) |
variant_recalibrator |
Build a VQSR recalibration model using GATK VariantRecalibrator. | vcf (Variants), ref (Reference), resources (list[KnownSites]), mode (str) |
Workflows¶
| Name | Description | Parameters |
|---|---|---|
germline_short_variant_discovery |
End-to-end germline short variant discovery from raw reads. | build (str), sample_ids (list[str]), cohort_id (str) |
prepare_reference |
Prepare reference genome for alignment and variant calling. | build (str) |
preprocess_sample |
Pre-process a single sample's reads for variant calling. | build (str), sample_id (str) |
scrna_clustering_pipeline |
End-to-end scRNA-seq clustering pipeline. | sample_id (str), n_top_genes (int), resolution (float), max_pct_mt (float) |
Asset Types¶
| Asset Key | Class | Module | Fields |
|---|---|---|---|
aligner_index |
AlignerIndex |
assets/reference.py |
aligner, build, companion_of |
alignment |
Alignment |
assets/alignment.py |
bqsr_applied, duplicates_marked, r1_cid, reference_cid, sample_id, sorted, tool |
alignment_index |
AlignmentIndex |
assets/alignment.py |
companion_of, sample_id |
anndata |
AnnData |
assets/scrna.py |
n_obs, n_vars, organism, sample_id, source_cid, stage |
bqsr_report |
BQSRReport |
assets/alignment.py |
alignment_cid, sample_id, tool |
duplicate_metrics |
DuplicateMetrics |
assets/alignment.py |
alignment_cid, sample_id, tool |
known_sites |
KnownSites |
assets/variants.py |
build, known, prior, resource_name, training, truth, vqsr_mode |
known_sites_index |
KnownSitesIndex |
assets/variants.py |
companion_of |
notebook |
Notebook |
assets/notebook.py |
description, slug, title |
r1 |
R1 |
assets/reads.py |
mate_cid, sample_id, sequencing_platform |
r2 |
R2 |
assets/reads.py |
mate_cid, sample_id, sequencing_platform |
reference |
Reference |
assets/reference.py |
build |
reference_index |
ReferenceIndex |
assets/reference.py |
build, companion_of, tool |
sequence_dict |
SequenceDict |
assets/reference.py |
build, companion_of, tool |
variants |
Variants |
assets/variants.py |
build, caller, sample_count, sample_id, source_samples, variant_type, vqsr_mode |
variants_index |
VariantsIndex |
assets/variants.py |
companion_of, sample_id |
vqsr_model |
VQSRModel |
assets/variants.py |
build, mode, sample_id, variants_cid |
vqsr_model_index |
VQSRModelIndex |
assets/variants.py |
companion_of, sample_id |
vqsr_tranches |
VQSRTranches |
assets/variants.py |
companion_of, sample_id |
Bundles¶
| Name | Description | Files |
|---|---|---|
scrna_demo |
Human bone marrow mononuclear cells from two healthy donors (10x Multiome gene expression) for demo workflows | 2 |
variant_calling_demo |
TP53 region test fixtures (reference and paired reads) for GRCh38 | 3 |