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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