Examples ******** BAM/CRAM smoke run ================== This run uses the small fixture bundled with the test suite: .. code-block:: console wisp from-alignments \ --samples tests/test_data/1000g_5sample_chr20_smoke/samples.tsv \ --min-dp 10 \ --mask tests/test_data/1000g_5sample_chr20_smoke/targets.bed \ --out results/chr20_smoke \ --work work/chr20_smoke \ --threads 2 \ --jobs 2 Expected outputs: .. code-block:: text results/chr20_smoke/wisp.bed.gz results/chr20_smoke/wisp.bed.gz.tbi Keep intermediate files ======================= Add ``--keep-work`` to inspect the mosdepth outputs, sample pass BEDs, and ``bedtools multiinter`` results: .. code-block:: console wisp from-alignments \ --samples tests/test_data/1000g_5sample_chr20_smoke/samples.tsv \ --min-dp 10 \ --mask tests/test_data/1000g_5sample_chr20_smoke/targets.bed \ --out results/chr20_debug \ --work work/chr20_debug \ --keep-work BAM/CRAM with a variants-only VCF ================================= Use ``--variants-vcf`` when you have a variants-only VCF from the same callset and want ``wisp`` to estimate omitted alignment thresholds and mask non-SNP variant spans: .. code-block:: console wisp from-alignments \ --samples tests/test_data/1000g_5sample_chr20_smoke/samples.tsv \ --variants-vcf validation/cohort.variants.vcf.gz \ --mask tests/test_data/1000g_5sample_chr20_smoke/targets.bed \ --out results/chr20_variants_vcf \ --work work/chr20_variants_vcf \ --threads 2 \ --jobs 2 Manual threshold flags override VCF-derived estimates: .. code-block:: console wisp from-alignments \ --samples samples.tsv \ --variants-vcf cohort.variants.vcf.gz \ --min-dp 8 \ --max-dp 80 \ --min-mapq 30 \ --out results/manual_thresholds All-sites VCF run ================= When you have a prefiltered all-sites VCF with per-sample DP values: .. code-block:: console wisp from-vcf \ --all-sites-vcf validation/1000g_20sample_highcov_4chrom_subset/1000g_20samples_highcov_4chroms.all_sites.bam_call.trim_alt.vcf.gz \ --popfile validation/1000g_20sample_highcov_4chrom_subset/sample_populations.tsv \ --min-dp 10 \ --max-dp 80 \ --mask validation/1000g_20sample_highcov_4chrom_subset/targets.bed \ --out results/vcf_mode \ --work work/vcf_mode Query the output ================ The final BED is tabix-indexed, so you can slice it directly: .. code-block:: console tabix results/chr20_smoke/wisp.bed.gz chr20:10000000-10010000 Note that BED coordinates are 0-based and half-open, while tabix region strings are 1-based inclusive. Overwrite existing outputs ========================== ``wisp`` refuses to overwrite final outputs unless ``--force`` is passed: .. code-block:: console wisp from-alignments \ --samples tests/test_data/1000g_5sample_chr20_smoke/samples.tsv \ --min-dp 10 \ --mask tests/test_data/1000g_5sample_chr20_smoke/targets.bed \ --out results/chr20_smoke \ --force