Quick Start =========== This 5-minute tutorial demonstrates basic WASP2 usage. Prerequisites ------------- You will need: * A coordinate-sorted, indexed BAM file (``sample.bam`` + ``sample.bam.bai``) * A phased VCF file with heterozygous variants (``variants.vcf.gz`` + ``.tbi``) These are typically produced by your alignment pipeline (BWA-MEM, STAR, etc.) followed by variant calling and phasing (GATK, WhatsHap, ShapeIt). Count Alleles ------------- Count allele-specific reads from a BAM file: .. code-block:: bash wasp2-count count-variants \ sample.bam \ variants.vcf.gz \ -s SAMPLE_ID \ --out_file counts.tsv Output: ``counts.tsv`` with columns: * chr, pos, ref, alt * ref_count, alt_count, other_count Analyze Allelic Imbalance -------------------------- Detect significant allelic imbalance: .. code-block:: bash wasp2-analyze find-imbalance \ counts.tsv \ --output results.tsv Output: ``results.tsv`` with columns: * region, ref_count, alt_count * p-value, FDR-corrected p-value * Statistical metrics Interpret Results ----------------- Significant imbalance (FDR < 0.05) indicates: * Preferential expression of one allele * Potential cis-regulatory variation * Technical artifacts (check coverage) Next Steps ---------- * :doc:`user_guide/counting` - Detailed counting options * :doc:`user_guide/mapping` - WASP remapping workflow * :doc:`user_guide/analysis` - Statistical models