genomic-coordinates
FeaturedConvert genomic intervals between coordinate conventions, normalise and compare variant representations, and detect assembly or contig-naming mismatches before they corrupt an analysis. Use whenever coordinates cross a format, tool, or assembly boundary - converting between BED, GFF/GTF, VCF, SAM/BAM, WIG, PSL, genePred, Picard interval_list, or region strings; reconciling 0-based half-open with 1-based inclusive; left-aligning or trimming indels; checking whether two variant records describe the same change; mapping genomic to transcript, CDS, or protein positions; auditing a BED/GTF/VCF for convention violations; or diagnosing GRCh37 vs hg19 vs GRCh38 vs T2T, chr-prefix, and liftover problems. Triggers include "off by one", "0-based", "1-based", "half-open", "coordinate system", "left-align", "normalize variant", "bcftools norm", "chr prefix", "wrong genome build", "liftover", "REF mismatch", and "HGVS".
Install
Quality Score: 99/100
Skill Content
Details
- Author
- K-Dense-AI
- Repository
- K-Dense-AI/scientific-agent-skills
- Created
- 11 months ago
- Last Updated
- 5 days ago
- Language
- Python
- License
- MIT
Similar Skills
Semantically similar based on skill content — not just same category
genomic-coordinates
Convert genomic intervals between coordinate conventions, normalise and compare variant representations, and detect assembly or contig-naming mismatches before they corrupt an analysis. Use whenever coordinates cross a format, tool, or assembly boundary - converting between BED, GFF/GTF, VCF, SAM/BAM, WIG, PSL, genePred, Picard interval_list, or region strings; reconciling 0-based half-open with 1-based inclusive; left-aligning or trimming indels; checking whether two variant records describe the same change; mapping genomic to transcript, CDS, or protein positions; auditing a BED/GTF/VCF for convention violations; or diagnosing GRCh37 vs hg19 vs GRCh38 vs T2T, chr-prefix, and liftover problems. Triggers include "off by one", "0-based", "1-based", "half-open", "coordinate system", "left-align", "normalize variant", "bcftools norm", "chr prefix", "wrong genome build", "liftover", "REF mismatch", and "HGVS".
liftover-coordinates
Convert genomic coordinates between assembly versions (GRCh37/hg19 to GRCh38/hg38, mm9 to mm10). Guides UCSC liftOver for BED files, CrossMap for VCF/bigWig, and handles unmapped regions with provenance logging.
genomics-precision-medicine
When the user wants to design, build, or integrate genomics and precision-medicine informatics. Use when the user mentions "genomics," "precision medicine," "VCF," "gVCF," "BAM," "CRAM," "FASTQ," "variant calling," "variant annotation," "HGVS," "ACMG," "AMP/CAP/ASCO," "ClinGen," "ClinVar," "PharmGKB," "CPIC," "pharmacogenomics," "PGx," "GA4GH," "VRS," "Phenopackets," "FHIR Genomics," "mCODE," "molecular tumor board," "liquid biopsy," "ctDNA," "MRD," "polygenic risk score," "PRS," "incidental findings," "ACMG SF," "GINA," "GRCh38," or "T2T-CHM13." For broader clinical AI lifecycle, see clinical-ai-ml. For SaMD on genomic algorithms, see fda-samd. For the EHR integration of orders/results, see ehr-integration and fhir-integration.