genomic-coordinates

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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".

Data & Documents 46,700 stars 4221 forks Updated 5 days ago MIT

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# Genomic Coordinates ## When to use Any time a coordinate crosses a boundary: between two file formats, between two tools, between two assemblies, or between the genome and a transcript. ## The rule **A coordinate is three facts, not one: the number, the convention it is written in, and the assembly it was measured against.** Carry all three or the number is not interpretable. Coordinate errors are the quietest class of bug in genomics. An off-by-one BED file parses, sorts, and intersects without complaint. A GRCh37 VCF joined against a GRCh38 annotation returns rows. A right-shifted indel simply fails to match its entry in ClinVar, and the result is a variant reported as novel. Nothing raises an error; the answer is just wrong, and it is wrong in a direction that looks plausible. So: convert with the table, not from memory, and verify against the reference whenever a reference is available. ## The two conversions ``` 1-based inclusive -> 0-based half-open : start - 1, end 0-based half-open -> 1-based inclusive : start + 1, end ``` The end coordinate never moves. If a conversion changed both numbers, it is wrong. ## Which format is which | 0-based, half-open | 1-based, inclusive | | --- | --- | | BED, bedGraph, bigWig, narrowPeak | GFF3, GTF, VCF | | BAM/CRAM (binary POS) | SAM (text POS) | | PSL, genePred, refFlat | WIG, Picard interval_list | | MAF (UCSC multiple alignment) | MAF (TCGA mutation annotation) | | PyRanges, pybedtools | GRanges/IRanges, samt...

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Author
K-Dense-AI
Repository
K-Dense-AI/scientific-agent-skills
Created
11 months ago
Last Updated
5 days ago
Language
Python
License
MIT

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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".

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