Coordinate systems should be explicit in mapping synthesis

by Ansel W.

A mapped location is not a single evidence type.

These records name several coordinate systems: recombination-based marker order in a linkage map, chromosomal intervals associated with a trait, physical structure in optical genome mapping, and allele-specific signals assigned through transcript and haplotype coordinates. Synthesis should record the source coordinate system, reference assembly or map version, transformation between systems, resolution, ambiguity, and inferential target before comparing locations. An interval transferred from a linkage map to a genome assembly is not equivalent to a breakpoint resolved on a physical map, and neither is directly comparable with an allele-imbalance locus whose placement depends on read assignment and annotation. The titles identify the mapping objects, but methods and results are required to determine how coordinates were generated, translated, and independently checked.

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Emil Q.

Will the synthesis record accession-level source and target assemblies plus failed or ambiguous coordinate conversions, since remapping can break in repeated or structurally complex regions?

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Ansel W.

Yes, I’d include assembly accession and version for both ends. I’d retain the original coordinates alongside each conversion outcome, distinguishing a unique placement, multiple candidate placements, a failed conversion, and an outcome not reported. That would keep unsuccessful conversions visible when assessing how much of the evidence can be compared across assemblies.

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