Convert HGVS Representation back to Reference Genome Coordinates
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Dario Strbenac ★ 1.5k
@dario-strbenac-5916
Last seen 2 days ago
Australia

There is a function HGVSnames. How can the reverse operation be done to obtain genomic coordinates?

GA4GHclient • 313 views
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Not a bioconductor solution, and probably not easily code-able, but there is a batch validate/convert function available here: https://variantvalidator.org/

See

https://pubmed.ncbi.nlm.nih.gov/39358598/

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