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@ielis ielis commented Dec 12, 2025

The PR fixes improper functional annotation of the variants affecting the mitochondrial genome.

VEP does not provide RefSeq transcript ids for the MT genes and Gpsea was ignoring the non-RefSeq-looking transcripts.

@ielis ielis merged commit 19fbb43 into develop Dec 12, 2025
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@ielis ielis deleted the fix-functional-annotation-of-mt-variants branch December 12, 2025 13:32
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2 participants