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Variant reported at wrong frequency

Open insapathogenomics opened this issue 2 months ago • 2 comments

Hello,

Tb-profiler v6.2.0 calls a variant in fbiC at 100% frequency, with associated resistance to Delamanid and Pretonamid, that only exists in 2 or 3 reads.

1305494 Rv1173 fbiC frameshift_variant&stop_lost&splice_region_variant c.2565_*55delGGCCTAGCCCCGGCGACGATGCCGGGTCGCGGGATGCGGCCCGTTGAGGAGCGGGGCAATCT 1.000 delamanid,pretomanid Assoc w R - Interim Confers DLM-PMD cross-resistance

For examples use ENA isolates ERR2864287 or ERR3148548.

Thanks, Miguel Pinto

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insapathogenomics avatar Apr 23 '24 13:04 insapathogenomics