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GitHub - arangrhie merfin: Evaluate variant calls and its combination . . . Please read it through before running Merfin Merfin can be used to: filter any variant calls for accurate genotyping (-filter: reference is from another individual, i e GRCh38) assess collapsed or duplicated region of the assembly (-hist or -dump) QV* for all scaffolds and the assembly (-hist) K* completeness (-completeness)
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Merfin: improved variant filtering, assembly evaluation and polishing . . . Merfin presents the first k-mer based variant filtering to the best of our knowledge, enabling higher precision in genotyping and improving assembly accuracy This will become critical particularly in medical genomics and many other applications, where reliable genotyping is essential
merfin on Biowulf G Formenti et al Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation Nature Methods 2022 PubMed | PMC | Journal