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lines changed Original file line number Diff line number Diff line change @@ -114,8 +114,8 @@ long read data should still work.
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* Whole-genome and targeted genotyping modes to adjust this re-weighting.
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* Incorporation of single-nucleotide variation (SNVs) for better and faster calling plus
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additional downstream analysis possibilities.
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- * Recommended for ** HiFi data and ONT duplex data only** . In my testing, this worsens runtime and call quality for
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- ONT ultra-long-read data, but speeds up the tool and improves call quality for HiFi/ONT duplex data.
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+ * Recommended for ** HiFi data and ONT R10 data only** . In my testing, this worsens runtime and call quality for
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+ ONT ultra-long-read data, but speeds up the tool and improves call quality for HiFi/ONT R10 data.
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* Parallelized for faster computing on clusters and for ad-hoc fast analysis of single samples.
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* 95% confidence intervals on calls via a user-configurable optional parametric bootstrapping process.
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** Default:** 70
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* ` --realign ` or ` -a ` : Whether to perform local re-alignment to attempt recovery of soft-clipped reads. Some aligners
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may soft-clip around large insertions, e.g. with an expansion (I've noticed this with * pbmm2* /* minimap2* ).
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- Currently recommended ** for HiFi or ONT duplex only** , since this step aggressively filters out realignments with many
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- mismatches or small indels. Enabling this slows down calling, so it may not be suitable for a very large catalog of
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- tandem repeats.
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+ Currently recommended ** for HiFi or ONT R10 only** , since this step aggressively filters out realignments with
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+ many mismatches or small indels. Enabling this slows down calling, so it may not be suitable for a very large catalog
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+ of tandem repeats.
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* ` --hq ` : Whether to treat provided reads as "high quality", i.e., fairly close to the actual true sequence. Used when
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detecting expansions, to skip a smoothing filter that may ignore disparate, rare expansion-like read counts.
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- Use for CCS reads or similar data (e.g., duplex nanopore data) ONLY! ** Default:** off
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+ Use for CCS reads or similar data (e.g., R10 nanopore data) ONLY! ** Default:** off
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* ` --use-hp ` : Whether to incorporate ` HP ` tags from a haplotagged alignment file. This should speed up runtime and
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will potentially improve calling results. ** This flag is experimental, and has not been tested extensively.**
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* ` --incorporate-snvs [path] ` or ` --snv [path] ` : A path to a VCF with SNVs to incorporate into the calling process and
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