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README.md
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README.md
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@ -38,7 +38,7 @@ man ./minimap2.1
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- [Advanced features](#advanced)
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- [Working with >65535 CIGAR operations](#long-cigar)
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- [The cs optional tag](#cs)
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- [Evaluation scripts](#eval)
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- [Working with the PAF format](#paftools)
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- [Algorithm overview](#algo)
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- [Getting help](#help)
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- [Citing minimap2](#cite)
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@ -256,26 +256,13 @@ the alignment. The above example will become
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`=CGATCG-ata=AATAGAGTAG+gtc=GAAT*at=GCA`. The long form of `cs` encodes both
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reference and query sequences in one string.
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#### <a name="eval"></a>Evaluation scripts
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#### <a name="paftools"></a>Working with the PAF format
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Minimap2 comes with several (java)scripts for evaluating the accuracy of
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minimap2. These scripts require the [k8][k8] javascript shell to run.
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Recent minimap2 binary release tar-balls contain a copy of k8 executable, a
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single file. Here are a few examples on how to use these scripts:
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```sh
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# Generate reads from PBSIM alignment (truth encoded in read names)
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k8 misc/sim-pbsim.js ref.fa.fai pbsim-aln.maf > pbsim-reads.fq
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# Generate reads from mason2 alignment (not tested for simulated SVs)
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k8 misc/sim-mason2.js mason2-aln.sam > mason2-reads.fq
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# Evaluate mapping accuracy with ROC-like curve
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k8 misc/sim-eval.js my-aln.sam.gz > result.txt
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k8 misc/sim-eval.js my-aln.paf.gz > result.txt
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# Collect alignment statistics
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k8 misc/mapstat.js my-aln.sam > result.txt
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# Compare spliced junctions to existing gene annotations
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k8 misc/intron-eval.js anno.gtf my-spliced-aln.sam > result.txt
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```
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Minimap2 also comes with a (java)script [paftools.js](misc/paftools.js) that
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processes alignments in the PAF format. It calls variants from
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assembly-to-reference alignment, lifts over BED files based on alignment,
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converts between formats and provides utilities for various evaluations. For
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details, please see [misc/README.md](misc/README.md).
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### <a name="algo"></a>Algorithm overview
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21
minimap2.1
21
minimap2.1
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@ -271,11 +271,22 @@ Cost for a non-canonical GT-AG splicing (effective with
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.BR --splice )
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[0]
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.TP
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.BI -z \ INT
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Break an alignment if the running score drops too quickly along the diagonal of
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the DP matrix (diagonal X-drop, or Z-drop) [400]. Increasing the value improves
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the contiguity of the alignment at the cost of poor alignment in the middle
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(e.g. caused by a long inversion).
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.BI -z \ INT1[,INT2]
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Truncate an alignment if the running alignment score drops too quickly along
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the diagonal of the DP matrix (diagonal X-drop, or Z-drop) [400,200]. If the
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drop of score is above
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.IR INT2 ,
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minimap2 will reverse complement the query in the related region and align
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again to test small inversions. Minimap2 truncates alignment if there is an
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inversion or the drop of score is greater than
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.IR INT1 .
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Decrease
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.I INT2
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to find small inversions at the cost of performance and false positives.
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Increase
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.I INT1
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to improves the contiguity of alignment at the cost of poor alignment in the
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middle.
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.TP
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.BI -s \ INT
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Minimal peak DP alignment score to output [40]. The peak score is computed from
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