diff --git a/README.md b/README.md index 1d5fe0a..c01fe36 100644 --- a/README.md +++ b/README.md @@ -38,7 +38,7 @@ man ./minimap2.1 - [Advanced features](#advanced) - [Working with >65535 CIGAR operations](#long-cigar) - [The cs optional tag](#cs) - - [Evaluation scripts](#eval) + - [Working with the PAF format](#paftools) - [Algorithm overview](#algo) - [Getting help](#help) - [Citing minimap2](#cite) @@ -256,26 +256,13 @@ the alignment. The above example will become `=CGATCG-ata=AATAGAGTAG+gtc=GAAT*at=GCA`. The long form of `cs` encodes both reference and query sequences in one string. -#### Evaluation scripts +#### Working with the PAF format -Minimap2 comes with several (java)scripts for evaluating the accuracy of -minimap2. These scripts require the [k8][k8] javascript shell to run. -Recent minimap2 binary release tar-balls contain a copy of k8 executable, a -single file. Here are a few examples on how to use these scripts: - -```sh -# Generate reads from PBSIM alignment (truth encoded in read names) -k8 misc/sim-pbsim.js ref.fa.fai pbsim-aln.maf > pbsim-reads.fq -# Generate reads from mason2 alignment (not tested for simulated SVs) -k8 misc/sim-mason2.js mason2-aln.sam > mason2-reads.fq -# Evaluate mapping accuracy with ROC-like curve -k8 misc/sim-eval.js my-aln.sam.gz > result.txt -k8 misc/sim-eval.js my-aln.paf.gz > result.txt -# Collect alignment statistics -k8 misc/mapstat.js my-aln.sam > result.txt -# Compare spliced junctions to existing gene annotations -k8 misc/intron-eval.js anno.gtf my-spliced-aln.sam > result.txt -``` +Minimap2 also comes with a (java)script [paftools.js](misc/paftools.js) that +processes alignments in the PAF format. It calls variants from +assembly-to-reference alignment, lifts over BED files based on alignment, +converts between formats and provides utilities for various evaluations. For +details, please see [misc/README.md](misc/README.md). ### Algorithm overview diff --git a/minimap2.1 b/minimap2.1 index c8311a5..1bd735c 100644 --- a/minimap2.1 +++ b/minimap2.1 @@ -271,11 +271,22 @@ Cost for a non-canonical GT-AG splicing (effective with .BR --splice ) [0] .TP -.BI -z \ INT -Break an alignment if the running score drops too quickly along the diagonal of -the DP matrix (diagonal X-drop, or Z-drop) [400]. Increasing the value improves -the contiguity of the alignment at the cost of poor alignment in the middle -(e.g. caused by a long inversion). +.BI -z \ INT1[,INT2] +Truncate an alignment if the running alignment score drops too quickly along +the diagonal of the DP matrix (diagonal X-drop, or Z-drop) [400,200]. If the +drop of score is above +.IR INT2 , +minimap2 will reverse complement the query in the related region and align +again to test small inversions. Minimap2 truncates alignment if there is an +inversion or the drop of score is greater than +.IR INT1 . +Decrease +.I INT2 +to find small inversions at the cost of performance and false positives. +Increase +.I INT1 +to improves the contiguity of alignment at the cost of poor alignment in the +middle. .TP .BI -s \ INT Minimal peak DP alignment score to output [40]. The peak score is computed from