NEWS.md

Release 2.17-r941 (4 May 2019)

Changes since the last release:

• Fixed flawed CIGARs like 5I6D7I (#392).

• Bugfix: TLEN should be 0 when either end is unmapped (#373 and #365).

• Bugfix: mappy is unable to write index (#372).

• Added option --junc-bed to load known gene annotations in the BED12 format. Minimap2 prefers annotated junctions over novel junctions (#197 and #348). GTF can be converted to BED12 with paftools.js gff2bed.

• Added option --sam-hit-only to suppress unmapped hits in SAM (#377).

• Added preset splice:hq for high-quality CCS or mRNA sequences. It applies better scoring and improves the sensitivity to small exons. This preset may introduce false small introns, but the overall accuracy should be higher.

This version produces nearly identical alignments to v2.16, except for CIGARs affected by the bug mentioned above.

(2.17: 5 May 2019, r941)

Release 2.16-r922 (28 February 2019)

This release is 50% faster for mapping ultra-long nanopore reads at comparable accuracy. For short-read mapping, long-read overlapping and ordinary long-read mapping, the performance and accuracy remain similar. This speedup is achieved with a new heuristic to limit the number of chaining iterations (#324). Users can disable the heuristic by increasing a new option --max-chain-iter to a huge number.

Other changes to minimap2:

• Implemented option --paf-no-hit to output unmapped query sequences in PAF. The strand and reference name columns are both * at an unmapped line. The hidden option is available in earlier minimap2 but had a different 2-column output format instead of PAF.

• Fixed a bug that leads to wrongly calculated de tags when ambiguous bases are involved (#309). This bug only affects v2.15.

• Fixed a bug when parsing command-line option --splice (#344). This bug was introduced in v2.13.

• Fixed two division-by-zero cases (#326). They don't affect final alignments because the results of the divisions are not used in both case.

• Added an option -o to output alignments to a specified file. It is still recommended to use UNIX pipes for on-the-fly conversion or compression.

• Output a new rl tag to give the length of query regions harboring repetitive seeds.

Changes to paftool.js:

• Added a new option to convert the MD tag to the long form of the cs tag.

Changes to mappy:

• Added the mappy.Aligner.seq_names method to return sequence names (#312).

For NA12878 ultra-long reads, this release changes the alignments of <0.1% of reads in comparison to v2.15. All these reads have highly fragmented alignments and are likely to be problematic anyway. For shorter or well aligned reads, this release should produce mostly identical alignments to v2.15.

(2.16: 28 February 2019, r922)

Release 2.15-r905 (10 January 2019)

Changes to minimap2:

• Fixed a rare segmentation fault when option -H is in use (#307). This may happen when there are very long homopolymers towards the 5'-end of a read.

• Fixed wrong CIGARs when option --eqx is used (#266).

• Fixed a typo in the base encoding table (#264). This should have no practical effect.

• Fixed a typo in the example code (#265).

• Improved the C++ compatibility by removing "register" (#261). However, minimap2 still can't be compiled in the pedantic C++ mode (#306).

• Output a new "de" tag for gap-compressed sequence divergence.

Changes to paftools.js:

• Added "asmgene" to evaluate the completeness of an assembly by measuring the uniquely mapped single-copy genes. This command learns the idea of BUSCO.

• Added "vcfpair" to call a phased VCF from phased whole-genome assemblies. An earlier version of this script is used to produce the ground truth for the syndip benchmark [PMID:30013044].

This release produces identical alignment coordinates and CIGARs in comparison to v2.14. Users are advised to upgrade due to the several bug fixes.

(2.15: 10 Janurary 2019, r905)

Release 2.14-r883 (5 November 2018)

Notable changes:

• Fixed two minor bugs caused by typos (#254 and #266).

• Fixed a bug that made minimap2 abort when --eqx was used together with --MD or --cs (#257).

• Added --cap-sw-mem to cap the size of DP matrices (#259). Base alignment may take a lot of memory in the splicing mode. This may lead to issues when we run minimap2 on a cluster with a hard memory limit. The new option avoids unlimited memory usage at the cost of missing a few long introns.

• Conforming to C99 and C11 when possible (#261).

• Warn about malformatted FASTA or FASTQ (#252 and #255).

This release occasionally produces base alignments different from v2.13. The overall alignment accuracy remain similar.

(2.14: 5 November 2018, r883)

Release 2.13-r850 (11 October 2018)

Changes to minimap2:

• Fixed wrongly formatted SAM when -L is in use (#231 and #233).

• Fixed an integer overflow in rare cases.

• Added --hard-mask-level to fine control split alignments (#244).

• Made --MD work with spliced alignment (#139).

• Replaced musl's getopt with ketopt for portability.

• Log peak memory usage on exit.

This release should produce alignments identical to v2.12 and v2.11.

(2.13: 11 October 2018, r850)

Release 2.12-r827 (6 August 2018)

Changes to minimap2:

• Added option --split-prefix to write proper alignments (correct mapping quality and clustered query sequences) given a multi-part index (#141 and #189; mostly by @hasindu2008).

• Fixed a memory leak when option -y is in use.

Changes to mappy:

• Support the MD/cs tag (#183 and #203).

• Allow mappy to index a single sequence, to add extra flags and to change the scoring system.

Minimap2 should produce alignments identical to v2.11.

(2.12: 6 August 2018, r827)

Release 2.11-r797 (20 June 2018)

Changes to minimap2:

• Improved alignment accuracy in low-complexity regions for SV calling. Thank @armintoepfer for multiple offline examples.

• Added option --eqx to encode sequence match/mismatch with the =/X CIGAR operators (#156, #157 and #175).

• When compiled with VC++, minimap2 generated wrong alignments due to a comparison between a signed integer and an unsigned integer (#184). Also fixed warnings reported by "clang -Wextra".

• Fixed incorrect anchor filtering due to a missing 64- to 32-bit cast.

• Fixed incorrect mapping quality for inversions (#148).

• Fixed incorrect alignment involving ambiguous bases (#155).

• Fixed incorrect presets: option -r 2000 is intended to be used with ava-ont, not ava-pb. The bug was introduced in 2.10.

• Fixed a bug when --for-only/--rev-only is used together with --sr or --heap-sort=yes (#166).

• Fixed option -Y that was not working in the previous releases.

• Added option --lj-min-ratio to fine control the alignment of long gaps found by the "long-join" heuristic (#128).

• Exposed mm_idx_is_idx, mm_idx_load and mm_idx_dump C APIs (#177). Also fixed a bug when indexing without reference names (this feature is not exposed to the command line).

Changes to mappy:

• Added __version__ (#165).

• Exposed the maximum fragment length parameter to mappy (#174).

Changes to paftools:

• Don't crash when there is no "cg" tag (#153).

• Fixed wrong coverage report by "paftools.js call" (#145).

This version may produce slightly different base-level alignment. The overall alignment statistics should remain similar.

(2.11: 20 June 2018, r797)

Release 2.10-r761 (27 March 2018)

Changes to minimap2:

• Optionally output the MD tag for compatibility with existing tools (#63, #118 and #137).

• Use SSE compiler flags more precisely to prevent compiling errors on certain machines (#127).

• Added option --min-occ-floor to set a minimum occurrence threshold. Presets intended for assembly-to-reference alignment set this option to 100. This option alleviates issues with regions having high copy numbers (#107).

• Exit with non-zero code on file writing errors (e.g. disk full; #103 and #132).

• Added option -y to copy FASTA/FASTQ comments in query sequences to the output (#136).

• Added the asm20 preset for alignments between genomes at 5-10% sequence divergence.

• Changed the band-width in the ava-ont preset from 500 to 2000. Oxford Nanopore reads may contain long deletion sequencing errors that break chaining.

Changes to mappy, the Python binding:

• Fixed a typo in Align.seq() (#126).

Changes to paftools.js, the companion script:

• Command sam2paf now converts the MD tag to cs.

• Support VCF output for assembly-to-reference variant calling (#109).

This version should produce identical alignment for read overlapping, RNA-seq read mapping, and genomic read mapping. We have also added a cook book to show the variety uses of minimap2 on real datasets. Please see cookbook.md in the minimap2 source code directory.

(2.10: 27 March 2017, r761)

Release 2.9-r720 (23 February 2018)

This release fixed multiple minor bugs.

• Fixed two bugs that lead to incorrect inversion alignment. Also improved the sensitivity to small inversions by using double Z-drop cutoff (#112).

• Fixed an issue that may cause the end of a query sequence unmapped (#104).

• Added a mappy API to retrieve sequences from the index (#126) and to reverse complement DNA sequences. Fixed a bug where the best_n parameter did not work (#117).

• Avoided segmentation fault given incorrect FASTQ input (#111).

• Combined all auxiliary javascripts to paftools.js. Fixed several bugs in these scripts at the same time.

(2.9: 24 February 2018, r720)

Release 2.8-r672 (1 February 2018)

Notable changes in this release include:

• Speed up short-read alignment by ~10%. The overall mapping accuracy stays the same, but the output alignments are not always identical to v2.7 due to unstable sorting employed during chaining. Long-read alignment is not affected by this change as the speedup is short-read specific.

• Mappy now supports paired-end short-read alignment (#87). Please see python/README.rst for details.

• Added option --for-only and --rev-only to perform alignment against the forward or the reverse strand of the reference genome only (#91).

• Alleviated the issue with undesired diagonal alignment in the self mapping mode (#10). Even if the output is not ideal, it should not interfere with other alignments. Fully resolving the issue is intricate and may require additional heuristic thresholds.

• Enhanced error checking against incorrect input (#92 and #96).

For long query sequences, minimap2 should output identical alignments to v2.7.

(2.8: 1 February 2018, r672)

Release 2.7-r654 (9 January 2018)

This release fixed a bug in the splice mode and added a few minor features:

• Fixed a bug that occasionally takes an intron as a long deletion in the splice mode. This was caused by wrong backtracking at the last CIGAR operator. The current fix eliminates the error, but it is not optimal in that it often produces a wrong junction when the last operator is an intron. A future version of minimap2 may improve upon this.

• Support high-end ARM CPUs that implement the NEON instruction set (#81). This enables minimap2 to work on Raspberry Pi 3 and Odroid XU4.

• Added a C API to construct a minimizer index from a set of C strings (#80).

• Check scoring specified on the command line (#79). Due to the 8-bit limit, excessively large score penalties fail minimap2.

For genomic sequences, minimap2 should give identical alignments to v2.6.

(2.7: 9 January 2018, r654)

Release 2.6-r623 (12 December 2017)

This release adds several features and fixes two minor bugs:

• Optionally build an index without sequences. This helps to reduce the peak memory for read overlapping and is automatically applied when base-level alignment is not requested.

• Approximately estimate per-base sequence divergence (i.e. 1-identity) without performing base-level alignment, using a MashMap-like method. The estimate is written to a new dv:f tag.

• Reduced the number of tiny terminal exons in RNA-seq alignment. The current setting is conservative. Increase --end-seed-pen to drop more such exons.

• Reduced the peak memory when aligning long query sequences.

• Fixed a bug that is caused by HPC minimizers longer than 256bp. This should have no effect in practice, but it is recommended to rebuild HPC indices if possible.

• Fixed a bug when identifying identical hits (#71). This should only affect artifactual reference consisting of near identical sequences.

For genomic sequences, minimap2 should give nearly identical alignments to v2.5, except the new dv:f tag.

(2.6: 12 December 2017, r623)

Release 2.5-r572 (11 November 2017)

This release fixes several bugs and brings a couple of minor improvements:

• Fixed a severe bug that leads to incorrect mapping coordinates in rare corner cases.

• Fixed underestimated mapping quality for chimeric alignments when the whole query sequence contain many repetitive minimizers, and for chimeric alignments caused by Z-drop.

• Fixed two bugs in Python binding: incorrect strand field (#57) and incorrect sequence names for Python3 (#55).

• Improved mapping accuracy for highly overlapping paired ends.

• Added option -Y to use soft clipping for supplementary alignments (#56).

(2.5: 11 November 2017, r572)

Release 2.4-r555 (6 November 2017)

As is planned, this release focuses on fine tuning the base algorithm. Notable changes include

• Changed the mapping quality scale to match the scale of BWA-MEM. This makes minimap2 and BWA-MEM achieve similar sensitivity-specificity balance on real short-read data.

• Improved the accuracy of splice alignment by modeling one additional base close to the GT-AG signal. This model is used by default with -x splice. For SIRV control data, however, it is recommended to add --splice-flank=no to disable this feature as the SIRV splice signals are slightly different.

• Tuned the parameters for Nanopore Direct RNA reads. The recommended command line is -axsplice -k14 -uf (#46).

• Fixed a segmentation fault when aligning PacBio reads (#47 and #48). This bug is very rare but it affects all versions of minimap2. It is also recommended to re-index reference genomes created with map-pb. For human, two minimizers in an old index are wrong.

• Changed option -L in sync with the final decision of hts-specs: a fake CIGAR takes the form of <readLen>S<refLen>N. Note that -L only enables future tools to recognize long CIGARs. It is not possible for older tools to work with such alignments in BAM (#43 and #51).

• Fixed a tiny issue whereby minimap2 may waste 8 bytes per candidate alignment.

The minimap2 technical note hosted at arXiv has also been updated to reflect recent changes.

(2.4: 6 November 2017, r555)

Release 2.3-r531 (22 October 2017)

This release come with many improvements and bug fixes:

• The sr preset now supports paired-end short-read alignment. Minimap2 is 3-4 times as fast as BWA-MEM, but is slightly less accurate on simulated reads.

• Meticulous improvements to assembly-to-assembly alignment (special thanks to Alexey Gurevich from the QUAST team): a) apply a small penalty to matches between ambiguous bases; b) reduce missing alignments due to spurious overlaps; c) introduce the short form of the cs tag, an improvement to the SAM MD tag.

• Make sure gaps are always left-aligned.

• Recognize U bases from Oxford Nanopore Direct RNA-seq (#33).

• Fixed slightly wrong chaining score. Fixed slightly inaccurate coordinates for split alignment.

• Fixed multiple reported bugs: 1) wrong reference name for inversion alignment (#30); 2) redundant SQ lines when multiple query files are specified (#39); 3) non-functioning option -K (#36).

This release has implemented all the major features I planned five months ago, with the addition of spliced long-read alignment. The next couple of releases will focus on fine tuning of the base algorithms.

(2.3: 22 October 2017, r531)

Release 2.2-r409 (17 September 2017)

This is a feature release. It improves single-end short-read alignment and comes with Python bindings. Detailed changes include:

• Added the sr preset for single-end short-read alignment. In this mode, minimap2 runs faster than BWA-MEM, but is slightly less accurate on simulated data sets. Paired-end alignment is not supported as of now.

• Improved mapping quality estimate with more accurate identification of repetitive hits. This mainly helps short-read alignment.

• Implemented mappy, a Python binding for minimap2, which is available from PyPI and can be installed with pip install --user mappy. Python users can perform read alignment without the minimap2 executable.

• Restructured the indexing APIs and documented key minimap2 APIs in the header file minimap.h. Updated example.c with the new APIs. Old APIs still work but may become deprecated in future.

This release may output alignments different from the previous version, though the overall alignment statistics, such as the number of aligned bases and long gaps, remain close.

(2.2: 17 September 2017, r409)

Release 2.1.1-r341 (6 September 2017)

This is a maintenance release that is expected to output identical alignment to v2.1. Detailed changes include:

• Support CPU dispatch. By default, minimap2 is compiled with both SSE2 and SSE4 based implementation of alignment and automatically chooses the right one at runtime. This avoids unexpected errors on older CPUs (#21).

• Improved Windows support as is requested by Oxford Nanopore (#19). Minimap2 now avoids variable-length stacked arrays, eliminates alloca(), ships with getopt_long() and provides timing functions implemented with Windows APIs.

• Fixed a potential segmentation fault when specifying -k/-w/-H with multi-part index (#23).

• Fixed two memory leaks in example.c

(2.1.1: 6 September 2017, r341)

Release 2.1-r311 (25 August 2017)

This release adds spliced alignment for long noisy RNA-seq reads. On a SMRT Iso-Seq and a Oxford Nanopore data sets, minimap2 appears to outperform traditional mRNA aligners. For DNA alignment, this release gives almost identical output to v2.0. Other changes include:

• Added option -R to set the read group header line in SAM.

• Optionally output the cs:Z tag in PAF to encode both the query and the reference sequences in the alignment.

• Fixed an issue where DP alignment uses excessive memory.

The minimap2 technical report has been updated with more details and the evaluation of spliced alignment:

• Li, H. (2017). Minimap2: fast pairwise alignment for long nucleotide sequences. arXiv:1708.01492v2.

(2.1: 25 August 2017, r311)

Release 2.0-r275 (8 August 2017)

This release is identical to version 2.0rc1, except the version number. It is described and evaluated in the following technical report:

• Li, H. (2017). Minimap2: fast pairwise alignment for long DNA sequences. arXiv:1708.01492v1.

(2.0: 8 August 2017, r275)

Release 2.0rc1-r232 (30 July 2017)

This release improves the accuracy of long-read alignment and added several minor features.

• Improved mapping quality estimate for short alignments containing few seed hits.

• Fixed a minor bug that affects the chaining accuracy towards the ends of a chain. Changed the gap cost for chaining to reduce false seeding.

• Skip potentially wrong seeding and apply dynamic programming more frequently. This slightly increases run time, but greatly reduces false long gaps.

• Perform local alignment at Z-drop break point to recover potential inversion alignment. Output the SA tag in the SAM format. Added scripts to evaluate mapping accuracy for reads simulated with pbsim.

This release completes features intended for v2.0. No major features will be added to the master branch before the final v2.0.

(2.0rc1: 30 July 2017, r232)

Release r191 (19 July 2017)

This is the first public release of minimap2, an aligner for long reads and assemblies. This release has a few issues and is generally not recommended for production uses.

(19 July 2017, r191)