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wfmash

A DNA sequence read mapper based on mash distances and the wavefront alignment algorithm.

wfmash is a fork of MashMap that implements base-level alignment using WFA, via the wflign tiled wavefront global alignment algorithm. It completes MashMap with a high-performance alignment module capable of computing base-level alignments for very large sequences.

process

Each query sequence is broken into non-overlapping pieces defined by -s[N], --segment-length=[N]. These segments are then mapped using MashMap's sliding minhash mapping algorithm and subsequent filtering steps. To reduce memory, a temporary file is used to store initial mappings. Each mapping location is then used as a target for alignment using WFA.

The resulting alignments always contain extended CIGARs in the cg:Z:* tag. Approximate mapping (equivalent to MashMap2) can be obtained with -m, --approx-map.

Sketching, mapping, and alignment are all run in parallel using a configurable number of threads. The number of threads must be set manually, using -t, and defaults to 1.

usage

wfmash has been developed to accelerate the alignment step in variation graph induction (the first step in the seqwish / smoothxg pipeline). Suitable default settings are provided for this purpose.

Seven parameters shape the length, number, identity, and alignment divergence of the resulting mappings.

mapping settings

The first three affect the structure of the mashmap2 mappings:

  • -s[N], --segment-length=[N] is the length of the mapped and aligned segment (when -N is not set)
  • -N, --no-split avoids splitting queries into segments, and instead maps them in their full length
  • -p[%], --map-pct-id=[%] is the percentage identity minimum in the mapping step
  • -n[N], --n-secondary=[N] is the maximum number of mappings (and alignments) to report for each segment above segment-length (the number of mappings for sequences shorter than the segment length is defined by -S[N], --n-short-secondary=[N], and defaults to 1)

all-to-all mapping

Together, these settings allow us to precisely define an alignment space to consider. During all-to-all mapping, -X can additionally help us by removing self mappings from the reported set, and -Y extends this capability to prevent mapping between sequences with the same name prefix.

examples

Map a set of query sequences against a reference genome:

wfmash reference.fa query.fa >aln.paf

Setting a longer segment length to reduce spurious alignment:

wfmash -s 50000 reference.fa query.fa >aln.paf

Self-mapping of sequences:

wfmash -X query.fa query.fa >aln.paf

sequence indexing

wfmash provides a progress log that estimates time to completion.

This depends on determining the total query sequence length. To prevent lags when starting a mapping process, users should apply samtools index to index query and target FASTA sequences. The .fai indexes are then used to quickly compute the sum of query lengths.

installation

The build is orchestrated with cmake:

cmake -H. -Bbuild && cmake --build build -- -j 16

The wfmash binary will be in build/bin. To clean up, just remove the build directory.

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base-accurate DNA sequence alignments using WFA and mashmap3

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