cmuts align

Purpose

Aligning raw sequencing data against the reference library.

Requires

  • One or more FASTQ files containing the sequenced reads

  • The FASTA library

As well as both minimap2 and samtools on the path, and fastp for paired-end input.

Usage

One invocation handles one sample. Pass a single FASTQ file for single-end reads,

cmuts align -f references.fasta -o treated.bam -x map-ont treated.fastq

or two for paired-end reads.

cmuts align -f references.fasta -o treated.bam -x sr treated_R1.fastq.gz treated_R2.fastq.gz

Merging

Paired-end input is merged with fastp before alignment. A pair whose mates do not overlap cannot be merged and is discarded. fastp reports how many pairs it merged on standard error.

Presets

-x is required, and names the platform the reads came from, which is passed on to minimap2 for alignment purposes. The following lists common choices; consult the minimap2 documentation for all choices.

Preset

Platform

sr

Illumina, MGI, Complete Genomics

map-ont

Oxford Nanopore

map-hifi

PacBio HiFi

map-pb

PacBio CLR

Paired-end inputs are refused unless the preset is sr.

Options

Arguments

Argument

Description

READS

reads to align

MATE

the second file of a pair, merged with the first

Input and output

Option

Description

-f, --fasta FASTA

reference sequences, or a minimap2 index (required)

-o, --output BAM

write sorted alignments to this file (required)

--overwrite

replace the output file if it already exists

Alignment

Option

Description

-x, --preset PRESET

how minimap2 aligns (sr|map-ont|map-hifi|map-pb) (required)

Performance

Option

Description

-t, --threads N

threads for merging, alignment and sorting (default 1)

Information

Option

Description

-h, --help

show this help and exit

-V, --version

show the version and exit