FAQ¶
Is get_MNV a variant caller?¶
No. get_MNV annotates and summarizes existing variant calls (from a VCF or iVar TSV) against a reference. It does not call variants or assemble reads; it reinterprets the alleles already present in your input, with codon awareness.
What inputs do I need?¶
A reference FASTA, a variant file (--vcf or --tsv), and a gene annotation
(--gff or --genes). A BAM (--bam) is optional and only needed for read
support and the read-based filters. See Input Formats.
When should I use --gff versus --genes?¶
Use --genes with a simple four-column TSV (name, start, end, strand)
for single-exon / prokaryotic genes. Use --gff with a GFF/GFF3 file when you
need spliced transcripts; add --gff-features CDS so codons are built from the
joined CDS segments (including codons that span exon junctions).
Which --translation-table should I use?¶
The default is 11 (bacterial), correct for organisms like M. tuberculosis.
For the standard nuclear code use 1; other supported tables are 2, 3, 4, 5, 6,
12 and 25. See the CLI Reference.
Why did two of my SNPs become one MNV?¶
When two or more SNVs fall in the same codon, the amino acid effect depends on
the combined codon, not the individual changes. get_MNV groups them and
reports a MNV (or SNP/MNV) row with the real codon and amino acid. See
Scope and Compatibility.
Do I need a BAM?¶
Only if you want read support. Without --bam you still get full codon/MNV and
indel annotation; with it you also get per-event read counts, frequencies and
strand metrics, and you can apply read-based filters.
Why are the frequencies different from my input VCF?¶
Read-based filters and the reported support are recalculated from --bam, not
taken from the original OFREQ/ODP. This reflects what the reads actually
show for each SNV, MNV haplotype and indel event.
Can I use a BCF file as input?¶
Not directly. Convert it to VCF first, for example with
bcftools view input.bcf -O v -o input.vcf. get_MNV can write BCF output via
--bcf. See Troubleshooting.
My VCF has multiallelic records: what happens?¶
By default get_MNV stops so you can decide how to handle them. Pass
--split-multiallelic to split each record into independent ALT alleles, or
pre-split with bcftools norm -m -.
Are indels supported?¶
Yes. get_MNV decomposes REF/ALT alleles into SNV, MNV, insertion, deletion,
delins and complex components, reports their protein effect when they overlap a
coding feature, and (with --bam) counts exact indel-event support. It does not
left-align or fully normalize indels for you; normalize cross-caller inputs
with bcftools norm -f ref.fa (or --normalize-alleles for simple trimming).
What about intergenic variants?¶
They are included by default and labelled intergenic. Use
--exclude-intergenic to drop variants outside annotated genes.
Where does the output go?¶
By default get_MNV writes <input_name>.MNV.tsv into the current working directory, not next to the input. Use
--convert for VCF, --both for both, and the related output options in the
CLI Reference.
The macOS app won't open ("unidentified developer")¶
The desktop app is not signed with an Apple Developer certificate. On first launch, right-click the app → Open → click Open in the dialog. See the Desktop GUI guide.