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MinVar: automatic detection of drug-resistance mutations in HIV-1

MinVar is a command-line tool to discover mutations conferring drug resistance in HIV-1 populations using deep sequencing data.


The simplest example

[user@host ~]$ minvar -f sample_file.fastq
... a few minutes later ...
[user@host ~]$ column -t -s ',' annotated_DRM.csv
gene      pos  mut  freq    category
...
RT        238  T    1.0     NNRTI
RT        250  N    0.9547  unannotated
RT        272  P    1.0     unannotated
RT        293  V    1.0     unannotated
RT        297  A    1.0     unannotated
RT        333  D    0.9384  unannotated
RT        333  E    0.0354  unannotated
RT        335  C    1.0     unannotated
protease  10   P    0.0223  Other
protease  10   Q    0.0185  Other
protease  10   S    0.0741  Other
protease  10   T    0.0468  Other
protease  10   V    0.5948  PIMinor
protease  11   L    1.0     PIMinor
protease  13   V    1.0     unannotated
protease  14   R    1.0     unannotated
protease  15   V    0.7143  unannotated
protease  20   T    1.0     PIMinor
protease  32   I    1.0     PIMajor
...

Important features

  • MinVar is an opinionated software: it just takes a fastq file as input and does not ask the standard user to set any parameter at run time. Nevertheless, the experienced user/developer can easily change some of its settings in the source code.
  • It has been tested on both Illumina MiSeq and Roche/454 sequencing reads.
  • It uses state-of-the-art third tools to filter, recalibrate, and align reads and to call variants.
  • Finally, single nucleotide variants are phased at codon level and amino acid mutations are called and annotated.
  • Drug-resistance mutations are annotated according to Stanford HIV Drug Resistance Database (HIVDB).
  • The annotated mutations are saved in a csv file (see example above) and also included in a report in markdown format that is finally converted to PDF.

Documentation

See the official documentation.

Citation

MinVar has been introduced and validated in
Huber, Metzner et al., (2017) MinVar: A rapid and versatile tool for HIV-1 drug resistance genotyping by deep sequencing Journal of virological methods 240:7-13, doi:10.1016/j.jviromet.2016.11.008