========================================================== amplimap documentation, version |version| ========================================================== An amplicon mapping and analysis pipeline ------------------------------------------ amplimap is a pipeline to process and analyse short-read sequencing data from **smMIP-panels** or **PCR-based amplicons**. It was designed to support both **germline variant calling** as well as **quantification of variant allele frequencies** using ultra-high-coverage pileups with and without **UMIs**. amplimap takes fastq or bam files generated from an Illumina sequencer (tested with MiSeq, HiSeq, and NextSeq), assigns each read pair to a probe/amplicon, trims and aligns the reads and then generates a set of basic statistics. After that, two different types of analyses can be performed: 1. Germline variant calling using Platypus/GATK and annotation with Annovar, to generate an annotated table of potentially pathogenic variants. 2. Per-basepair “pileup” of reads to generate nucleotide counts of each base at each target basepair and each sample, for analysis of allele frequencies. Built on top of Snakemake and Python 3, amplimap is entirely automated and can be run on a single machine as well as on a HPC cluster (eg. LSF, SGE). Contents -------------------- .. toctree:: :maxdepth: 2 installation quickstart usage configuration tutorials advanced extended_installation code references Citation and License -------------------- Licensed under the Apache License, version 2.0. Copyright 2018 Nils Koelling. When you use amplimap, please cite it in your work. For example: Koelling, Nils. "amplimap: amplicon mapping and analysis pipeline (version |version|)". https://github.com/koelling/amplimap/