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<p align="center"><a href="https://galantelab.github.io/sandy/"><img src="share/imgs/sandy.jpeg" alt="sandy logo"></a></p>
<h2 align="center">A straightforward and complete next-generation sequencing read simulator</h2>

<p align="center">
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  <a href="https://badge.fury.io/pl/App-Sandy"><img alt="" src="https://badge.fury.io/pl/App-Sandy.svg" align="center"></a>
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</p>

**Sandy** is a bioinformatics tool that provides a simple engine to simulate next-generation
sequencing (NGS) reads for genomic and transcriptomic pipelines. Simulated data works as
experimental control \- a key step to optimize NGS analysis - in comparison to hypothetical
models. **Sandy** is a straightforward, easy-to-use, fast and highly customizable tool that
generates reads requiring only a fasta file as input. **Sandy** can simulate **single-end**
and **paired-end** reads from both DNA and RNA sequencing as if produced from the most used
second and third-generation platforms. The tool also tracks a built-in database with predefined
models extracted from real data for sequencer **quality-profiles** (i.e.
[Illumina](https://www.illumina.com/) *hiseq*, *miseq*, *nextseq*), **expression-matrices**
generated from [GTExV8](https://www.gtexportal.org/home/) data for 54 human tissues, and
**genomic-variations** such as SNVs and Indels from [1KGP](https://www.internationalgenome.org/)
and gene fusions from [COSMIC](https://cancer.sanger.ac.uk/cosmic).

For full documentation, please visit <https://galantelab.github.io/sandy/>.

## Features

* Simulate DNA and RNA sequencing

    Simulate **single-end** (long and short fragments) and **paired-end** sequencing reads for
    **genome** and **transcriptome** analysis. The simulation can be customized with raffle seed,
    sequencing coverage, number of reads, fragment mean, output formats (`fastq`, `sam` and their
    compressed versions `fastq.gz` and `bam`), sequence identifier (header of entries in `fastq`)
    and much more.

* Sequencer **quality-profile**

    **Sandy** generates `fastq` quality entries that mimic the [Illumina](https://www.illumina.com/),
    [PacBio](https://www.pacb.com/) and [Nanopore](https://nanoporetech.com/) sequencers, as well as
    generating the *phred-score* using a statistical model based on the *poisson* distribution.

* RNA-Seq **expression-matrix**

    It is possible to simulate a RNA-Seq which reflects the abundance of gene expression for transcripts
    and genes of a given tissue. For this purpose, **expression-matrices** were created from the gene
    expression data of 54 tissues of the [GTExV8](https://www.gtexportal.org/home/) project.

* Whole-genome sequencing with **genomic-variiation**

    The user can tune the reference genome (eg [GRCh38.p13.genome.fa.gz](https://www.gencodegenes.org/human/)),
    adding homozygous or heterozygous **genomic-variations** such as SNVs, Indels, gene fusions and other
    types of structural variations (eg CNVs, retroCNVs). **Sandy** has in its database **genomic-variations**
    obtained from the [1KGP](https://www.internationalgenome.org/) and from
    [COSMIC](https://cancer.sanger.ac.uk/cosmic).

* Custom user models

    Users can include their models for **quality-profile**, **expression-matrix** and **genomic-variation**
    in order to adapt the simulation to their needs.

* Custom sequence identifier

    The sequence identifier, as the name implies, is a string that identifies a biological sequence (usually
    nucleotides) within a sequencing data. For example, the `fasta` format includes the sequence identifier
    always after the `>` character at the beginning of the line; the `fastq` format always includes it after
    the `@` character at the beginning of the line; the `sam` format uses the first column (called the
    *query template name*).

    | Sequence identifier | File format |
    | :-- | :-: |
    | \>**MYID and Optional information**<br />ATCGATCG | `fasta` |
    | @**MYID and Optional information**<br />ATCGATCG<br />+<br />ABCDEFGH | `fastq` |
    | **MYID** 99 chr1 123456 20 8M chr1 123478 30 ATCGATCG ABCDEFGH | `sam` |

    Sequence identifiers may be customized in output using a format string passed by the user. This format
    is a combination of literal and escaped characters, in a similar fashion to that used in C programming
    language’s `printf` function.

    For example, simulating a paired-end sequencing you can add the read length, read position and mate
    position into all sequence identifiers with the following format:

        %i.%U read=%c:%t-%n mate=%c:%T-%N length=%r

    In this case, results in `fastq` format would be:

        ==> Into R1
        @SR.1 read=chr6:979-880 mate=chr6:736-835 length=100
        ...
        ==> Into R2
        @SR.1 read=chr6:736-835 mate=chr6:979-880 length=100

## Installation