fulcrumgenomics / fgbio

fulcrumgenomics

Tools for working with genomic and high throughput sequencing data.

141 Stars 24 Forks Last release: about 2 months ago (1.3.0) MIT License 557 Commits 19 Releases

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Readme

fgbio

Name: fgbio
Brand: fgbio
SKU: //fulcrumgenomics/fgbio
Rating: 2.1025 (141 reviews)

A set of tools to analyze genomic data with a focus on Next Generation Sequencing. This readme document is mostly for developers/contributors and those attempting to build the project from source. Detailed user documentation is available on the project website including tool usage and documentation of metrics produced. Detailed developer documentation can be found here.

Goals

There are many toolkits available for analyzing genomic data; fgbio does not aim to be all things to all people but is specifically focused on providing:

Robust, well-tested tools.
An easy to use command-line.
Clear and thorough documentation for each tool.
Open source development for the benefit of the community and our clients.

Overview

Fgbio is a set of command line tools to perform bioinformatic/genomic data analysis. The collection of tools within

fgbio

are used by our customers and others both for ad-hoc data analysis and within production pipelines. These tools typically operate on read-level data (ex. FASTQ, SAM, or BAM) or variant-level data (ex. VCF or BCF). They range from simple tools to filter reads in a BAM file, to tools to compute consensus reads from reads with the same molecular index/tag. See the list of tools for more detail on the tools

List of tools

For a full list of available tools please see the tools section of the project website.

Below we highlight a few tools that you may find useful.

Tools for working with Unique Molecular Indexes (UMIs, aka Molecular IDs or MIDs).
- Annotating/Extract Umis from read-level data:
```
AnnotateBamWithUmis
```
  and
```
ExtractUmisFromBam
```
  .
- Tools to manipulate read-level data containing Umis:
```
CorrectUmis
```
  ,
```
GroupReadsByUmi
```
  ,
```
CallMolecularConsensusReads
```
  and
```
CallDuplexConsensusReads
```
Tools to manipulate read-level data:
- FastqManipulation:
```
DemuxFastqs
```
  and
```
FastqToBam
```
- Filter read-level data:
```
FilterBam
```
  .
- Clipping of reads:
```
ClipBam
```
  .
- Randomize the order of read-level data:
```
RandomizeBam
```
  .
- Update read-level metadata:
```
SetMateInformation
```
  and
```
UpdateReadGroups
```
  .
Quality assessment tools:
- Detailed substitution error rate evaluation:
```
ErrorRateByReadPosition
```
- Sample pooling QC:
```
EstimatePoolingFractions
```
- Splice-aware insert size QC for RNA-seq libraries:
```
EstimateRnaSeqInsertSize
```
- Assessment of duplex sequencing experiments:
```
CollectDuplexSeqMetrics
```
Miscellaneous tools:
- Pick molecular indices (ex. sample barcodes, or molecular indexes):
```
PickIlluminaIndices
```
  and
```
PickLongIndices
```
  .
- Convert the output of HAPCUT (a tool for phasing variants):
```
HapCutToVcf
```
  .
- Find technical or synthetic sequences in read-level data:
```
FindTechnicalReads
```
  .
- Assess phased variant calls:
```
AssessPhasing
```
  .

Building

Cloning the Repository

Git LFS is used to store large files used in testing fgbio. In order to compile and run tests it is necessary to install git lfs. To retrieve the large files either:

Clone the repository after installing git lfs, or
In a previously cloned repository run
```
git lfs pull
```
once

After initial setup regular git commands (e.g.

pull

fetch

push

) will also operate on large files and no special handling is needed.

To clone the repository:

git clone https://github.com/fulcrumgenomics/fgbio.git

Running the build

fgbio is built using sbt.

Use

sbt assembly

to build an executable jar in

target/scala-2.13/

Tests may be run with

sbt test

Java SE 8 is required.

Command line

java -jar target/scala-2.13/fgbio-.jar

to see the commands supported. Use

java -jar target/scala-2.13/fgbio-.jar

to see the help message for a particular command.

Include fgbio in your project

You can include

fgbio

in your project using:

"com.fulcrumgenomics" %% "fgbio" % "1.0.0"

for the latest released version or (buyer beware):

"com.fulcrumgenomics" %% "fgbio" % "0.9.0--SNAPSHOT"

for the latest development snapshot.

Contributing

Contributions are welcome and encouraged. We will do our best to provide an initial response to any pull request or issue within one-week. For urgent matters, please contact us directly.