OpenGene: Open source tools for NGS data analysis
fastp
An ultra-fast all-in-one FASTQ preprocessor (QC/adapters/trimming/filtering/splitting...)
repaq
repack Illumina format FASTQ to a smaller binary file (.rfq), which can be further compressed by xz (.rfq.xz)
GeneFuse
Detect and visualize target gene fusions by scanning FASTQ files directly
AfterQC
Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data.
MutScan
Detect and visualize target mutations by scanning FastQ files directly.
CfdnaPattern
Pattern Recognition for Cell-free DNA.
OpenGene.jl
OpenGene, core libraries for NGS data analysis and bioinformatics in julia.
SeqMaker.jl
Next Generation Sequencing Simulation with SNP, Variation and Sequencing Error Integrated.
MrBam
Query Mutated Reads from a Bam.
DeepSomatic
Classify somatic/germline mutations by deep neural networks.
FusionDirect.jl
Detect gene fusion directly from raw fastq files .
Query MSK-IMPACT Data
An online tool to query MSK-IMPACT data, which was published on Nature Medicine very recently. Just search by gene and mutation, then the result will show the samples having this mutation, along with this sample's clinical information.