An ultra-fast all-in-one FASTQ preprocessor (QC/adapters/trimming/filtering/splitting...)
repack Illumina format FASTQ to a smaller binary file (.rfq), which can be further compressed by xz (.rfq.xz)
Detect and visualize target gene fusions by scanning FASTQ files directly
Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data.
Detect and visualize target mutations by scanning FastQ files directly.
Pattern Recognition for Cell-free DNA.
OpenGene, core libraries for NGS data analysis and bioinformatics in julia.
Next Generation Sequencing Simulation with SNP, Variation and Sequencing Error Integrated.
Query Mutated Reads from a Bam.
Classify somatic/germline mutations by deep neural networks.
Detect gene fusion directly from raw fastq files .
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.