Standalone Tools Overview
Tool |
Details |
Annotates existing BAM files with UMIs (Unique Molecular Indices) from a separate FASTQ file |
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Apply BQSR report to a bam file and generate new bam file |
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Tool for the detection of gene fusions from RNA-Seq data |
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Convert a BAM to FASTQ |
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Collect WGS Metrics on a bam file |
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Sort BAM file |
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Call variants from mpileup output |
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Consequence prediction for genomic variants |
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Generate BCF/VCF pileup for one or multiple BAM files |
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Collect BQSR report on a BAM file |
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Generate variant scores using a Convolutional Neural Network |
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Run CNVkit with accelerated coverage calculation from read depths |
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Collect multiple classes of metrics on a bam file |
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Calls consensus sequences from reads with the same unique molecular tag |
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Annotate variants based on a dbsnp |
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Run GPU-DeepTrio for calling de novo variants |
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Run GPU-DeepVariant for calling germline variants |
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Perform sample demultiplexing on FASTQs |
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Calls consensus sequences from reads with the same double-stranded source molecule |
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A tool for estimating large repeats in the bam |
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Run bwa mem, co-ordinate sorting, marking duplicates and Base Quality Score Recalibration |
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Convert FASTQs to an unaligned BAM file |
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Filter a VCF by allele frequency or allele count |
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Convert a GVCF to VCF |
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Merge and joint-call input gVCF files, emitting multi-sample BCF |
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Groups reads together that appear to have come from the same original molecule |
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Run GPU-HaplotypeCaller for calling germline variants |
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Index a GVCF file |
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Quantify abundances of transcripts from bulk and single-cell RNA-Seq data |
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Call variants with high sensitivity, predicting variants below the average base-call quality |
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Call variants from BAM file |
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Analyze germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs |
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Call somatic variants with accelerated MuSE variant caller |
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Run GPU-Mutect2 for tumor-normal analysis |
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Generate the final vcf output of doing mutect pon |
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Build an index for pon file, which is the prerequisite to do mutect pon |
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Run RNA-seq data through the fq2bam pipeline |
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Generate text pileup for one or multiple BAM files |
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Adds and/or fixes mate information on paired-end reads |
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Call and genotype SVs for short reads |
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Annotate variants in a VCF file with VCF or GTF databases |
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Identify single nucleotide positions that are different between tumor and normal BAM files |
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Run the somaticsniper variant caller workflow |
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Split reads in a BAM file that contain Ns in their cigar string |
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Identify candidate fusion transcripts supported by Illumina reads |
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Analyze germline variation in small cohorts and somatic variation in tumor/normal sample pairs |
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Run the strelka variant caller workflow |
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Combine GVCF of 2 or 3 samples |
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This UMI pipeline is based on Fulcrum Genomics toolkit, processes sequencing reads with molecular barcodes (also known as Unique Molecular Indices, UMIs), which provide impressive error correction and increased accuracy using a sequencing consensus read level |
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Filter a VCF using a boolean expression |
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Annotate a VCF using dbsnp and annotation files |
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Generate QC plots on a VCF file |
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Generate a summaryfile using samtoolsmpileup that can be used for plotting/report generation |
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Create union and intersection VCFs based on a minimum number of variant callers supporting a variant |
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Build a recalibration model to score variant quality and apply a score cutoff to filter variants |