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Northwestern University
- Chicago
Stars
A gene fusion caller for long-read transcriptome sequencing data.
Complex structural variant detection from WGS data
Read-based phasing of genomic variants, also called haplotype assembly
A tool for somatic structural variant calling using long reads
Genome modeling and design across all domains of life
A curated list of awesome nanopore analysis tools.
Transcript discovery and quantification with long RNA reads (Nanopores and PacBio)
Variant calling tool for long-read sequencing data
Copy number caller for long read data including SNV utilization
DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
A bioinformatics tool for working with modified bases
fusion transcript detection using long reads, leveraging ctat-minimap2 and FusionInspector
Conda recipes for the bioconda channel.
A Snakemake-based structural variant analysis workflow leveraging OctopusV's capabilities.
Structural variant and indel caller for mapped sequencing data
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
A python tool to detect internal tandem duplication with robust variant allele frequency estimation
Installation and usage for various tools for cancer genomics
SortMeRNA: next-generation sequence filtering and alignment tool
A genomic language model that distinguishes true structural variants from artifacts in long-read whole genome amplification
Language models identify chimeric artificial reads in NanoPore direct-RNA sequencing data.