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Northwestern University
- Chicago
Stars
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
Language models identify chimeric artificial reads in NanoPore direct-RNA sequencing data.
Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data
Tool for the Quality Control of Long-Read Defined Transcriptomes
A comprehensive mapping database, including detailed information, of the terminology and concepts in computational medicine and bioinformatics field.
Deep Learning Processing Library for Biological Data
Vim-fork focused on extensibility and usability