Software Packages

Department of Quantitative Health Sciences
Mayo Clinic Research
Formerly known as the Department of Health Sciences Research

Related links: Division Overview R Shiny Applications


eSNV-Detect v1.0: Reliable Identification of Variants Using RNA-seq Data

The eSNV-Detect is a method to detect expressed single nucleotide variants (eSNVs) with high specificity and sensitivity from the high throughput transcriptome sequencing data. Alignments from multiple aligers are used to cover the aligner bias and multiple genomic features are used to improve the specificity. For the expressed SNVs detected, it can also identify the amino acid change and classify the protein domains.

The tool can be configured to run on a single Linux machine.

Source (.tar.gz, includes reference files, 39MB)

User Manual (.pdf)

Quick Start Virtual Machine (2.3GB, requires free Virtual Box software and a computer with greater than 4GB of memory)

Authors: Tang, Xiaojia ; Baheti, Saurabh ; Kalari, Krishna R.

Page last modified: January 7, 2018