Technology agnostic long read analysis pipeline for transcriptomes

samblaster: a tool to mark duplicates and extract discordant and split reads from sam files.

R data package for annotating/converting Gene IDs

Characterization of Germline variants

R Package for Non Invasive Prenatal Testing (NIPT) analysis

MSigDB gene sets for multiple organisms in a tidy data format

ASCAT copy number R package

CrossMap is a python program to lift over genome coordinates from one genome version to another.

Sample Level Analysis of Pathway Alteration Enrichments

MultiK is a data-driven tool that objectively assesses the optimal number(s) of clusters based on the concept of consensus clustering via a multi-resolution perspective.

A software for calculating telomere length

Population-scale genotyping using pangenome graphs

Structural Variant Caller

An ongoing repository of data on coronavirus cases and deaths in the U.S.

Bayesian genotyper for structural variants

LURE (Learning UnRealized or Events Using Supervised Machine Learning)

Bioinformatics data-mining

Automation of pipelines that depend on preexisting assembly, polishing, and alignment tools. Performance evaluation and visualization of assembly and polishing

Segmentum a fast tool for copy number analysis of cancer genome

The HTML Presentation Framework

Fast HLA type inference from whole-genome data

Runs a combination of tools to generate structural variant calls on whole-genome sequencing data