web-based analysis tool for rare disease genomics

Data intensive science for everyone.

Validated, scalable, community developed variant calling, RNA-seq and small RNA analysis

create a gemini-compatible database from a VCF

annotate a VCF with other VCFs/BEDs/tabixed files

prioritize effects of variant annotations from VEP, SnpEff, et al.

A deep learning-based tool to identify splice variants

Aggregate results from bioinformatics analyses across many samples into a single report.

WDL Analysis Research Pipelines

Scientific workflow engine designed for simplicity & scalability. Trivially transition between one off use cases to massive scale production environments

A set of command line tools (in Java) for manipulating high-throughput sequencing (HTS) data and formats such as SAM/BAM/CRAM and VCF.

Official code repository for GATK versions 4 and up

Language agnostic RESTful data access to Ensembl data over HTTP

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

The Ensembl Core Perl API and SQL schema

ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing