We blog about genomics. We also make a platform for open-source analysis of next generation data in the cloud. Hello.

3-hour Whole Genome Analysis with GATK4

In the pursuit of accelerating next generation sequencing data processing for clinical applications,  Seven Bridges has developed a configurable GATK4 workflow 3.0 times faster than previous iterations. Following up on our initial push of the GATK4 workflow in 2017, and our recent update with the Broad’s Best Practices, we’ve worked …

Written by Vladimir Kovacevic, Teodora Aleksic, Jack DiGiovanna, Stefan Risteski

Enabling portable, reproducible, and scalable biomedical data analysis using Rabix Composer and CWL v1.0

We are excited to announce the release of version 1.0 of Rabix Composer, our integrated development environment for creating bioinformatics tools and workflows, and of support for Common Workflow Language (CWL) v1.0 on the Seven Bridges Platform! For an introduction to Rabix Composer and CWL, we encourage you to read …

Written by Adrian Sharma & Liz Williams

Spatial Transcriptomics on the Seven Bridges Platform

As our understanding of biology deepens, many researchers are moving away from bulk gene expression analyses to single-cell analyses. However, current RNA-Seq methods that assay pooled RNA from tissue samples, or even from single cells, fail to conserve the spatial distribution of gene expression within the original tissue. In addition, …

Written by Michele Mattioni

Circulating Tumor DNA Analysis on the Seven Bridges Platform

Next Generation Sequencing (NGS) has brought significant improvements in all areas of biotechnology and healthcare — and cancer screening is no exception. The latest game-changer is liquid biopsy, a novel and challenging NGS application. By directly measuring and analyzing circulating tumor DNA (ctDNA) in blood, liquid biopsy is a promising, …

Written by Sanja Mijalkovic, Luka Topalovic, Ognjen Milicevic

The GA4GH Workflow Execution Challenge: evaluating reproducibility and portability across platforms

Large-scale, geographically distributed genomics analysis efforts, such as the PanCancer Analysis of Whole Genomes (PCAWG) project, highlight a trend in our community towards moving compute to where data resides. For PCAWG, this was out of necessity as the genomes for ~2,800 cancer donors were stored across 8 different locations around …

Written by Guest Author: Brian O’Connor

The Cancer Genomics Cloud: collaborative, reproducible, democratized (and now citable!)

Last week we published our paper The Cancer Genomics Cloud: Collaborative, Reproducible, and Democratized—A New Paradigm in Large-Scale Computational Research in Cancer Research as part of their special issue on computer resources. Congratulations to everyone who’s worked on the Cancer Genomics Cloud, and many many thanks to the team at …

Written by Nick

Develop, test and scale reproducible bioinformatics workflows with Rabix

Rabix: the toolkit for reproducible bioinformatics This summer, our development team announced the public launch of Rabix: the open source toolkit for creating and running reproducible computational workflows. Rabix was founded to overcome the challenges inherent in running reproducible bioinformatics analyses at scale. Here we show how the combination of software containers, workflow language and Rabix gives bioinformaticians the […]

Written by Nick

Big data for big results in childhood cancer

Last week Seven Bridges CEO Brandi Davis-Dusenbery joined an expert panel to discuss how data contributes to the fight against childhood cancer. Hosted by The Atlantic, the Children and Cancer forum sought to address the practical realities of pediatric cancer and identify ways to improve outcomes for these patients. You …

Written by Nick

A first look at GATK4 on the Seven Bridges Platform

One of the big take-away messages from the Bio-It World Conference this year was the Broad Institute’s announcement that they plan to fully open source their GATK4 software. By transitioning to a BSD 3-Clause licence, GATK4 becomes fully open for commercial use without a separate commercial licence, which should particularly …

Written by Nick

We are always engaged in research and development, working to build the future of genomics, science, and health. Let's work together. We'd love to hear about your projects and challenges, so drop us a line. get in touch