Tute Genomics Newsletter Spring 2014

Welcome to Tute Genomics

I am excited to personally welcome you and share our vision of accelerating gene and biomarker discovery.

What started as two researchers looking for a means to expedite the identification of disease-causing variants has now become a full-fledged mission to aid all in gene discovery with a web-based, user-friendly genetic analysis tool. With our combined expertise in genomics and bioinformatics, and the experience of developing tools like PennCNV and ANNOVAR, Tute CEO Reid Robison and I will present more exciting products from Tute Genomics in the coming days.

The Genome Reader is intended to share with you updates to Tute’s genome interpretation software and new product offerings, as well as some of the latest trends in genomics. I trust that you’ll enjoy reading this first edition, and we look forward to hearing from you.

President Kai Wang, PhD

What’s new at Tute

Tute Genomics has added new features to our powerful web application:

Framework: We have upgraded our backend and code framework allowing our system to be more robust, scalable, and reliable. New features and updates will be deployed more rapidly as a result.

Family-Based Analysis: Tute is capable of conducting multiple sample studies to prioritize the identification of disease genes in a family or population.

Case/Control: Users can now complete case control studies by uploading and selecting their complete data sets for analysis to identify disease causing variants.

Clinical Report: Our clinical reporting feature is now live in a Beta version! Tute now allows users to export their data in a clinical report which is easily generated with just one click for every genome and gene panel uploaded to the Tute system.

Filtering: You can now specify and apply advanced filters in meaningful combinations within one interface, making stepwise reduction and prioritization of variants quicker and even more simple. We have also made it possible to save and re-apply any combination of filters previously added by the user.

jBrowse: The powerful and widely used jBrowse visualization tool has been integrated to allow for detailed variant analysis.

Bulk uploads: Take advantage of the new bulk uploading feature which enables you to upload and process multiple variant sample files simultaneously. Specifying sample set information can easily be applied across all items. You can even directly upload compressed files in the following formats: .zip, .tar, .tar.bz2, .tar.gz, .gz, and .bz2.

Interface: Tute now better utilizes screen real-estate by displaying data in a relative width. No more wasted display space when you are using a high resolution.

We want to understand how you and your organization use the Tute platform, and how we could improve upon both specific visualizations as well as potentially process flow and layout of the site. Please share your feedback at [email protected]

The $1000 Genome

Illumina has recently announced the availability of the HiSeq X Ten which has significantly lowered the cost of sequencing. The problem now is a bottleneck of data that needs to be analyzed. Tute Genomics has created a comprehensive and user-friendly tool for the rapid annotation of whole exomes and genomes to meet this demand. Tute is the go-to tool for expediting the interpretation of genomic data sets, streamlining the process of identifying genetic variants to aid diagnosis of human diseases.

What’s your Tute Score

Tute Genomics has developed a novel, patent-pending approach which is able to prioritize variant findings based on the use of machine learning. Machine learning is a means by which a system immediately incorporates incoming data into it’s knowledge base in order for the system to learn from that data and tailor its output. Using this proprietary technology Tute analyzes sequencing data and inherently prioritizes harmful genetic variants by what is known as a Tute Score.

Visit us at:

ASCO - May 30-June 3
Booth #24086

BIO - June 23-26
Booth #4729

ASHG - October 18-22
Booth #1330