New 1kG, dbNSFP, and ESP6500 Annotation Tracks and Associated Filters

SVS 7.6.7 features new tools for filtering sequencing data based on functional predictions and allele frequencies. To complement these new features, new annotations tracks have been uploaded to our data server and are now available for our customers! Below you will find descriptions of the new tools and the related annotations track(s).

“Easy-to-Use” SNP & Variation Suite Assists John Curtin, PhD in Uncovering Genetic Associations for Asthma and Allergies

Dr. John Curtin is a Lecturer in Functional Genomics at the University of Manchester where he works with a large team studying the development of asthma in a birth cohort. This group has received data on study subjects periodically for over a decade including before birth. Given how much data there is, data management is a big deal to Dr…. Read more »

Send us your SVS stories for a chance to win a $100 Amazon giftcard!

Last week, we introduced Dr. X to the world, an everyday scientist struggling with everyday bioinformatics challenges who was empowered by Golden Helix to do analysis himself. (Click here if you missed it.) Do you have a story of how Golden Helix has empowered you to conduct your research more effectively? We’d like to hear them! Simply submit your story… Read more »

What is Bioinformatic Filtering?

Recently I gave a presentation on bioinformatic filtering: the process of using quality scores, annotation databases, and functional prediction scores to intelligently and quickly reduce your variant search space. View the recording here» In this webcast, I mention that filtering is something we have been doing for a long time, and that there are some great examples that use exome… Read more »

New Analysis and Spreadsheet Manipulation Tools in SVS!

The script development team at Golden Helix has been hard at work these past few months and this means several new and exciting tools for our SVS customers!  The scripts featured in this blog post vary in function, from expanding the analytical options currently offered in SVS to transforming and editing spreadsheets.  As always, we invite you to visit our… Read more »