Elegant exact string match using BWT – FM Index

  This post is the first of a series where we describe some interesting algorithms used in our product Avadis NGS. The first post in this series is about string matching using FM index, a technique that forms the core of our aligner COBWeb. We have intentionally kept the usage of bioinformatics jargon minimum to … Continue reading “Elegant exact string match using BWT – FM Index”

Webinar: Find Significant SNPs in your Samples

In this month’s webinar, we will show you how to use the Find Significant SNPs analysis workflow in Avadis NGS 1.3. SNP verification and prioritization is one of the most time consuming tasks in variant analysis. The workflows and algorithms built-into Avadis NGS 1.3 make end-to-end SNP analysis easy, intuitive, and accurate. These workflows support … Continue reading “Webinar: Find Significant SNPs in your Samples”

Mutations Causing CHIME Disease

Here is publication from Sanford-Burnham Medical Research Institute that uses Avadis NGS: http://www.sciencedirect.com/science/article/pii/S000292971200095X The goal in this paper is to find the underlying genomic cause of CHIME syndrome, a disease so rare that there are only 8 reported cases in the world. CHIME is an abbreviation derived from the main symptoms: Colobomas (hole in the … Continue reading “Mutations Causing CHIME Disease”