Configuring SNP detection pipelines for accurate analysis of clinical samples

Webinar of the Month Series: Configuring SNP detection pipelines in Avadis NGS for accurate analysis of clinical samples Presenter:  Dr Vamsi Veeramachaneni, Vice President, Strand Life Sciences Abstract: Running a SNP detection pipeline and identifying high quality variant calls quickly is challenging. This is especially true in the case of clinical labs where multiple panels … Continue reading “Configuring SNP detection pipelines for accurate analysis of clinical samples”

The Need for Realignment to dbSNP

We’ve been using Avadis NGS to analyze a number of clinical samples and ran into an interesting case for InDel detection that could lead to false interpretation unless handled properly. The case at hand involves a child who suffered from Pulmonary Hypertension, Pulmonary Infections, and a few other abnormalities, all at birth or in the … Continue reading “The Need for Realignment to dbSNP”