Ultra-sensitive variant calling and transcript quantification using Unique Molecular Identifiers

Background Next Generation Sequencing (NGS) technologies have remarkably revolutionized the medical and genomics research. The incremental cost reductions and size of the throughput at molecular resolution helped penetration and acceptance of the NGS methodologies into worldwide labs and clinics. The third generation wave of NGS technologies are knocking the doors to provide impetus to the … Continue reading “Ultra-sensitive variant calling and transcript quantification using Unique Molecular Identifiers”

Decoding Breast Cancer using Strand NGS DNA Variant analysis

One of the most dreaded diseases mankind has faced in recent times is cancer. Because of high morbidity and mortality rates that cancer brings it is a fearsome disease. When we hear about cancer no one believes that it can happen to them or to anyone else close. But the reality is far from this. … Continue reading “Decoding Breast Cancer using Strand NGS DNA Variant analysis”

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”