Unique Molecular Identifiers (UMIs) are short random nucleotide sequences that are increasingly being used in high-throughput sequencing experiments. In this webinar, we will highlight the UMI-friendly features of Strand NGS v3.1 including support for handling well known and customised UMI libraries, QC metrics, consensus alignment, UMI-based family size filters for read list, genome browser enabled with UMI-specific features and filters, UMI-aware variant calling parameters, and exporting UMI-tagged aligned samples. These all features together empower users to harness the potential of UMI-tagged NGS data for deeper insights. A case study demonstrating application of these UMI-based features in Strand NGS for low frequency variant calling in cfDNA sample will be presented.
UMI-tagged NGS libraries allow, ultra-sensitive detection of low frequency variants from liquid biopsy samples using DNA-Seq and accurate quantification of transcript-level expression using RNA-Seq. The recent release of Strand NGS v3.1, is equipped with the necessary features to efficiently analyse UMI-tagged NGS data helping researchers and labs involved in rare variant calling like in cfDNA based cancer diagnostics, and accurate transcript quantification with RNA-Seq.
Speaker: Dr. Pandurang Kolekar, Bioinformatics Engineer, Strand Life Sciences